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 filter SPEN 23013 broad.mit.edu 37 1 16256690 16256690 + Nonsense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:16256690C>T uc001axk.1 + 11 4159 c.3955C>T c.(3955-3957)CAG>TAG p.Q1319* SPEN_uc010obp.1_Nonsense_Mutation_p.Q1278* NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1319 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CAGGAGAGAACAGATGGCAGA 0.383 11 40 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22166424 22166424 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:22166424C>T uc001bfj.2 - 72 9640 c.9600G>A c.(9598-9600)GTG>GTA p.V3200V HSPG2_uc009vqd.2_Silent_p.V3201V NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3200 Ig-like C2-type 17. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGTCCACGATCACCTCCACCT 0.582 34 64 --- --- --- --- PASS TCEB3 6924 broad.mit.edu 37 1 24083468 24083468 + Nonsense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:24083468G>T uc001bho.2 + 10 2248 c.2188G>T c.(2188-2190)GGA>TGA p.G730* NM_003198 NP_003189 Q14241 ELOA1_HUMAN elongin A 730 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GTACCCCATGGGAAGCAGCCA 0.587 5 107 --- --- --- --- PASS TMEM54 113452 broad.mit.edu 37 1 33363913 33363913 + Silent SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:33363913C>G uc001bwi.1 - 2 138 c.24G>C c.(22-24)CTG>CTC p.L8L TMEM54_uc001bwj.1_Silent_p.L8L|TMEM54_uc001bwk.1_Silent_p.L8L NM_033504 NP_277039 Q969K7 TMM54_HUMAN transmembrane protein 54 8 integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CGCCCACACTCAGGCCTCCTG 0.617 6 27 --- --- --- --- PASS EPHA10 284656 broad.mit.edu 37 1 38197177 38197177 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:38197177G>A uc009vvi.2 - 7 1655 c.1569C>T c.(1567-1569)ACC>ACT p.T523T EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 523 Fibronectin type-III 2.|Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGACGTAGCGGGTAGCCGGCT 0.587 26 46 --- --- --- --- PASS PPT1 5538 broad.mit.edu 37 1 40555127 40555127 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:40555127C>T uc001cfb.2 - 5 723 c.491G>A c.(490-492)CGA>CAA p.R164Q PPT1_uc010ojf.1_Missense_Mutation_p.R114Q|PPT1_uc010ojg.1_Missense_Mutation_p.R61Q|PPT1_uc009vwa.2_RNA NM_000310 NP_000301 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 isoform 1 164 brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity ovary(1) 1 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGTGTTTTTCGGATGAAGTC 0.403 5 65 --- --- --- --- PASS BEND5 79656 broad.mit.edu 37 1 49224681 49224681 + Silent SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:49224681T>C uc001crx.3 - 3 680 c.636A>G c.(634-636)GTA>GTG p.V212V AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.V43V NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN BEN domain containing 5 212 Potential. skin(1) 1 TGGCCTGTTGTACCAGCTGCC 0.612 19 31 --- --- --- --- PASS OMA1 115209 broad.mit.edu 37 1 58999665 58999665 + Missense_Mutation SNP A C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:58999665A>C uc001cyy.2 - 5 1059 c.971T>G c.(970-972)CTT>CGT p.L324R DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.L324R|OMA1_uc009vzz.2_Missense_Mutation_p.L324R NM_145243 NP_660286 Q96E52 OMA1_HUMAN OMA1 homolog, zinc metallopeptidase precursor 324 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity large_intestine(1) 1 all_cancers(7;6.54e-05) ATGGCCCAGAAGGAAAGAAAG 0.343 5 97 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74648474 74648474 + Silent SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:74648474A>G uc001dfy.3 - 3 513 c.321T>C c.(319-321)AAT>AAC p.N107N LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 107 LRR 3. ovary(2) 2 TTGCAAACCCATTGTCATGAA 0.308 5 28 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94577027 94577027 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:94577027G>C uc001dqh.2 - 3 373 c.269C>G c.(268-270)TCT>TGT p.S90C ABCA4_uc010otn.1_Missense_Mutation_p.S90C NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 90 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) AATTCCAGGAGATTCTCCTGG 0.517 3 16 --- --- --- --- PASS UBQLN4 56893 broad.mit.edu 37 1 156020106 156020106 + Silent SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:156020106G>C uc001fna.2 - 4 741 c.717C>G c.