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 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:12885289G>T uc001auk.2 - 4 1018 c.822C>A c.(820-822)CTC>CTA p.L274L NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 274 LRR 3. 0 GGCACTGGGAGAGATGCTTCA 0.458 NA 7 175 0.00448238 0.00461855 1 0 KIF17 57576 broad.mit.edu 37 1 21031194 21031194 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:21031194G>A uc001bdr.3 - 5 987 c.869C>T c.(868-870)TCG>TTG p.S290L KIF17_uc001bds.3_Missense_Mutation_p.S290L NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 290 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CGTCAGCTTCGAGTCACGGTA 0.622 NA 16 44 0 0 0 0 COL16A1 1307 broad.mit.edu 37 1 32148956 32148956 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:32148956G>A uc001btk.1 - 35 2759 c.2394C>T c.(2392-2394)GCC>GCT p.A798A COL16A1_uc001btj.1_Silent_p.A627A|COL16A1_uc001btl.3_Silent_p.A798A NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 798 Triple-helical region 5 (COL5) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GCAAACCCGGGGCTCCAGGCT 0.617 NA 45 141 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109795883 109795883 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:109795883C>T uc001dxa.3 + 1 3243 c.3182C>T c.(3181-3183)ACT>ATT p.T1061I NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1061 Cadherin 9.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GATAGTCTGACTTACAGCTTT 0.547 NA 16 43 0 0 0 0 WDR77 79084 broad.mit.edu 37 1 111985333 111985333 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:111985333C>T uc001ebb.2 - 8 781 c.742G>A c.(742-744)GTC>ATC p.V248I WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Missense_Mutation_p.V184I NM_024102 NP_077007 Q9BQA1 MEP50_HUMAN WD repeat domain 77 248 WD 4. ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding 0 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGCTCAGGACACAGCTTGTA 0.443 NA 5 19 0 0 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075708 145075708 + Missense_Mutation SNP C C T rs148346797 byFrequency TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:145075708C>T uc001emh.2 - 1 372 c.155G>A c.(154-156)CGG>CAG p.R52Q NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.R52Q|PDE4DIP_uc001emk.2_Missense_Mutation_p.R52Q NM_022359 NP_071754 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCCGGGCGCCGTCTTTCCCG 0.721 NA T PDGFRB MPD 13 82 0 0 0 0 VHLL 391104 broad.mit.edu 37 1 156268971 156268971 + Silent SNP T T G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:156268971T>G uc001fok.2 - 1 458 c.10A>C c.(10-12)AGA>CGA p.R4R NM_001004319 NP_001004319 Q6RSH7 VHLL_HUMAN von Hippel-Lindau tumor suppressor-like 4 protein ubiquitination nucleus ovary(1) 1 Hepatocellular(266;0.158) TTCCCCGCTCTCCAGGGCATT 0.592 NA 22 79 0 0 0 0 KIRREL 55243 broad.mit.edu 37 1 158047906 158047906 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:158047906C>T uc001frn.3 + 3 732 c.328C>T c.(328-330)CGG>TGG p.R110W KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_Missense_Mutation_p.R49W NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 110 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CCTGCGCTCTCGGCGGGCCAA 0.607 NA 9 117 0 0 0 0 OR10X1 128367 broad.mit.edu 37 1 158549570 158549570 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:158549570C>T uc010pin.1 - 1 120 c.120G>A c.(118-120)CAG>CAA p.Q40Q NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 40 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AAAGAAATGTCTGTACATGTG 0.423 NA 6 78 0 0 0 0 FMO1 2326 broad.mit.edu 37 1 171250015 171250015 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:171250015C>G uc009wvz.2 + 6 854 c.718C>G c.(718-720)CAG>GAG p.Q240E FMO1_uc010pme.1_Missense_Mutation_p.Q177E|FMO1_uc001ghl.2_Missense_Mutation_p.Q240E|FMO1_uc001ghm.2_Missense_Mutation_p.Q240E|FMO1_uc001ghn.2_Missense_Mutation_p.Q240E NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 240 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GACACGCTTTCAGAACATGTT 0.493 NA 7 68 0 0 0 0 CEP350 9857 broad.mit.edu 37 1 180080243 180080243 + Missense_Mutation SNP A A G rs150197968 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:180080243A>G uc001gnt.2 + 38 9684 c.9301A>G c.(9301-9303)ATT>GTT p.I3101V CEP350_uc009wxl.2_Missense_Mutation_p.I3100V|CEP350_uc001gnv.2_Missense_Mutation_p.I1236V|CEP350_uc001gnw.1_Missense_Mutation_p.I858V|CEP350_uc001gnx.1_Missense_Mutation_p.I858V NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 3101 centrosome|nucleus|spindle ovary(4) 4 CAAAGATACTATTGATGTTCT 0.463 NA 15 29 0 0 0 0 PPFIA4 8497 broad.mit.edu 37 1 203013095 203013095 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:203013095C>T uc009xaj.2 + 8 814 c.814C>T c.(814-816)CAT>TAT p.H272Y PPFIA4_uc010pqf.1_5'Flank O75335 LIPA4_HUMAN SubName: Full=Liprin alpha4; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 GGTGTCCCGCCATGAACGGTC 0.622 NA 8 31 0 0 0 0 FCAMR 83953 broad.mit.edu 37 1 207135705 207135705 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:207135705G>A uc001hfa.3 - 5 1005 c.505C>T c.(505-507)CGT>TGT p.R169C FCAMR_uc001hfb.2_Missense_Mutation_p.R169C|FCAMR_uc009xca.1_Missense_Mutation_p.R169C|FCAMR_uc001hfc.2_Missense_Mutation_p.R144C NM_001122980 NP_001116452 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity isoform 2 124 Extracellular (Potential).|Ig-like V-type. integral to membrane|plasma membrane receptor activity ovary(1) 1 AGGGCCACACGGTCACGATAG 0.572 NA 28 41 0 0 0 0 GPR137B 7107 broad.mit.edu 37 1 236341831 236341831 + Silent SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:236341831A>T uc001hxq.2 + 3 673 c.582A>T c.(580-582)CGA>CGT p.R194R GPR137B_uc001hxr.1_5'UTR|GPR137B_uc009xge.2_RNA NM_003272 NP_003263 O60478 G137B_HUMAN G protein-coupled receptor 137B 194 Helical; (Potential). integral to plasma membrane|membrane fraction 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TCTCTGTGCGAGTGGCCATTA 0.473 NA 27 54 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237969504 237969504 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:237969504C>T uc001hyl.1 + 99 14339 c.14219C>T c.(14218-14220)GCC>GTC p.A4740V RYR2_uc010pyb.1_Missense_Mutation_p.A173V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4740 Helical; Name=M7; (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTTTTTTTGCCGCTCACCTT 0.403 NA 3 29 0 0 0 0 LYZL2 119180 broad.mit.edu 37 10 30915048 30915048 + Missense_Mutation SNP T T C rs143775752 byFrequency TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:30915048T>C uc001ivk.2 - 3 435 c.422A>G c.(421-423)CAC>CGC p.H141R NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 95 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) GCAGGCGACGTGGCAGTGGTT 0.557 NA 11 54 0 0 0 0 ZNF438 220929 broad.mit.edu 37 10 31133973 31133973 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:31133973C>G uc010qdz.1 - 8 2839 c.2404G>C c.(2404-2406)GAG>CAG p.E802Q ZNF438_uc001ivn.2_Missense_Mutation_p.E753Q|ZNF438_uc010qdy.1_Missense_Mutation_p.E792Q|ZNF438_uc001ivo.3_Missense_Mutation_p.E366Q|ZNF438_uc009xlg.2_Missense_Mutation_p.E802Q|ZNF438_uc001ivp.3_Missense_Mutation_p.E792Q|ZNF438_uc010qea.1_Missense_Mutation_p.E802Q|ZNF438_uc010qeb.1_Missense_Mutation_p.E802Q NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 802 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) GAAGGGTCCTCACAGTTATGC 0.517 NA 7 184 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37506697 37506697 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:37506697G>C uc001iza.1 + 33 3089 c.2990G>C c.(2989-2991)GGA>GCA p.G997A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1053 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GAAGAATTAGGAAGAATCGAA 0.318 NA 3 40 0 0 0 0 ALOX5 240 broad.mit.edu 37 10 45941026 45941026 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:45941026G>A uc001jce.2 + 14 2015 c.1916G>A c.(1915-1917)CGC>CAC p.R639H ALOX5_uc009xmt.2_Missense_Mutation_p.R607H|ALOX5_uc010qfg.1_Missense_Mutation_p.R582H NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 639 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GCCCGATTCCGCAAGAACCTC 0.532 NA 7 52 0 0 0 0 CTNNA3 29119 broad.mit.edu 37 10 67829147 67829147 + Missense_Mutation SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:67829147A>T uc009xpn.1 - 15 2201 c.2078T>A c.(2077-2079)ATA>AAA p.I693K CTNNA3_uc001jmw.2_Missense_Mutation_p.I693K NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 693 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 ATCATCCCATATCTCAATCTC 0.403 NA 35 91 0 0 0 0 WAPAL 23063 broad.mit.edu 37 10 88232379 88232379 + Missense_Mutation SNP T T A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:88232379T>A uc001kdo.2 - 6 2325 c.1883A>T c.(1882-1884)GAA>GTA p.E628V WAPAL_uc009xsv.2_5'Flank|WAPAL_uc001kdn.2_Missense_Mutation_p.E665V|WAPAL_uc009xsw.2_Missense_Mutation_p.E622V NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 628 Mediates interaction with the cohesin complex.|WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 TTCTTTGTCTTCTCGTCTGCA 0.358 NA 9 35 0 0 0 0 ZDHHC16 84287 broad.mit.edu 37 10 99211482 99211482 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:99211482G>A uc001knj.2 + 3 399 c.50G>A c.