(715-717)CTC>CTG p.L239L UBQLN4_uc010pgx.1_Silent_p.L219L NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN ataxin-1 ubiquitin-like interacting protein 239 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding pancreas(1)|skin(1) 2 Hepatocellular(266;0.133)|all_neural(408;0.195) CAGGGTTATTGAGCATGTGGC 0.547 13 58 --- --- --- --- PASS MNDA 4332 broad.mit.edu 37 1 158813151 158813151 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:158813151C>A uc001fsz.1 + 3 548 c.348C>A c.(346-348)CCC>CCA p.P116P NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 116 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) CACCTGCACCCACCGCAAGAA 0.438 9 22 --- --- --- --- PASS SLAMF8 56833 broad.mit.edu 37 1 159799840 159799840 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:159799840C>T uc001fue.3 + 2 435 c.225C>T c.(223-225)CGC>CGT p.R75R NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN SLAM family member 8 precursor 75 Extracellular (Potential). integral to membrane 0 all_hematologic(112;0.0597) ACCATTCCCGCTTCCTGGGCC 0.602 31 83 --- --- --- --- PASS NCSTN 23385 broad.mit.edu 37 1 160325486 160325486 + Missense_Mutation SNP T G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:160325486T>G uc001fvx.2 + 12 1518 c.1394T>G c.(1393-1395)GTG>GGG p.V465G NCSTN_uc001fvy.2_Missense_Mutation_p.V445G|NCSTN_uc010pjf.1_Missense_Mutation_p.V327G|NCSTN_uc001fvz.2_Missense_Mutation_p.V245G|NCSTN_uc010pjg.1_Missense_Mutation_p.V207G NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 465 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AACATTAATGTGAGCTATCCC 0.537 16 76 --- --- --- --- PASS SERPINC1 462 broad.mit.edu 37 1 173880967 173880967 + Silent SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:173880967A>G uc001gjt.2 - 3 713 c.594T>C c.(592-594)TAT>TAC p.Y198Y NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 198 Y -> C (in AT3D; type-I and -II; Whitechapel).|Y -> H (in AT3D; type-I). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GCTTGGCTCCATATACCAACT 0.488 11 84 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175360549 175360549 + Missense_Mutation SNP T G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:175360549T>G uc001gkp.1 - 5 1463 c.1382A>C c.(1381-1383)CAG>CCG p.Q461P TNR_uc009wwu.1_Missense_Mutation_p.Q461P NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 461 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GCTGGGGACCTGAGCAATCAC 0.502 3 27 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176738877 176738877 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:176738877G>A uc001gkz.2 + 16 5622 c.4458G>A c.(4456-4458)CTG>CTA p.L1486L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1486 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCAAATTTCTGAAACGCTGCT 0.527 31 83 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177250597 177250597 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:177250597C>A uc001glf.2 + 8 2597 c.2285C>A c.(2284-2286)TCC>TAC p.S762Y FAM5B_uc001glg.2_Missense_Mutation_p.S657Y NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 762 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 ATCCAGTCCTCCCTGAGGGCT 0.557 18 63 --- --- --- --- PASS NPHS2 7827 broad.mit.edu 37 1 179526328 179526328 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:179526328G>T uc001gmq.3 - 5 657 c.572C>A c.(571-573)GCC>GAC p.A191D NPHS2_uc009wxi.2_Intron NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 191 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 GTAGCAAATGGCATCTATCTC 0.428 8 32 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179604999 179604999 + Silent SNP C A A rs147568109 byFrequency TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:179604999C>A uc001gnf.1 + 9 1747 c.1497C>A c.(1495-1497)CTC>CTA p.L499L TDRD5_uc010pnp.1_Silent_p.L499L|TDRD5_uc001gnh.1_Silent_p.L54L NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 499 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 CAGAGTTACTCGAAGACATGA 0.343 4 55 --- --- --- --- PASS QSOX1 5768 broad.mit.edu 37 1 180163472 180163472 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:180163472C>T uc001gnz.2 + 11 1488 c.1413C>T c.(1411-1413)AAC>AAT p.N471N QSOX1_uc001gny.2_Silent_p.N471N|QSOX1_uc001goa.2_Silent_p.N471N|QSOX1_uc001goc.2_Silent_p.N13N NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 471 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 GGAGTCCCAACGCCGCTGTCC 0.622 6 30 --- --- --- --- PASS RNASEL 6041 broad.mit.edu 37 1 182544528 182544528 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:182544528C>T uc001gpj.1 - 6 2392 c.2225G>A c.(2224-2226)TGA>TAA p.*742* RNASEL_uc009wxz.1_Silent_p.*742* NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 742 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 ATCAGTCCATCAGCACCCAGG 0.393 Hereditary_Prostate_Cancer 14 65 --- --- --- --- PASS RGS16 6004 broad.mit.edu 37 1 182572472 182572472 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:182572472G>A uc001gpl.3 - 2 201 c.47C>T c.(46-48)GCC>GTC p.A16V RGS16_uc010pnv.1_Missense_Mutation_p.A16V NM_002928 NP_002919 O15492 RGS16_HUMAN regulator of G-protein signalling 16 16 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(1) 1 GAACTCTTTGGCTCTGAAAAA 0.502 12 60 --- --- --- --- PASS RGL1 23179 broad.mit.edu 37 1 183857654 183857654 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:183857654C>T uc001gqo.2 + 8 1155 c.998C>T c.(997-999)TCG>TTG p.S333L RGL1_uc010pof.1_Missense_Mutation_p.S138L|RGL1_uc001gqm.2_Missense_Mutation_p.S368L|RGL1_uc010pog.1_Missense_Mutation_p.S331L|RGL1_uc010poh.1_Missense_Mutation_p.S331L|RGL1_uc010poi.1_Missense_Mutation_p.S333L NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 333 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 GCCATCGTTTCGGCACTGCAG 0.428 20 106 --- --- --- --- PASS RGS21 431704 broad.mit.edu 37 1 192335237 192335237 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:192335237T>C uc001gsh.2 + 5 616 c.442T>C c.(442-444)TGG>CGG p.W148R NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 148 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|skin(1) 2 TCATAAAAAATGGCTCCCTTT 0.333 16 24 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197404369 197404369 + Missense_Mutation SNP C A A rs149390998 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:197404369C>A uc001gtz.2 + 9 3511 c.3376C>A c.(3376-3378)CTC>ATC p.L1126I CRB1_uc010poz.1_Missense_Mutation_p.L1102I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.L1014I|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.L607I|CRB1_uc001gub.1_Missense_Mutation_p.L775I NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1126 Extracellular (Potential).|Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.L1126F(1) ovary(5)|skin(3)|large_intestine(1) 9 AGAGCAATTTCTCAAAATCTC 0.398 26 46 --- --- --- --- PASS CDK18 5129 broad.mit.edu 37 1 205495521 205495521 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:205495521G>T uc001hcr.2 + 7 907 c.688G>T c.(688-690)GCC>TCC p.A230S CDK18_uc010pri.1_Missense_Mutation_p.R220L|CDK18_uc001hcp.2_Missense_Mutation_p.A200S|CDK18_uc001hcq.2_Missense_Mutation_p.A200S|CDK18_uc010prj.1_Missense_Mutation_p.A111S|CDK18_uc001hcs.2_Missense_Mutation_p.A111S|CDK18_uc009xbm.1_Missense_Mutation_p.A111S|CDK18_uc001hct.2_5'Flank NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 198 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity stomach(2) 2 CCTGAAGCACGCCAATATTGT 0.587 7 55 --- --- --- --- PASS IL10 3586 broad.mit.edu 37 1 206944254 206944254 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:206944254A>G uc001hen.1 - 3 435 c.376T>C c.(376-378)TGT>CGT p.C126R NM_000572 NP_000563 P22301 IL10_HUMAN interleukin 10 precursor 126 anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response extracellular space cytokine activity|growth factor activity|interleukin-10 receptor binding 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) CTACTTACACAGCGCCGTAGC 0.547 8 66 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207649608 207649608 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:207649608A>G uc001hfw.2 + 14 2663 c.2569A>G c.