(49-51)CGC>CAC p.R17H ZDHHC16_uc001knp.2_Missense_Mutation_p.R17H|ZDHHC16_uc001knk.2_Missense_Mutation_p.R17H|ZDHHC16_uc001knl.2_Missense_Mutation_p.R17H|ZDHHC16_uc001knm.2_Missense_Mutation_p.R17H|ZDHHC16_uc001knn.2_Missense_Mutation_p.R17H|ZDHHC16_uc010qow.1_Missense_Mutation_p.R17H|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Missense_Mutation_p.R17H|ZDHHC16_uc009xvr.2_Missense_Mutation_p.R17H NM_198046 NP_932163 Q969W1 ZDH16_HUMAN Abl-philin 2 isoform 1 17 Cytoplasmic (Potential). apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) CTCTGCCTCCGCCTCCTTCTG 0.667 NA 16 23 0 0 0 0 SORCS3 22986 broad.mit.edu 37 10 106976783 106976783 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:106976783C>G uc001kyi.1 + 19 2864 c.2637C>G c.(2635-2637)ATC>ATG p.I879M SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 879 PKD.|Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGGACGGCATCAAGCACGTGT 0.517 NA 13 35 0 0 0 0 GFRA1 2674 broad.mit.edu 37 10 117884986 117884986 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:117884986C>T uc001lcj.2 - 6 1214 c.516G>A c.(514-516)TCG>TCA p.S172S GFRA1_uc001lci.2_Silent_p.S167S|GFRA1_uc009xyr.2_Silent_p.S167S NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 172 2 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) TGATGTACGCCGACCTGTACT 0.577 NA 12 28 0 0 0 0 PSMA1 5682 broad.mit.edu 37 11 14526746 14526746 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:14526746C>T uc001mlk.2 - 10 930 c.784G>A c.(784-786)GAA>AAA p.E262K PSMA1_uc001mll.2_Missense_Mutation_p.E268K|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_Missense_Mutation_p.E237K NM_002786 NP_002777 P25786 PSA1_HUMAN proteasome alpha 1 subunit isoform 2 262 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity upper_aerodigestive_tract(1)|skin(1) 2 ACTTAATGTTCCATTGGTTCA 0.333 NA 26 70 0 0 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195639 18195639 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:18195639G>C uc001mnv.1 + 1 1256 c.836G>C c.(835-837)AGG>ACG p.R279T NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 279 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GGCTCCTTTAGGCAGCGTCAA 0.488 NA 13 66 0 0 0 0 IGSF22 283284 broad.mit.edu 37 11 18735568 18735568 + Nonsense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:18735568G>T uc009yht.2 - 14 2116 c.1926C>A c.(1924-1926)TAC>TAA p.Y642* IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 642 Ig-like 4. ovary(4)|large_intestine(2)|kidney(1) 7 TGCCATCCTTGTACCATGTCA 0.602 NA 24 64 9.86e-18 1.14e-17 1 0 ANO5 203859 broad.mit.edu 37 11 22257816 22257816 + Silent SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:22257816C>A uc001mqi.2 + 8 1073 c.756C>A c.(754-756)CTC>CTA p.L252L ANO5_uc001mqj.2_Silent_p.L251L NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 252 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 CCTATCCACTCCATGATGTAT 0.383 NA 11 37 5.17e-11 5.83e-11 1 0 TCP11L1 55346 broad.mit.edu 37 11 33083210 33083210 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:33083210G>A uc001mud.2 + 7 1310 c.910G>A c.(910-912)GTC>ATC p.V304I TCP11L1_uc009yju.2_Missense_Mutation_p.V119I|TCP11L1_uc010rei.1_Missense_Mutation_p.V304I|TCP11L1_uc001mue.2_Missense_Mutation_p.V304I|TCP11L1_uc001muf.1_RNA NM_018393 NP_060863 Q9NUJ3 T11L1_HUMAN t-complex 11 (mouse) like 1 304 0 CCCTGTTGCTGTCCAGAATTA 0.547 NA 5 17 0 0 0 0 OR4C11 219429 broad.mit.edu 37 11 55371357 55371357 + Missense_Mutation SNP G G A rs141808171 byFrequency TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:55371357G>A uc010rii.1 - 1 493 c.493C>T c.(493-495)CCT>TCT p.P165S NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCACAGAAAGGCAATCTTAAG 0.443 NA 16 14 0 0 0 0 OR5D13 390142 broad.mit.edu 37 11 55541352 55541352 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:55541352G>T uc010ril.1 + 1 439 c.439G>T c.(439-441)GTG>TTG p.V147L NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TGCTCTTCTGGTGGCTGGGTC 0.403 NA 15 137 2e-07 2.22e-07 1 0 PC 5091 broad.mit.edu 37 11 66617416 66617416 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:66617416G>A uc001ojn.1 - 18 2939 c.2890C>T c.(2890-2892)CGC>TGC p.R964C PC_uc001ojo.1_Missense_Mutation_p.R964C|PC_uc001ojp.1_Missense_Mutation_p.R964C|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 964 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) ACCTTAGAGCGAAAGGGTTCG 0.627 NA 10 31 0 0 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800175 74800175 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:74800175G>C uc010rro.1 - 1 584 c.584C>G c.(583-585)TCT>TGT p.S195C NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGTGGTGTCAGAGCAGGAGGC 0.567 NA 3 34 0 0 0 0 CUL5 8065 broad.mit.edu 37 11 107925516 107925516 + Missense_Mutation SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:107925516A>T uc001pjv.2 + 6 1363 c.696A>T c.(694-696)AAA>AAT p.K232N CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 232 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) ATTATATGAAATATGTAAGTT 0.323 NA 15 25 0 0 0 0 OR10S1 219873 broad.mit.edu 37 11 123848324 123848324 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:123848324G>A uc001pzm.1 - 1 75 c.75C>T c.(73-75)TTC>TTT p.F25F NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCTCCAGGAAGAAGTGGCTCA 0.502 NA 6 77 0 0 0 0 NFRKB 4798 broad.mit.edu 37 11 129746654 129746654 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:129746654C>T uc001qfi.2 - 17 1910 c.1709G>A c.(1708-1710)CGC>CAC p.R570H NFRKB_uc001qfg.2_Missense_Mutation_p.R595H|NFRKB_uc001qfh.2_Missense_Mutation_p.R593H|NFRKB_uc010sbw.1_Missense_Mutation_p.R580H|NFRKB_uc009zcr.2_5'Flank NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 570 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CCGGTCGGAGCGCAGCAGGGA 0.572 NA 8 37 0 0 0 0 COPS7A 50813 broad.mit.edu 37 12 6839587 6839587 + Missense_Mutation SNP G G A rs144125600 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:6839587G>A uc001qqj.2 + 6 789 c.550G>A c.(550-552)GTG>ATG p.V184M COPS7A_uc009zex.2_RNA|COPS7A_uc001qqk.2_Missense_Mutation_p.V184M|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Missense_Mutation_p.V184M|COPS7A_uc001qqi.2_Missense_Mutation_p.V184M|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Missense_Mutation_p.V184M|COPS7A_uc001qqo.2_Missense_Mutation_p.V184M NM_001164094 NP_001157566 Q9UBW8 CSN7A_HUMAN COP9 complex subunit 7a 184 cullin deneddylation cytoplasm|signalosome ovary(1) 1 CTGTGAGGTCGTGCTGTCAGG 0.567 NA 4 73 0 0 0 0 ITPR2 3709 broad.mit.edu 37 12 26493141 26493141 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:26493141C>T uc001rhg.2 - 56 8395 c.7978G>A c.(7978-7980)GTC>ATC p.V2660I NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2660 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) AGCTGTTTGACCAGACTCATG 0.547 NA 18 35 0 0 0 0 ITPR2 3709 broad.mit.edu 37 12 26572049 26572049 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:26572049T>C uc001rhg.2 - 50 7460 c.7043A>G c.(7042-7044)TAT>TGT p.Y2348C ITPR2_uc009zjg.1_Missense_Mutation_p.Y499C NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2348 Extracellular (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CGCCACGTGATAGAGAAAGGC 0.453 NA 19 51 0 0 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27826759 27826759 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:27826759G>T uc001ric.1 + 16 1807 c.1430G>T c.(1429-1431)GGG>GTG p.G477V PPFIBP1_uc010sjr.1_Missense_Mutation_p.G308V|PPFIBP1_uc001rib.1_Missense_Mutation_p.G460V|PPFIBP1_uc001ria.2_Missense_Mutation_p.G446V|PPFIBP1_uc001rid.1_Missense_Mutation_p.G324V|PPFIBP1_uc001rif.1_5'Flank NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 477 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) ACATCTGATGGGGTGGGTTCT 0.348 NA 11 41 5.17e-11 5.83e-11 1 0 ALG10 84920 broad.mit.edu 37 12 34179307 34179307 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:34179307C>T uc001rlm.2 + 3 1198 c.879C>T c.(877-879)TAC>TAT p.Y293Y NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 293 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) AACTATTCTACTTTTTTTCAT 0.348 NA 43 111 0 0 0 0 OR6C65 403282 broad.mit.edu 37 12 55794794 55794794 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:55794794G>A uc010spl.1 + 1 482 c.482G>A c.(481-483)GGC>GAC p.G161D NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, 161 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTGATTATGGGCCTCCAACTG 0.433 NA 75 163 0 0 0 0 PDX1 3651 broad.mit.edu 37 13 28498614 28498614 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr13:28498614G>A uc001urt.2 + 2 736 c.628G>A c.(628-630)GGC>AGC p.G210S NM_000209 NP_000200 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 210 GG -> SS (in Ref. 6; AAC05157). detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CAAGAAGCGCGGCGGCGGGAC 0.582 NA 7 16 0 0 0 0 DIS3 22894 broad.mit.edu 37 13 73349468 73349468 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr13:73349468C>G uc001vix.3 - 6 1242 c.868G>C c.(868-870)GAT>CAT p.D290H DIS3_uc001viy.3_Missense_Mutation_p.D260H|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 290 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) GCCACAATATCTTCGTGAACA 0.388 NA Multiple Myeloma(4;0.011) 18 65 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77651324 77651324 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr13:77651324C>T uc001vkf.2 - 68 11660 c.11569G>A c.(11569-11571)GAA>AAA p.E3857K MYCBP2_uc010aev.2_Missense_Mutation_p.E3261K|MYCBP2_uc001vke.2_Missense_Mutation_p.E477K NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3857 DOC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GTCTCAGCTTCACAGTTCCTC 0.433 NA 14 33 0 0 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455029 84455029 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr13:84455029G>A uc001vlk.2 - 1 1500 c.614C>T c.(613-615)GCG>GTG p.A205V NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 205 Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CAGGATCTCCGCAATACCAGG 0.542 NA 22 39 0 0 0 0 CHD8 57680 broad.mit.edu 37 14 21873943 21873943 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:21873943C>T uc001was.1 - 15 2245 c.2151G>A c.(2149-2151)CCG>CCA p.P717P CHD8_uc001war.1_Silent_p.P613P|CHD8_uc001wav.1_Silent_p.P159P NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 996 Helicase ATP-binding. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GAAATTGTGACGGTTCCAAGA 0.418 NA 8 130 0 0 0 0 NPAS3 64067 broad.mit.edu 37 14 34263139 34263139 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:34263139G>A uc001wru.2 + 10 1254 c.1190G>A c.(1189-1191)CGC>CAC p.R397H NPAS3_uc001wrs.2_Missense_Mutation_p.R384H|NPAS3_uc001wrt.2_Missense_Mutation_p.R365H|NPAS3_uc001wrv.2_Missense_Mutation_p.R367H NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 397 PAC. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) AAGTACTATCGCTGGATGCAG 0.373 NA 10 47 0 0 0 0 ITPK1 3705 broad.mit.edu 37 14 93408122 93408122 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:93408122G>A uc001ybg.2 - 11 1318 c.1029C>T c.(1027-1029)GCC>GCT p.A343A ITPK1_uc001ybe.2_Intron|ITPK1_uc001ybf.2_Silent_p.A224A|ITPK1_uc001ybh.2_Silent_p.A343A NM_014216 NP_055031 Q13572 ITPK1_HUMAN inositol 1,3,4-triphosphate 5/6 kinase isoform 343 blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding 0 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) CCGCCGGCTCGGCCAGAAGCT 0.711 NA 4 14 0 0 0 0 ITPK1 3705 broad.mit.edu 37 14 93412800 93412800 + Missense_Mutation SNP G G T rs144084022 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:93412800G>T uc001ybg.2 - 10 1066 c.777C>A c.(775-777)GAC>GAA p.D259E ITPK1_uc001ybe.2_Missense_Mutation_p.D259E|ITPK1_uc001ybf.2_Missense_Mutation_p.D140E|ITPK1_uc001ybh.2_Missense_Mutation_p.D259E NM_014216 NP_055031 Q13572 ITPK1_HUMAN inositol 1,3,4-triphosphate 5/6 kinase isoform 259 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding 0 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) GGATGACCTCGTCGCTCGGCC 0.637 NA 5 41 0.000602214 0.00063008 1 0 AHNAK2 113146 broad.mit.edu 37 14 105409647 105409647 + Silent SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:105409647G>C uc010axc.1 - 7 12261 c.12141C>G c.(12139-12141)CTC>CTG p.L4047L AHNAK2_uc001ypx.2_Silent_p.L3947L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4047 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) GGTGCCCTTTGAGGCTGGCTC 0.627 NA 9 200 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 33962690 33962690 + Silent SNP T T G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:33962690T>G uc001zhi.2 + 38 5863 c.5793T>G c.(5791-5793)GTT>GTG p.V1931V RYR3_uc010bar.2_Silent_p.V1931V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1931 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTGCCTTGGTTTACAAAATCA 0.448 NA 10 35 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43815140 43815140 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:43815140G>A uc001zrt.2 + 4 1936 c.1469G>A c.(1468-1470)CGT>CAT p.R490H NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 490 Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE]. cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GACAGGAGCCGTGCTATCCGT 0.542 NA 10 12 0 0 0 0 USP8 9101 broad.mit.edu 37 15 50763974 50763974 + Silent SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:50763974G>C uc001zym.3 + 9 1331 c.831G>C c.(829-831)CTG>CTC p.L277L USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Silent_p.L277L|USP8_uc001zyn.3_Silent_p.L277L|USP8_uc010ufh.1_Silent_p.L200L|USP8_uc010bev.1_Intron NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 277 Rhodanese. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TCCGGAGTCTGAAAGATGCAC 0.393 NA 4 103 0 0 0 0 PRTG 283659 broad.mit.edu 37 15 55931991 55931991 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:55931991G>A uc002adg.2 - 13 2221 c.2173C>T c.(2173-2175)CCC>TCC p.P725S NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 725 Fibronectin type-III 4. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AGATGGTGGGGTGGTGGTGGA 0.448 NA 6 63 0 0 0 0 DPP8 54878 broad.mit.edu 37 15 65793046 65793046 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:65793046G>A uc002aov.2 - 4 2070 c.492C>T c.(490-492)GTC>GTT p.V164V DPP8_uc002aow.2_Silent_p.V164V|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Silent_p.V148V|DPP8_uc002aoy.2_Silent_p.V164V|DPP8_uc002aoz.2_Silent_p.V148V|DPP8_uc010bhj.2_Silent_p.V164V|DPP8_uc002apa.2_Silent_p.V61V NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 164 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 AAGCAATTCCGACTGTTCCAA 0.398 NA 40 82 0 0 0 0 MYO9A 4649 broad.mit.edu 37 15 72119040 72119040 + Nonsense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:72119040G>A uc002atl.3 - 42 8001 c.7528C>T c.(7528-7530)CAG>TAG p.Q2510* MYO9A_uc002atj.2_Nonsense_Mutation_p.Q441*|MYO9A_uc002atk.2_Nonsense_Mutation_p.Q1305* NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 2510 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 TTGGTTTTCTGAGGTGAGTTT 0.478 NA 36 87 0 0 0 0 ADPGK 83440 broad.mit.edu 37 15 73048712 73048712 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:73048712C>T uc002avg.3 - 5 814 c.720G>A c.(718-720)ATG>ATA p.M240I ADPGK_uc002ave.3_5'UTR|ADPGK_uc010ukw.1_Missense_Mutation_p.M182I|ADPGK_uc002avf.3_Missense_Mutation_p.M240I|ADPGK_uc002avi.3_Missense_Mutation_p.M118I|ADPGK_uc002avh.3_Missense_Mutation_p.M1I NM_031284 NP_112574 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 240 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding 0 CCAGCATATTCATGGCCCCGT 0.537 NA 5 63 0 0 0 0 RLBP1 6017 broad.mit.edu 37 15 89754989 89754989 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:89754989C>T uc002bnl.2 - 7 1049 c.669G>A c.(667-669)ATG>ATA p.M223I NM_000326 NP_000317 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 223 CRAL-TRIO. response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1) 1 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) GCATGTCCACCATCTTCCTGA 0.547 NA 3 40 0 0 0 0 VPS33B 26276 broad.mit.edu 37 15 91542965 91542965 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:91542965G>C uc002bqp.1 - 22 2070 c.1716C>G c.(1714-1716)TTC>TTG p.F572L VPS33B_uc002bqq.1_Missense_Mutation_p.F481L|VPS33B_uc010uqu.1_Missense_Mutation_p.F545L NM_018668 NP_061138 Q9H267 VP33B_HUMAN vacuolar protein sorting 33B (yeast homolog)) 572 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding ovary(2) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) AACCACCCAAGAACACCACCA 0.507 NA 8 216 0 0 0 0 IFT140 9742 broad.mit.edu 37 16 1614075 1614075 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:1614075C>T uc002cmb.2 - 17 2352 c.1990G>A c.(1990-1992)GAA>AAA p.E664K IFT140_uc002clz.2_Missense_Mutation_p.E315K NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 664 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) TGCACGGCTTCGCATACAAAC 0.577 NA 5 53 0 0 0 0 CREBBP 1387 broad.mit.edu 37 16 3820572 3820572 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:3820572G>C uc002cvv.2 - 14 3083 c.2879C>G c.(2878-2880)CCG>CGG p.P960R CREBBP_uc002cvw.2_Missense_Mutation_p.P922R NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 960 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GAGGCTTACCGGTGTGCCAGG 0.488 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 54 221 0 0 0 0 ACSM2B 348158 broad.mit.edu 37 16 20565237 20565237 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:20565237G>A uc002dhj.3 - 6 812 c.602C>T c.(601-603)GCA>GTA p.A201V ACSM2B_uc002dhk.3_Missense_Mutation_p.A201V|ACSM2B_uc010bwf.1_Missense_Mutation_p.A201V NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 201 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 AGTGGTGGATGCCTCACTGAC 0.493 NA 14 44 0 0 0 0 FHOD1 29109 broad.mit.edu 37 16 67263809 67263809 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:67263809G>T uc002esl.2 - 21 3411 c.3299C>A c.(3298-3300)CCC>CAC p.P1100H LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|FHOD1_uc002esk.2_Missense_Mutation_p.P159H|FHOD1_uc010ced.2_Missense_Mutation_p.P907H NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1100 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TGTATCACTGGGTAAACTGGA 0.587 NA 20 50 7.45e-12 8.49e-12 1 0 PRMT7 54496 broad.mit.edu 37 16 68390961 68390961 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:68390961G>A uc002evy.1 + 19 2189 c.1913G>A c.(1912-1914)GGC>GAC p.G638D PRMT7_uc010vlg.1_Missense_Mutation_p.G588D|PRMT7_uc002evz.1_Missense_Mutation_p.G410D NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 638 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CTACAGGGGGGCTGCTGCTGG 0.632 NA 4 28 0 0 0 0 TUSC5 286753 broad.mit.edu 37 17 1183494 1183494 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:1183494G>A uc002fsi.1 + 1 538 c.199G>A c.(199-201)GAG>AAG p.E67K NM_172367 NP_758955 Q8IXB3 TUSC5_HUMAN LOST1 67 response to biotic stimulus integral to membrane skin(2) 2 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGCCATCTCCGAGGGGCACCT 0.632 NA 17 54 0 0 0 0 MYO1C 4641 broad.mit.edu 37 17 1387576 1387576 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:1387576G>A uc002fsp.2 - 2 317 c.97C>T c.