(2569-2571)ACC>GCC p.T857A CR2_uc001hfv.2_Missense_Mutation_p.T916A|CR2_uc009xch.2_Intron NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 857 Sushi 14.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TCCGCCTAAGACCCCTAACGG 0.507 23 45 --- --- --- --- PASS FAM71A 149647 broad.mit.edu 37 1 212799258 212799258 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:212799258G>C uc001hjk.2 + 1 1443 c.1039G>C c.(1039-1041)GCT>CCT p.A347P uc010pth.1_RNA NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 347 Ala-rich. skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TGTGGCAGGGGCTGCAGGCAA 0.607 7 15 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222833078 222833078 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:222833078C>A uc001hnl.2 + 22 4818 c.4809C>A c.(4807-4809)CTC>CTA p.L1603L MIA3_uc001hnm.2_Silent_p.L481L NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1603 Cytoplasmic (Potential).|Potential. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) TTCAATAGCTCAAAGCTCGTG 0.383 22 36 --- --- --- --- PASS PARP1 142 broad.mit.edu 37 1 226550831 226550831 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:226550831G>A uc001hqd.3 - 21 2988 c.2817C>T c.(2815-2817)AGC>AGT p.S939S NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 939 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TGGGTAACTTGCTGATATGTG 0.502 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 12 65 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229577773 229577773 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:229577773C>T uc001htn.2 - 26 3441 c.3349G>A c.(3349-3351)GAG>AAG p.E1117K NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1117 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GGTAAGTACTCACTGAGCTGA 0.363 12 104 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229599292 229599292 + Nonsense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:229599292G>A uc001htn.2 - 19 2775 c.2683C>T c.(2683-2685)CAG>TAG p.Q895* NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 895 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CTCATCACCTGATCAGCAAAC 0.443 5 57 --- --- --- --- PASS PCNXL2 80003 broad.mit.edu 37 1 233161104 233161104 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:233161104C>A uc001hvl.2 - 26 4628 c.4393G>T c.(4393-4395)GGC>TGC p.G1465C PCNXL2_uc001hvk.1_Missense_Mutation_p.G117C|PCNXL2_uc001hvm.1_Intron NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1465 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TCCTCGTCGCCCTCCATGATG 0.572 OREG0014326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 33 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247419658 247419658 + Silent SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:247419658C>G uc010pyu.1 + 2 285 c.285C>G c.(283-285)CTC>CTG p.L95L NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 95 Helical; Name=3; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) TACTGCTGCTCTTCACCCAGG 0.398 6 115 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247420096 247420096 + Nonsense_Mutation SNP T A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:247420096T>A uc010pyu.1 + 2 723 c.723T>A c.(721-723)TAT>TAA p.Y241* NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 241 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) ATGGTGATTATTTTATACAGA 0.473 33 69 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247769158 247769158 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:247769158A>G uc010pyz.1 + 1 271 c.271A>G c.(271-273)ACG>GCG p.T91A NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ACCAAAGAAGACGATCACTTA 0.468 55 120 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248113057 248113057 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:248113057C>A uc001idt.1 + 1 898 c.898C>A c.(898-900)CTG>ATG p.L300M OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GATGGGGGCCCTGACACGAGT 0.488 16 27 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248344097 248344097 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:248344097G>A uc010pzf.1 + 1 810 c.810G>A c.