(97-99)CGG>TGG p.R33W MYO1C_uc002fsn.2_Missense_Mutation_p.R14W|MYO1C_uc002fso.2_5'UTR|MYO1C_uc010vqj.1_5'UTR|MYO1C_uc010vqk.1_Missense_Mutation_p.R9W NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 33 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ATGGTCACCCGAACCCCGTCA 0.652 NA 6 24 0 0 0 0 WSCD1 23302 broad.mit.edu 37 17 5998441 5998441 + Silent SNP C C T rs148922288 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:5998441C>T uc010cli.2 + 5 1126 c.747C>T c.(745-747)CGC>CGT p.R249R WSCD1_uc002gcn.2_Silent_p.R249R|WSCD1_uc002gco.2_Silent_p.R249R|WSCD1_uc010clj.2_5'UTR NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 249 WSC 2. integral to membrane sulfotransferase activity 0 CCACCTACCGCGGATGCTTCC 0.572 NA 18 82 0 0 0 0 SPAG5 10615 broad.mit.edu 37 17 26913009 26913009 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:26913009C>T uc002hbq.2 - 7 1705 c.1613G>A c.(1612-1614)CGT>CAT p.R538H SGK494_uc010waq.1_Intron NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 538 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) TGTTTCTGCACGCCGAGACTA 0.483 NA 46 143 0 0 0 0 MED24 9862 broad.mit.edu 37 17 38175892 38175892 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:38175892C>T uc002htt.2 - 26 3173 c.2860G>A c.(2860-2862)GAA>AAA p.E954K MED24_uc010weq.1_Missense_Mutation_p.E76K|MED24_uc002htr.2_Missense_Mutation_p.E66K|MED24_uc010wer.1_Missense_Mutation_p.E332K|MED24_uc010wes.1_Missense_Mutation_p.E814K|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.E979K|MED24_uc002htu.2_Missense_Mutation_p.E941K|MED24_uc010cwn.2_Missense_Mutation_p.E941K|MED24_uc010weu.1_Missense_Mutation_p.E864K NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 954 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) TTCACCAGTTCCGACACCTGC 0.657 NA 20 42 0 0 0 0 VEZF1 7716 broad.mit.edu 37 17 56060414 56060414 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:56060414C>T uc002ivf.1 - 2 517 c.374G>A c.(373-375)CGA>CAA p.R125Q VEZF1_uc010dcn.1_5'UTR NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 125 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 CAACGAAGTTCGGCTGCTGTC 0.567 NA 10 36 0 0 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257777 9257777 + Silent SNP G G T rs74916798 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr18:9257777G>T uc002knv.2 + 9 4769 c.4512G>T c.(4510-4512)TCG>TCT p.S1504S ANKRD12_uc002knw.2_Silent_p.S1481S|ANKRD12_uc002knx.2_Silent_p.S1481S|ANKRD12_uc010dkx.1_Silent_p.S1211S NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 1504 nucleus ovary(2)|central_nervous_system(1) 3 ATGCTGAATCGATTTCTAAAC 0.413 NA 11 35 7.04e-09 7.87e-09 1 0 KCTD1 284252 broad.mit.edu 37 18 24039710 24039710 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr18:24039710C>G uc002kvw.2 - 4 1049 c.489G>C c.(487-489)TTG>TTC p.L163F KCTD1_uc010xbj.1_Missense_Mutation_p.L771F|KCTD1_uc010xbk.1_Missense_Mutation_p.L163F|KCTD1_uc002kvy.2_Missense_Mutation_p.L81F NM_001136205 NP_001129677 Q719H9 KCTD1_HUMAN potassium channel tetramerisation domain 163 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity ovary(1) 1 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) CTTCTTCTATCAAGGATTTGT 0.512 NA 4 63 0 0 0 0 S1PR4 8698 broad.mit.edu 37 19 3179595 3179595 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:3179595G>A uc002lxg.2 + 1 830 c.805G>A c.(805-807)GGG>AGG p.G269R NM_003775 NP_003766 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 precursor 269 Helical; Name=6; (By similarity). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|skin(1) 2 CCCACTCTTCGGGCTGCTGCT 0.697 NA 31 56 0 0 0 0 ZNF763 284390 broad.mit.edu 37 19 12089308 12089308 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:12089308G>A uc002msw.2 + 4 724 c.569G>A c.(568-570)CGC>CAC p.R190H ZNF763_uc010xmf.1_Missense_Mutation_p.R210H|ZNF763_uc002msv.2_Missense_Mutation_p.R193H|ZNF763_uc010xmg.1_Missense_Mutation_p.R68H NM_001012753 NP_001012771 Q0D2J5 ZN763_HUMAN zinc finger protein 763 190 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 ATTCGAAGACGCATGGTAATG 0.408 NA 40 94 0 0 0 0 UNC13A 23025 broad.mit.edu 37 19 17768990 17768990 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:17768990C>T uc002nhd.2 - 10 912 c.912G>A c.(910-912)ACG>ACA p.T304T NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 216 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 TGGGTTGTGACGTAGTATAAT 0.557 NA 3 31 0 0 0 0 SLC7A10 56301 broad.mit.edu 37 19 33702376 33702376 + Missense_Mutation SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:33702376C>A uc002num.2 - 6 1003 c.856G>T c.(856-858)GCC>TCC p.A286S SLC7A10_uc002nul.2_5'UTR NM_019849 NP_062823 Q9NS82 AAA1_HUMAN solute carrier family 7, member 10 286 Helical; (Potential). blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(110;0.137) GTGAAGTAGGCAATGTTGGTG 0.627 NA 5 20 0.000602214 0.00063008 1 0 HKR1 284459 broad.mit.edu 37 19 37854366 37854366 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:37854366G>A uc002ogb.2 + 6 1938 c.1669G>A c.(1669-1671)GAG>AAG p.E557K HKR1_uc002ofx.2_Missense_Mutation_p.E273K|HKR1_uc002ofy.2_Missense_Mutation_p.E273K|HKR1_uc002oga.2_Missense_Mutation_p.E539K|HKR1_uc010xto.1_Missense_Mutation_p.E539K|HKR1_uc002ogc.2_Missense_Mutation_p.E538K|HKR1_uc010xtp.1_Missense_Mutation_p.E496K|HKR1_uc002ogd.2_Missense_Mutation_p.E496K NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 557 C2H2-type 10. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATGTGCAGGGAGTGTGGCAG 0.512 NA 9 25 0 0 0 0 ZNF419 79744 broad.mit.edu 37 19 58004287 58004287 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:58004287G>A uc002qov.2 + 5 602 c.362G>A c.(361-363)AGT>AAT p.S121N ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.S122N|ZNF419_uc010etz.1_Missense_Mutation_p.S109N|ZNF419_uc010eua.1_Missense_Mutation_p.S108N|ZNF419_uc002qow.2_Missense_Mutation_p.S89N|ZNF419_uc010eub.1_Missense_Mutation_p.S76N|ZNF419_uc010euc.1_Missense_Mutation_p.S75N NM_024691 NP_078967 Q96HQ0 ZN419_HUMAN zinc finger protein 419 isoform 2 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) GGACTGCTCAGTTCAAACATT 0.473 NA 6 27 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33413884 33413884 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:33413884T>C uc002ros.2 + 7 1667 c.1667T>C c.(1666-1668)CTT>CCT p.L556P LTBP1_uc002rot.2_Missense_Mutation_p.L230P|LTBP1_uc002rou.2_Missense_Mutation_p.L230P|LTBP1_uc002rov.2_Missense_Mutation_p.L230P|LTBP1_uc010ymz.1_Missense_Mutation_p.L230P|LTBP1_uc010yna.1_Missense_Mutation_p.L230P NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 556 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AAGACACAGCTTGGCCGGTGC 0.498 NA 36 80 0 0 0 0 GPR75 10936 broad.mit.edu 37 2 54080512 54080512 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:54080512G>A uc002rxo.3 - 2 1653 c.1382C>T c.(1381-1383)TCT>TTT p.S461F ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 461 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATGTCCAGCAGAGATCTTGGG 0.488 NA 16 134 0 0 0 0 COX5B 1329 broad.mit.edu 37 2 98264531 98264531 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:98264531G>A uc002sya.2 + 4 379 c.350G>A c.(349-351)GGA>GAA p.G117E NM_001862 NP_001853 P10606 COX5B_HUMAN cytochrome c oxidase subunit Vb precursor 117 respiratory electron transport chain|respiratory gaseous exchange mitochondrial inner membrane cytochrome-c oxidase activity|metal ion binding 0 CCCCGCTGTGGAGCCCATTAC 0.502 NA 3 30 0 0 0 0 GRB14 2888 broad.mit.edu 37 2 165365311 165365311 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:165365311C>T uc002ucl.2 - 7 1409 c.868G>A c.(868-870)GTG>ATG p.V290M GRB14_uc010zcv.1_Missense_Mutation_p.V203M|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 290 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 GCCAGTGACACATAAATATCA 0.348 NA 16 63 0 0 0 0 CIR1 9541 broad.mit.edu 37 2 175252492 175252492 + Nonsense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:175252492G>A uc002uim.2 - 2 181 c.88C>T c.(88-90)CAG>TAG p.Q30* CIR1_uc002uin.2_5'UTR|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_5'UTR NM_004882 NP_004873 Q86X95 CIR1_HUMAN CBF1 interacting corepressor 30 Interaction with RBPJ. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity large_intestine(1) 1 GATATTTTCTGTTCTGCCATC 0.254 NA 11 42 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:178098810C>G uc002ulh.3 - 2 790 c.235G>C c.(235-237)GAG>CAG p.E79Q NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 3 46 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098957 178098957 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:178098957G>A uc002ulh.3 - 2 643 c.88C>T c.(88-90)CTT>TTT p.L30F NFE2L2_uc002ulg.3_Missense_Mutation_p.L14F|NFE2L2_uc010zfa.1_Missense_Mutation_p.L14F|NFE2L2_uc002uli.3_Missense_Mutation_p.L14F|NFE2L2_uc010fra.2_Missense_Mutation_p.L14F|NFE2L2_uc010frb.2_Missense_Mutation_p.L14F NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 30 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) CTTACTCCAAGATCTATATCT 0.368 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 7 25 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179584490 179584490 + Missense_Mutation SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:179584490C>A uc010zfg.1 - 79 20221 c.19997G>T c.(19996-19998)TGT>TTT p.C6666F TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.C3327F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7593 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) AGTCACTACACACTCTAATGC 0.398 NA 4 54 0.00024832 0.00026251 1 0 MPP4 58538 broad.mit.edu 37 2 202523236 202523236 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:202523236C>T uc002uyk.3 - 16 1301 c.1093G>A c.(1093-1095)GAG>AAG p.E365K MPP4_uc002uyi.3_5'UTR|MPP4_uc010ftj.2_Missense_Mutation_p.E358K|MPP4_uc010zhq.1_Missense_Mutation_p.E334K|MPP4_uc010zhr.1_Missense_Mutation_p.E341K|MPP4_uc010zhs.1_Missense_Mutation_p.E290K|MPP4_uc002uyj.3_Missense_Mutation_p.E330K|MPP4_uc010zht.1_Missense_Mutation_p.E307K|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.E321K NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 365 cytoplasm protein binding 0 ACAAACTCCTCCTTGTCTGAA 0.368 NA 8 15 0 0 0 0 ACCN4 55515 broad.mit.edu 37 2 220397137 220397137 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:220397137G>A uc002vma.2 + 4 1351 c.1337G>A c.(1336-1338)CGG>CAG p.R446Q ACCN4_uc010fwi.1_Missense_Mutation_p.R446Q|ACCN4_uc010fwj.1_Missense_Mutation_p.R446Q|ACCN4_uc002vly.1_3'UTR|ACCN4_uc002vlz.2_Missense_Mutation_p.R446Q|ACCN4_uc002vmb.2_Missense_Mutation_p.R100Q NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 446 Extracellular (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) TCTGCCTGCCGGCTGCGCTGT 0.677 NA 15 24 0 0 0 0 RBM44 375316 broad.mit.edu 37 2 238726938 238726938 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:238726938G>A uc002vxi.3 + 3 1511 c.1379G>A c.(1378-1380)AGT>AAT p.S460N NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 459 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GATGCAGCAAGTTGTACAGTC 0.398 NA 15 28 0 0 0 0 SLC5A4 6527 broad.mit.edu 37 22 32625325 32625325 + Missense_Mutation SNP C C T rs142416109 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr22:32625325C>T uc003ami.2 - 11 1138 c.1136G>A c.(1135-1137)CGA>CAA p.R379Q NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 379 Extracellular (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CATCAGGCCTCGCAGTCCTGG 0.537 NA 5 36 0 0 0 0 APOL2 23780 broad.mit.edu 37 22 36623928 36623928 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr22:36623928G>A uc003aoz.2 - 5 872 c.536C>T c.(535-537)GCC>GTC p.A179V APOL2_uc011amm.1_Missense_Mutation_p.A291V|APOL2_uc003apa.2_Missense_Mutation_p.A179V NM_030882 NP_112092 Q9BQE5 APOL2_HUMAN apolipoprotein L2 179 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding 0 GCGGGCTTGGGCTCGTGCCCG 0.517 NA 16 37 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41564866 41564866 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr22:41564866C>G uc003azl.3 + 25 4562 c.4167C>G c.(4165-4167)AAC>AAG p.N1389K NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1389 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CTCCACCCAACCAGAGGTATG 0.458 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 5 80 0 0 0 0 MTMR14 64419 broad.mit.edu 37 3 9691417 9691417 + Silent SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:9691417C>A uc003brz.2 + 1 274 c.150C>A c.(148-150)GGC>GGA p.G50G MTMR14_uc003bsa.2_Silent_p.G50G|MTMR14_uc003bsb.2_Silent_p.G50G|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Silent_p.G50G NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN jumpy isoform 2 50 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(99;0.227) GCGGGACCGGCGGCTCTAAGG 0.612 NA 7 13 5.18e-06 5.62e-06 1 0 PLCL2 23228 broad.mit.edu 37 3 17056295 17056295 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:17056295C>T uc011awc.1 + 6 2991 c.2886C>T c.(2884-2886)CCC>CCT p.P962P PLCL2_uc011awd.1_Silent_p.P844P NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 970 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 TTCTGGGGCCCGATAACACAC 0.542 NA 43 115 0 0 0 0 TBC1D5 9779 broad.mit.edu 37 3 17226630 17226630 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:17226630T>C uc003cbf.2 - 19 3488 c.1823A>G c.(1822-1824)TAC>TGC p.Y608C TBC1D5_uc010heu.2_Missense_Mutation_p.Y195C|TBC1D5_uc010hev.2_Missense_Mutation_p.Y630C|TBC1D5_uc003cbe.2_Missense_Mutation_p.Y608C|TBC1D5_uc010hew.1_Missense_Mutation_p.Y582C NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 608 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 CTTTGCACAGTATTTGCACAT 0.383 NA 18 50 0 0 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28557085 28557085 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:28557085G>A uc003ceh.2 + 8 925 c.757G>A c.(757-759)GAT>AAT p.D253N ZCWPW2_uc003cei.2_Missense_Mutation_p.D253N|ZCWPW2_uc010hfo.2_Missense_Mutation_p.D58N NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 253 zinc ion binding ovary(2) 2 TGTTTATTCTGATGATGCCTT 0.308 NA 7 20 0 0 0 0 SETD2 29072 broad.mit.edu 37 3 47147603 47147603 + Missense_Mutation SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:47147603A>T uc003cqs.2 - 6 4776 c.4723T>A c.(4723-4725)TTT>ATT p.F1575I SETD2_uc003cqv.2_Missense_Mutation_p.F1564I NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1575 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCTAGGACAAAGGTGTTCCTG 0.363 NA N|F|S|Mis clear cell renal carcinoma 10 26 0 0 0 0 PLXNB1 5364 broad.mit.edu 37 3 48460693 48460693 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:48460693C>G uc003csw.2 - 12 3062 c.2792G>C c.(2791-2793)CGG>CCG p.R931P PLXNB1_uc003csu.2_Missense_Mutation_p.R748P|PLXNB1_uc003csx.2_Missense_Mutation_p.R931P|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'Flank NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 931 Extracellular (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCGGATTTCCCGCTCCACATG 0.612 NA 9 12 0 0 0 0 CADM2 253559 broad.mit.edu 37 3 85932554 85932554 + Missense_Mutation SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:85932554A>T uc003dqj.2 + 3 951 c.325A>T c.(325-327)ATG>TTG p.M109L CADM2_uc003dqk.2_Missense_Mutation_p.M118L|CADM2_uc003dql.2_Missense_Mutation_p.M111L NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 109 Ig-like V-type.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) TTTATTTACAATGCCTGTCAA 0.428 NA 13 22 0 0 0 0 EPHA3 2042 broad.mit.edu 37 3 89468369 89468369 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:89468369G>T uc003dqy.2 + 11 2128 c.1903G>T c.(1903-1905)GTG>TTG p.V635L EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 635 Cytoplasmic (Potential).|Protein kinase.|ATP (By similarity). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATTTGGAGAGGTGTGCAGTGG 0.363 NA TSP Lung(6;0.00050) 25 41 7.93e-12 9.01e-12 1 0 FAM55C 91775 broad.mit.edu 37 3 101520161 101520161 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:101520161G>A uc003dvn.2 + 5 813 c.176G>A c.(175-177)CGA>CAA p.R59Q FAM55C_uc010hpn.2_Missense_Mutation_p.R59Q NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 59 extracellular region ovary(1)|pancreas(1)|skin(1) 3 GGAATTAGCCGAAATCCCTAC 0.532 NA 6 127 0 0 0 0 ADCY5 111 broad.mit.edu 37 3 123046600 123046600 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:123046600G>C uc003egh.1 - 7 1812 c.1812C>G c.(1810-1812)ATC>ATG p.I604M ADCY5_uc003egg.1_Missense_Mutation_p.I237M|ADCY5_uc003egi.1_Missense_Mutation_p.I163M NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 604 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) TGGTGATGTGGATGCGTCTAC 0.552 NA 3 25 0 0 0 0 GHSR 2693 broad.mit.edu 37 3 172165820 172165820 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:172165820G>A uc003fib.1 - 1 384 c.384C>T c.(382-384)TAC>TAT p.Y128Y GHSR_uc011bpv.1_Silent_p.Y128Y NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 128 Helical; Name=3; (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GCACCGTGGCGTAGGTGCAGC 0.632 NA 8 19 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 17 61 0 0 0 0 RGS12 6002 broad.mit.edu 37 4 3318626 3318626 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:3318626G>A uc003ggw.2 + 2 1633 c.729G>A c.(727-729)ACG>ACA p.T243T RGS12_uc003ggu.2_Silent_p.T243T|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.T243T|RGS12_uc003ggx.1_Silent_p.T243T NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 243 PID. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTCCTTCCACGAGCTCCAACC 0.532 NA 13 46 0 0 0 0 CLOCK 9575 broad.mit.edu 37 4 56315585 56315585 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:56315585C>G uc003haz.1 - 18 2353 c.1427G>C c.(1426-1428)AGA>ACA p.R476T CLOCK_uc003hba.1_Missense_Mutation_p.R476T|CLOCK_uc010igu.1_RNA NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 476 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) TGATGACCTTCTTTGCACCAT 0.398 NA 23 48 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126412412 126412412 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:126412412G>T uc003ifj.3 + 17 14435 c.14435G>T c.(14434-14436)AGG>ATG p.R4812M FAT4_uc011cgp.1_Missense_Mutation_p.R3053M|FAT4_uc003ifi.1_Missense_Mutation_p.R2289M NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4812 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GACCATGGGAGGTCTTCTTCA 0.512 NA 21 45 2.39e-15 2.74e-15 1 0 TMEM184C 55751 broad.mit.edu 37 4 148554974 148554974 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:148554974C>T uc003ila.3 + 9 1507 c.938C>T c.(937-939)TCA>TTA p.S313L NM_018241 NP_060711 Q9NVA4 T184C_HUMAN transmembrane protein 184C 313 integral to membrane 0 TACACATTCTCATATAAACCA 0.368 NA 4 83 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187525008 187525008 + Nonsense_Mutation SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:187525008C>A uc003izf.2 - 19 10860 c.10672G>T c.