(808-810)CAG>CAA p.Q270Q NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCCCAACGCAGGACAAGATGG 0.502 33 140 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525076 248525076 + Missense_Mutation SNP T G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr1:248525076T>G uc001ieh.1 + 1 194 c.194T>G c.(193-195)GTG>GGG p.V65G NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 65 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTCATTTTTGTGGTTTTCCTG 0.478 7 150 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11767139 11767139 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:11767139C>T uc002rbk.1 + 25 4658 c.4358C>T c.(4357-4359)GCA>GTA p.A1453V GREB1_uc002rbp.1_Missense_Mutation_p.A451V NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1453 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CGTCAGACGGCACGGATGAGA 0.572 5 24 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39294858 39294858 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:39294858C>G uc002rrk.3 - 2 165 c.124G>C c.(124-126)GAT>CAT p.D42H SOS1_uc010ynr.1_RNA NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 42 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) AGAGCATCATCATTAGACTCG 0.343 Noonan_syndrome 32 158 --- --- --- --- PASS PEX13 5194 broad.mit.edu 37 2 61258651 61258651 + Nonsense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:61258651G>T uc002sau.3 + 2 273 c.190G>T c.(190-192)GGA>TGA p.G64* NM_002618 NP_002609 Q92968 PEX13_HUMAN peroxisomal biogenesis factor 13 64 Lumenal (Potential). cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior integral to peroxisomal membrane|membrane fraction protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114) ACAGCAGACAGGAAGTAGCAG 0.438 5 79 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61415429 61415429 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:61415429C>G uc002sbe.2 - 80 10471 c.10449G>C c.(10447-10449)TTG>TTC p.L3483F USP34_uc002sbd.2_Missense_Mutation_p.L285F NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3483 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CACAGCTTCTCAAGTCAGCTA 0.478 30 61 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89384782 89384782 + RNA SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:89384782G>T uc010ytr.1 - 50 c.5358C>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. GAACCTGGCTGGGATACCAGT 0.527 42 48 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89384783 89384783 + RNA SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:89384783G>C uc010ytr.1 - 50 c.5357C>G uc002stl.2_Intron Parts of antibodies, mostly variable regions. AACCTGGCTGGGATACCAGTG 0.532 42 48 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90260185 90260185 + RNA SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:90260185C>G uc010fhm.2 + 30 c.4168C>G Parts of antibodies, mostly variable regions. TCACTCTCACCATCAGTTGCC 0.488 37 180 --- --- --- --- PASS TSGA10 80705 broad.mit.edu 37 2 99634803 99634803 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:99634803G>A uc002szg.3 - 18 2560 c.1932C>T c.(1930-1932)GCC>GCT p.A644A TSGA10_uc002szh.3_Silent_p.A644A|TSGA10_uc002szi.3_Silent_p.A644A|TSGA10_uc010fin.1_Silent_p.A644A NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 644 Interaction with HIF1A (By similarity). spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 GTTCTTGTACGGCCCTCTCCC 0.333 12 49 --- --- --- --- PASS GCC2 9648 broad.mit.edu 37 2 109086257 109086257 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:109086257G>A uc002tec.2 + 6 626 c.472G>A c.(472-474)GAA>AAA p.E158K GCC2_uc002ted.2_Missense_Mutation_p.E57K NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 158 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 GCAGCTGGAAGAAGCAATGAA 0.303 48 87 --- --- --- --- PASS TUBA3E 112714 broad.mit.edu 37 2 130951676 130951676 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:130951676C>T uc002tqv.2 - 4 840 c.739G>A c.(739-741)GCC>ACC p.A247T NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 247 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) ACATTCAGGGCCCCATCAAAT 0.592 36 126 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159535159 159535159 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:159535159G>A uc002tzv.2 + 21 3583 c.3323G>A c.