(10672-10674)GAA>TAA p.E3558* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3558 Extracellular (Potential).|Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CCTGAGTATTCTTCTCCAGAA 0.473 NA HNSCC(5;0.00058) 7 28 8.13e-05 8.64e-05 1 0 FAT1 2195 broad.mit.edu 37 4 187539863 187539863 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:187539863C>T uc003izf.2 - 10 8065 c.7877G>A c.(7876-7878)GGC>GAC p.G2626D NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2626 Extracellular (Potential).|Cadherin 24. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GGCATTGGAGCCCTCATCGGC 0.448 NA HNSCC(5;0.00058) 9 27 0 0 0 0 SPEF2 79925 broad.mit.edu 37 5 35659168 35659168 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:35659168C>T uc003jjo.2 + 8 1137 c.1026C>T c.(1024-1026)TCC>TCT p.S342S SPEF2_uc003jjn.1_Silent_p.S342S|SPEF2_uc003jjq.3_Silent_p.S342S NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 342 Potential. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGCGGCAGTCCCAGCAGGAGC 0.468 NA 11 18 0 0 0 0 MEF2C 4208 broad.mit.edu 37 5 88027717 88027717 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:88027717C>T uc003kjj.2 - 7 1312 c.639G>A c.(637-639)GGG>GGA p.G213G MEF2C_uc003kji.2_Silent_p.G213G|MEF2C_uc003kjk.2_Silent_p.G213G|MEF2C_uc003kjm.2_Silent_p.G211G|MEF2C_uc003kjl.2_Silent_p.G231G NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 213 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) CATACCCGTTCCCTGTTAACA 0.388 NA HNSCC(66;0.2) 6 11 0 0 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230437 140230437 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:140230437C>T uc003lhu.2 + 1 3081 c.2357C>T c.(2356-2358)ACG>ATG p.T786M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.T786M NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 786 Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGAGCGAACGGGAGAACCC 0.463 NA 17 53 0 0 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257232 140257232 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:140257232G>A uc003lic.2 + 1 2302 c.2175G>A c.(2173-2175)GCG>GCA p.A725A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A725A NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 725 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGCTCAGCGCCGCCCACCG 0.647 NA 4 26 0 0 0 0 KCNIP1 30820 broad.mit.edu 37 5 170148874 170148874 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:170148874C>T uc003mas.2 + 5 856 c.327C>T c.(325-327)TTC>TTT p.F109F KCNIP1_uc003map.2_Silent_p.F107F|KCNIP1_uc003mat.2_Silent_p.F98F|KCNIP1_uc010jjp.2_Silent_p.F70F|KCNIP1_uc010jjq.2_Silent_p.F123F NM_001034837 NP_001030009 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 isoform 1 109 EF-hand 2. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAATGCCTTCGACACCACTC 0.547 NA 51 96 0 0 0 0 BMP6 654 broad.mit.edu 37 6 7727808 7727808 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:7727808C>T uc003mxu.3 + 1 798 c.620C>T c.(619-621)GCC>GTC p.A207V NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 207 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) CAGGACAGCGCCTTCCTCAAC 0.647 NA 5 14 0 0 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056394 26056394 + Missense_Mutation SNP A A C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:26056394A>C uc003nfw.2 - 1 306 c.263T>G c.(262-264)GTG>GGG p.V88G NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 88 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 GCCCTTGCTCACCAGGCTCTT 0.532 NA 14 94 0 0 0 0 FKBPL 63943 broad.mit.edu 37 6 32097032 32097032 + Nonsense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:32097032G>A uc003nzr.2 - 2 796 c.526C>T c.(526-528)CAG>TAG p.Q176* ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN WAF-1/CIP1 stabilizing protein 39 176 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 CCAGGCAGCTGAAGCTCTGCT 0.572 NA 10 149 0 0 0 0 HACE1 57531 broad.mit.edu 37 6 105233004 105233004 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:105233004C>T uc003pqu.1 - 12 1542 c.1265G>A c.(1264-1266)GGC>GAC p.G422D HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.G422D|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Missense_Mutation_p.G75D NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 422 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TTCCCTTGTGCCAGTGGACAG 0.458 NA 3 46 0 0 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378489 114378489 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:114378489G>A uc003pwg.3 - 2 1005 c.973C>T c.(973-975)CGC>TGC p.R325C uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.R325C NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 325 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) AAGAATTTGCGCAATTTAGTA 0.408 NA 23 44 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129649434 129649434 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:129649434G>A uc003qbn.2 + 29 4293 c.4188G>A c.(4186-4188)CCG>CCA p.P1396P LAMA2_uc003qbo.2_Silent_p.P1396P NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1396 Laminin EGF-like 14; second part. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CATGCTTGCCGGGATTTTATC 0.507 NA 21 73 0 0 0 0 TCF21 6943 broad.mit.edu 37 6 134210907 134210907 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:134210907G>A uc003qei.3 + 1 648 c.372G>A c.(370-372)GCG>GCA p.A124A uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.A124A NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 124 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) TCAGGCTGGCGTCCAGCTACA 0.617 NA 32 94 0 0 0 0 AIG1 51390 broad.mit.edu 37 6 143605338 143605338 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:143605338C>T uc003qjh.2 + 4 531 c.491C>T c.(490-492)ACC>ATC p.T164I AIG1_uc003qjf.2_Missense_Mutation_p.T154I|AIG1_uc003qji.2_Missense_Mutation_p.T102I NM_016108 NP_057192 Q9NVV5 AIG1_HUMAN androgen-induced 1 164 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246) GCCATATGTACCTTCTCTGTT 0.433 NA 4 31 0 0 0 0 SUN1 23353 broad.mit.edu 37 7 883126 883126 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:883126G>A uc011jvp.1 + 6 706 c.627G>A c.(625-627)TCG>TCA p.S209S SUN1_uc010ksa.1_Silent_p.S230S|SUN1_uc003sje.1_Silent_p.S209S|SUN1_uc003sjf.2_Silent_p.S159S|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Silent_p.S20S NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 209 SYNE2-binding.|Nuclear. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 GGCCCGTGTCGAGAGTTTATT 0.522 NA 47 144 0 0 0 0 RAC1 5879 broad.mit.edu 37 7 6426860 6426860 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:6426860G>A uc003spx.2 + 2 294 c.53G>A c.(52-54)TGC>TAC p.C18Y RAC1_uc003spw.2_Missense_Mutation_p.C18Y NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 18 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) GGTAAAACTTGCCTACTGATC 0.338 NA 17 41 0 0 0 0 DFNA5 1687 broad.mit.edu 37 7 24756873 24756873 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:24756873C>T uc010kus.1 - 5 785 c.697G>A c.(697-699)GAG>AAG p.E233K DFNA5_uc003swz.2_Missense_Mutation_p.E69K|DFNA5_uc003sxa.1_Missense_Mutation_p.E233K|DFNA5_uc010kut.1_Missense_Mutation_p.E69K|DFNA5_uc003sxb.2_Missense_Mutation_p.G233S NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 233 sensory perception of sound ovary(1) 1 TGGCACTCACCGAACTGGCCG 0.562 NA 10 35 0 0 0 0 PKD1L1 168507 broad.mit.edu 37 7 47944031 47944031 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:47944031G>T uc003tny.1 - 12 1875 c.1875C>A c.(1873-1875)GAC>GAA p.D625E NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 625 Extracellular (Potential).|PKD 2. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CATCCCCAAAGTCCCACAGGT 0.602 NA 13 25 2.27e-07 2.5e-07 1 0 ZNF479 90827 broad.mit.edu 37 7 57188354 57188354 + Silent SNP A A G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:57188354A>G uc010kzo.2 - 5 1039 c.768T>C c.(766-768)CTT>CTC p.L256L NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 256 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TATGTCTAGTAAGGTTTGCAG 0.428 NA 6 32 0 0 0 0 HIP1 3092 broad.mit.edu 37 7 75192259 75192259 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:75192259C>T uc003uds.1 - 11 1041 c.1000G>A c.(1000-1002)GAC>AAC p.D334N HIP1_uc011kfz.1_Missense_Mutation_p.D211N NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 334 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 GCATCCATGTCCATGAGGTCA 0.592 NA T PDGFRB CMML 4 27 0 0 0 0 PLXNA4 91584 broad.mit.edu 37 7 131849918 131849918 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:131849918G>A uc003vra.3 - 23 4557 c.4328C>T c.(4327-4329)ACT>ATT p.T1443I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1443 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GAGGAGGAAAGTAAACCAATT 0.517 NA 19 47 0 0 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389491 150389491 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:150389491G>A uc003who.2 + 3 205 c.117G>A c.(115-117)GGG>GGA p.G39G GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 39 integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGCTGCAGGGAACAGCATCC 0.512 NA 7 23 0 0 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626408 1626408 + Missense_Mutation SNP G G A rs34274599 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:1626408G>A uc003wpl.2 + 9 2174 c.2077G>A c.(2077-2079)GTC>ATC p.V693I DLGAP2_uc003wpm.2_Missense_Mutation_p.V679I NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 772 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TTCTAACAGCGTCACGGCCGC 0.557 NA 18 36 0 0 0 0 CHD7 55636 broad.mit.edu 37 8 61765577 61765577 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:61765577G>A uc003xue.2 + 31 6770 c.6293G>A c.(6292-6294)CGA>CAA p.R2098Q NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2098 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CGGCATGACCGAGACTTGCTG 0.542 NA 13 26 0 0 0 0 KCNB2 9312 broad.mit.edu 37 8 73480224 73480224 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:73480224C>T uc003xzb.2 + 2 843 c.255C>T c.(253-255)AAC>AAT p.N85N NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 85 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TGAACGAGAACGAGTATTTCT 0.512 NA 17 47 0 0 0 0 RAD54B 25788 broad.mit.edu 37 8 95419835 95419835 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:95419835C>T uc003ygk.2 - 5 711 c.613G>A c.(613-615)GGC>AGC p.G205S RAD54B_uc010may.1_Missense_Mutation_p.G12S|RAD54B_uc003ygl.1_RNA NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) AAACACCTGCCACTGCTGAAG 0.418 NA Direct_reversal_of_damage|Homologous_recombination 5 44 0 0 0 0 PGCP 10404 broad.mit.edu 37 8 97892096 97892096 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:97892096G>A uc003yhw.2 + 4 878 c.712G>A c.(712-714)GAT>AAT p.D238N PGCP_uc010mbe.2_Missense_Mutation_p.D238N NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 238 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) TACGGTGGAAGATGCAGAAAT 0.463 NA 5 134 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110412468 110412468 + Silent SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:110412468T>C uc003yne.2 + 13 1280 c.1176T>C c.(1174-1176)TTT>TTC p.F392F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 392 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGCACGCTTTAGTGGATTTT 0.418 NA HNSCC(38;0.096) 23 228 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110535536 110535536 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:110535536C>T uc003yne.2 + 76 12509 c.12405C>T c.(12403-12405)GTC>GTT p.V4135V NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 4135 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATAACCAAGTCAATGGCCTTA 0.398 NA HNSCC(38;0.096) 18 48 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113353856 113353856 + Nonsense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:113353856G>A uc003ynu.2 - 42 6661 c.6502C>T c.(6502-6504)CGA>TGA p.R2168* CSMD3_uc003yns.2_Nonsense_Mutation_p.R1370*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.R2128*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.R2064* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2168 Extracellular (Potential).|CUB 12. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GATCCACTTCGTACTTCCAAA 0.368 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 18 0 0 0 0 EIF3H 8667 broad.mit.edu 37 8 117658786 117658786 + Silent SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:117658786C>A uc003yoa.2 - 7 911 c.885G>T c.(883-885)CCG>CCT p.P295P EIF3H_uc003yob.2_Silent_p.P309P NM_003756 NP_003747 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, 295 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(3) 3 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) CCTCAGGGAGCGGGGGTTCTC 0.527 NA 44 131 2.48e-24 2.87e-24 1 0 PLEC 5339 broad.mit.edu 37 8 144991068 144991068 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:144991068C>T uc003zaf.1 - 32 13502 c.13332G>A c.(13330-13332)ACG>ACA p.T4444T PLEC_uc003zab.1_Silent_p.T4307T|PLEC_uc003zac.1_Silent_p.T4311T|PLEC_uc003zad.2_Silent_p.T4307T|PLEC_uc003zae.1_Silent_p.T4275T|PLEC_uc003zag.1_Silent_p.T4285T|PLEC_uc003zah.2_Silent_p.T4293T|PLEC_uc003zaj.2_Silent_p.T4334T NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4444 Globular 2.|Plectin 29. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCGCTGCCCCGTGATGTTAT 0.677 NA 3 47 0 0 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18574122 18574122 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:18574122T>C uc003zne.3 + 4 459 c.332T>C c.(331-333)GTG>GCG p.V111A ADAMTSL1_uc003znb.2_Missense_Mutation_p.V111A|ADAMTSL1_uc003znc.3_Missense_Mutation_p.V111A NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 111 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TGGCTTCCTGTGTCTAATGAC 0.498 NA 41 108 0 0 0 0 VCP 7415 broad.mit.edu 37 9 35059087 35059087 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:35059087C>T uc003zvy.2 - 15 2523 c.2134G>A c.(2134-2136)GAG>AAG p.E712K VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.E381K|VCP_uc010mki.1_Missense_Mutation_p.E667K NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 712 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GTCTGCCTCTCTCGTTCTCGC 0.552 NA 21 54 0 0 0 0 FBXO10 26267 broad.mit.edu 37 9 37518327 37518327 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:37518327C>T uc004aab.2 - 9 2358 c.2309G>A c.(2308-2310)CGA>CAA p.R770Q FBXO10_uc004aac.2_Missense_Mutation_p.R786Q|FBXO10_uc004aad.2_Missense_Mutation_p.R320Q NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 770 PbH1 15. ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) GTTGGCCACTCGGGTGGGTTG 0.567 NA 14 26 0 0 0 0 DCAF10 79269 broad.mit.edu 37 9 37854962 37854962 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:37854962G>A uc004aao.2 + 4 1111 c.1037G>A c.(1036-1038)AGA>AAA p.R346K DCAF10_uc010mlz.2_Missense_Mutation_p.R173K|DCAF10_uc004aap.2_Missense_Mutation_p.R34K NM_024345 NP_077321 Q5QP82 DCA10_HUMAN WD repeat domain 32 346 CUL4 RING ubiquitin ligase complex central_nervous_system(1) 1 AGAGCAAGAAGAACTACTTCA 0.338 NA 19 60 0 0 0 0 GDA 9615 broad.mit.edu 37 9 74838108 74838108 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:74838108G>A uc004aiq.2 + 7 862 c.679G>A c.(679-681)GGC>AGC p.G227S GDA_uc011lse.1_Missense_Mutation_p.G153S|GDA_uc011lsf.1_Missense_Mutation_p.G153S|GDA_uc004air.2_Missense_Mutation_p.G227S|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Intron|GDA_uc004ait.1_Missense_Mutation_p.G153S NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 227 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GGGTGAACTGGGCAACATTGC 0.418 NA 15 63 0 0 0 0 TRPM6 140803 broad.mit.edu 37 9 77370340 77370340 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:77370340G>A uc004ajl.1 - 28 5073 c.4835C>T c.(4834-4836)CCA>CTA p.P1612L TRPM6_uc004ajk.1_Missense_Mutation_p.P1607L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.P563L|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.P568L NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1612 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GTTTTCTCCTGGCTCTGGATT 0.423 NA 26 66 0 0 0 0 OR13C4 138804 broad.mit.edu 37 9 107288587 107288587 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:107288587C>G uc011lvn.1 - 1 904 c.904G>C c.(904-906)GAT>CAT p.D302H NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GCTTTTACATCTTTATTTCTC 0.378 NA 5 70 0 0 0 0 OR13C9 286362 broad.mit.edu 37 9 107380043 107380043 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:107380043G>T uc011lvr.1 - 1 443 c.443C>A c.(442-444)TCC>TAC p.S148Y NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCAAACCAGGACCCAACAGC 0.448 NA 14 103 9.05e-12 1.03e-11 1 0 SVEP1 79987 broad.mit.edu 37 9 113139598 113139598 + Missense_Mutation SNP T T A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:113139598T>A uc010mtz.2 - 45 10794 c.10457A>T c.(10456-10458)AAT>ATT p.N3486I SVEP1_uc010mty.2_Missense_Mutation_p.N1412I NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3486 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GGAACAAGCATTTGGGCGTTG 0.502 NA 18 42 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113170974 113170974 + Nonsense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:113170974C>T uc010mtz.2 - 38 7243 c.6906G>A c.(6904-6906)TGG>TGA p.W2302* SVEP1_uc010mty.2_Nonsense_Mutation_p.W228* NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2302 Sushi 15. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TCTGACATGTCCAAGAACTGT 0.443 NA 17 59 0 0 0 0 ZNF883 169834 broad.mit.edu 37 9 115760171 115760171 + Missense_Mutation SNP T T G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:115760171T>G uc011lwy.1 - 5 1608 c.369A>C c.(367-369)AAA>AAC p.K123N NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGGATAGGGTTTTTCTCCAG 0.378 NA 3 45 0 0 0 0 POLA1 5422 broad.mit.edu 37 X 24722565 24722565 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:24722565G>A uc004dbl.2 + 4 330 c.307G>A c.(307-309)GCC>ACC p.A103T POLA1_uc004dbm.2_Missense_Mutation_p.A109T|POLA1_uc004dbn.2_5'UTR NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 103 Asp-rich. cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) TGAAGATGATGCCCTTGATGC 0.368 NA 8 216 0 0 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254629 30254629 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:30254629G>T uc004dca.1 + 5 1325 c.588G>T c.(586-588)AGG>AGT p.R196S NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 196 MAGE. 0 CTCGTGGGAGGGGATTTCCCA 0.468 NA 12 35 6.4e-05 6.84e-05 1 0 FAM47A 158724 broad.mit.edu 37 X 34149053 34149053 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:34149053C>T uc004ddg.2 - 1 1376 c.1343G>A c.(1342-1344)CGG>CAG p.R448Q NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 448 ovary(4)|central_nervous_system(1) 5 TTTCTTCACCCGGGCCTCACA 0.562 NA 7 59 0 0 0 0 USP9X 8239 broad.mit.edu 37 X 41075168 41075168 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:41075168G>A uc004dfb.2 + 35 5981 c.5348G>A c.(5347-5349)CGC>CAC p.R1783H USP9X_uc004dfc.2_Missense_Mutation_p.R1783H NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1783 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 ACCGTAAAGCGCTTGCTGATT 0.318 NA 4 46 0 0 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49127007 49127007 + Silent SNP T T A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:49127007T>A uc004dnh.1 + 1 691 c.675T>A c.(673-675)GGT>GGA p.G225G PPP1R3F_uc011mnd.1_Intron|PPP1R3F_uc004dni.2_Intron NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 225 CBM21.|Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) TCGGCCTGGGTCCCGGCCAGG 0.751 NA 7 13 0 0 0 0 IQSEC2 23096 broad.mit.edu 37 X 53279948 53279948 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:53279948C>T uc004dsd.2 - 5 2011 c.1810G>A c.(1810-1812)GTG>ATG p.V604M IQSEC2_uc004dsc.2_Missense_Mutation_p.V399M NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 594 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 CTCAGGTCCACGGAGCTGTCA 0.657 NA 7 11 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53577938 53577938 + Silent SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:53577938C>A uc004dsp.2 - 65 9711 c.9309G>T c.(9307-9309)CGG>CGT p.R3103R HUWE1_uc004dsn.2_Silent_p.R1911R NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3103 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GCTGTCGCTGCCGGGCTTCTT 0.582 NA 12 41 1.09e-07 1.21e-07 1 0 ARL13A 392509 broad.mit.edu 37 X 100240718 100240718 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:100240718T>C uc004ego.2 + 4 309 c.193T>C c.(193-195)TAT>CAT p.Y65H ARL13A_uc011mrf.1_Missense_Mutation_p.Y65H|ARL13A_uc010nng.2_Missense_Mutation_p.Y65H NM_001012990 NP_001013008 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13 isoform a 65 GTP binding ovary(1) 1 GTTAGATGAGTATGAACTTTC 0.463 NA 3 47 0 0 0 0 NKAP 79576 broad.mit.edu 37 X 119059238 119059238 + Missense_Mutation SNP A A G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:119059238A>G uc004esh.2 - 9 1360 c.1193T>C c.(1192-1194)CTG>CCG p.L398P NKAP_uc004esg.2_Missense_Mutation_p.L285P NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 398 Necessary for interaction with HDAC3 and transcriptional repression. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 AAAACTGGCCAGAATCTTGTT 0.398 NA 29 82 0 0 0 0 STAG2 10735 broad.mit.edu 37 X 123196817 123196817 + Silent SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:123196817C>A uc004etz.3 + 17 2043 c.1704C>A c.(1702-1704)GCC>GCA p.A568A STAG2_uc004eua.2_Silent_p.A568A|STAG2_uc004eub.2_Silent_p.A568A|STAG2_uc004euc.2_Silent_p.A568A|STAG2_uc004eud.2_Silent_p.A568A|STAG2_uc004eue.2_Silent_p.A568A NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 568 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 AGCTTTTTGCCGTGGCCCTTC 0.358 NA 16 44 1.68e-08 1.87e-08 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130217855 130217855 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:130217855G>A uc004evz.2 + 4 812 c.467G>A c.(466-468)CGA>CAA p.R156Q ARHGAP36_uc004ewa.2_Missense_Mutation_p.R144Q|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R125Q|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R20Q NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 156 Arg-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 AACGTGGTGCGAAGGGTGTTT 0.617 NA 27 53 0 0 0 0 MMGT1 93380 broad.mit.edu 37 X 135047295 135047295 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:135047295T>C uc004ezi.1 - 4 584 c.284A>G c.(283-285)CAT>CGT p.H95R MMGT1_uc011mvw.1_Missense_Mutation_p.H160R NM_173470 NP_775741 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 precursor 95 Cytoplasmic (Potential). early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane magnesium ion transmembrane transporter activity 0 TCGACCACGATGATTAAATAC 0.353 NA 42 100 0 0 0 0 MAP7D3 79649 broad.mit.edu 37 X 135313731 135313731 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:135313731G>A uc004ezt.2 - 8 1476 c.1385C>T c.(1384-1386)CCC>CTC p.P462L MAP7D3_uc004ezs.2_Missense_Mutation_p.P426L|MAP7D3_uc011mwc.1_Missense_Mutation_p.P444L|MAP7D3_uc010nsa.1_Missense_Mutation_p.P420L NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 462 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) TTTTGCCTTGGGAGATGCTTC 0.448 NA 34 90 0 0 0 0 FGF13 2258 broad.mit.edu 37 X 137715119 137715119 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:137715119G>A uc004fam.2 - 5 1292 c.630C>T c.(628-630)CAC>CAT p.H210H FGF13_uc004fan.2_Silent_p.H157H|FGF13_uc011mwi.1_Silent_p.H191H|FGF13_uc004faq.2_Silent_p.H220H|FGF13_uc004far.2_Silent_p.H191H|FGF13_uc011mwj.1_Silent_p.H220H|FGF13_uc011mwk.1_Silent_p.H164H NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 210 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CCGTGAGATCGTGCAGTGATG 0.463 NA 7 72 0 0 0 0 KRT5 3852 broad.mit.edu 37 12 52913978 52913979 + Frame_Shift_Ins INS - - GG TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:52913978_52913979insGG uc001san.2 - 1 265_266 c.102_103insCC c.(100-105)TCCGTGfs p.S34fs KRT5_uc009zmh.2_Frame_Shift_Ins_p.S34fs NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 34_35 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) GACCGGGACACGGAGGTGAAGC 0.663 NA 31 51 --- --- --- --- NA NA NA NA CTCF 10664 broad.mit.edu 37 16 67663349 67663361 + Frame_Shift_Del DEL GAGGGGGAAAATG GAGGGGGAAAATG - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:67663349_67663361delGAGGGGGAAAATG uc002etl.2 + 10 2040_2052 c.1750_1762delGAGGGGGAAAATG c.(1750-1764)GAGGGGGAAAATGGAfs p.E584fs CTCF_uc010cek.2_Frame_Shift_Del_p.E256fs|CTCF_uc002etm.1_Frame_Shift_Del_p.E73fs NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 584_588 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AGATGGCGTAGAGGGGGAAAATGGAGGAGAAAC 0.413 NA 12 53 --- --- --- --- NA NA NA NA GPS2 2874 broad.mit.edu 37 17 7216126 7216127 + Frame_Shift_Ins INS - - GG TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:7216126_7216127insGG uc002gfv.1 - 10 1195_1196 c.932_933insCC c.(931-933)CCTfs p.P311fs GPS2_uc002gfw.1_Frame_Shift_Ins_p.P273fs|GPS2_uc002gfx.1_Frame_Shift_Ins_p.P311fs|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Frame_Shift_Ins_p.P311fs NM_004489 NP_004480 Q13227 GPS2_HUMAN G protein pathway suppressor 2 311 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity ovary(2)|pancreas(1) 3 Prostate(122;0.157) AGGGGAGCCGAGGGCCAGGTTG 0.545 NA 27 137 --- --- --- --- NA NA NA NA ZBTB32 27033 broad.mit.edu 37 19 36206144 36206148 + Frame_Shift_Del DEL GATGG GATGG - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:36206144_36206148delGATGG uc002oay.2 + 2 826_830 c.616_620delGATGG c.(616-621)GATGGGfs p.D206fs ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 206_207 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGGGGAGCAGATGGGAAGCATGGA 0.615 NA 9 41 --- --- --- --- NA NA NA NA OXTR 5021 broad.mit.edu 37 3 8809643 8809645 + In_Frame_Del DEL GAA GAA - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:8809643_8809645delGAA uc003brc.2 - 3 851_853 c.229_231delTTC c.(229-231)TTCdel p.F77del NM_000916 NP_000907 P30559 OXYR_HUMAN oxytocin receptor 77 Helical; Name=2; (Potential). female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity 0 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GGTGCTTCATGAAGAAGAAGAGG 0.635 NA 5 8 --- --- --- --- NA NA NA NA TIGD4 201798 broad.mit.edu 37 4 153691769 153691770 + Frame_Shift_Ins INS - - A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:153691769_153691770insA uc003imy.2 - 2 1169_1170 c.387_388insT c.(385-390)AGTAATfs p.S129fs NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 129_130 HTH CENPB-type.|H-T-H motif (By similarity). regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) AGCCAACCATTACTGCACTTAA 0.416 NA 17 47 --- --- --- --- NA NA NA NA JMY 133746 broad.mit.edu 37 5 78611869 78611869 + Frame_Shift_Del DEL T T - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:78611869delT uc003kfx.3 + 10 3226 c.2706delT c.(2704-2706)AGTfs p.S902fs NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 902 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) AGCGTGGTAGTTTTCATCTGA 0.393 NA 23 81 --- --- --- --- NA NA NA NA C6orf62 81688 broad.mit.edu 37 6 24709057 24709059 + In_Frame_Del DEL ACA ACA - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:24709057_24709059delACA uc003nel.2 - 4 1017_1019 c.510_512delTGT c.(508-513)GTTGTC>GTC p.170_171VV>V NM_030939 NP_112201 Q9GZU0 CF062_HUMAN hypothetical protein LOC81688 170_171 intracellular 0 AGGATTGTTGACAACGATTCCAG 0.384 NA 19 92 --- --- --- --- NA NA NA NA MLL3 58508 broad.mit.edu 37 7 151859299 151859300 + Frame_Shift_Ins INS - - AAGAT TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:151859299_151859300insAAGAT uc003wla.2 - 43 11581_11582 c.11362_11363insATCTT c.(11362-11364)TCTfs p.S3788fs MLL3_uc003wkz.2_Frame_Shift_Ins_p.S2849fs|MLL3_uc003wky.2_Frame_Shift_Ins_p.S1297fs NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3788 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATTCAAAAGAGAAGATGACTTT 0.436 NA N medulloblastoma 7 33 --- --- --- --- NA NA NA NA