(3322-3324)CGG>CAG p.R1108Q PKP4_uc002tzw.2_Missense_Mutation_p.R1065Q|PKP4_uc002tzx.2_Missense_Mutation_p.R765Q|PKP4_uc002uaa.2_Missense_Mutation_p.R917Q|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.R289Q|PKP4_uc002uad.2_RNA NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 1108 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 CAAAATAGACGGCTACAGGTG 0.398 HNSCC(62;0.18) 8 20 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166901684 166901684 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:166901684C>T uc010zcz.1 - 10 1549 c.1531G>A c.(1531-1533)GGT>AGT p.G511S SCN1A_uc002udo.3_Missense_Mutation_p.G380S|SCN1A_uc010fpk.2_Missense_Mutation_p.G380S NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 511 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTTCCCCACCAGACTGCTCT 0.448 32 71 --- --- --- --- PASS DLX1 1745 broad.mit.edu 37 2 172951530 172951530 + Silent SNP T G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:172951530T>G uc002uhl.2 + 2 660 c.462T>G c.(460-462)GCT>GCG p.A154A DLX1_uc010fqj.1_Silent_p.A154A|DLX1_uc002uhm.2_Intron NM_178120 NP_835221 P56177 DLX1_HUMAN distal-less homeobox 1 isoform 1 154 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) AGTACCTAGCTCTGCCGGAGA 0.582 35 95 --- --- --- --- PASS ATP5G3 518 broad.mit.edu 37 2 176043809 176043809 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:176043809C>A uc002ujz.3 - 3 560 c.290G>T c.(289-291)GGC>GTC p.G97V ATP5G3_uc002uka.3_Missense_Mutation_p.G97V|ATP5G3_uc002ukb.1_Missense_Mutation_p.G97V NM_001002258 NP_001002258 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial F0 97 Helical; (Potential). ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.147) GATAAGGCTGCCAAAGACTGT 0.413 10 47 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179596503 179596503 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:179596503A>G uc010zfg.1 - 55 13591 c.13367T>C c.(13366-13368)GTA>GCA p.V4456A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1117A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5383 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) ATCTGCAGCTACAAACTTGAG 0.478 17 115 --- --- --- --- PASS ZNF385B 151126 broad.mit.edu 37 2 180634369 180634369 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:180634369C>T uc002unn.3 - 3 718 c.114G>A c.(112-114)GTG>GTA p.V38V NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 38 Matrin-type 1. nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GGATGTTGCACACCTCACAGA 0.507 15 36 --- --- --- --- PASS CERKL 375298 broad.mit.edu 37 2 182438605 182438605 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:182438605G>A uc002unx.2 - 3 589 c.488C>T c.(487-489)CCA>CTA p.P163L CERKL_uc002uny.2_Missense_Mutation_p.P163L|CERKL_uc010zfm.1_Intron|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Missense_Mutation_p.P163L|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Missense_Mutation_p.P163L NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 163 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGGTCTGTTTGGAAAGCCTAA 0.338 14 60 --- --- --- --- PASS FAM171B 165215 broad.mit.edu 37 2 187615909 187615909 + Missense_Mutation SNP T A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:187615909T>A uc002ups.2 + 5 885 c.773T>A c.(772-774)ATA>AAA p.I258K FAM171B_uc002upr.1_Missense_Mutation_p.I258K NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 258 Extracellular (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 TGTGTGAAAATATATTCTGGA 0.353 33 88 --- --- --- --- PASS IKZF2 22807 broad.mit.edu 37 2 213921675 213921675 + Silent SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:213921675G>C uc002vem.2 - 4 457 c.288C>G c.(286-288)GTC>GTG p.V96V IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Silent_p.V43V|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Silent_p.V96V|IKZF2_uc002vel.2_Silent_p.V43V|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_Intron|IKZF2_uc010fuy.2_Silent_p.V96V|IKZF2_uc002ven.2_Silent_p.V96V NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) GAAGCTCCTGGACTTTCCTGT 0.532 21 38 --- --- --- --- PASS PNKD 25953 broad.mit.edu 37 2 219204777 219204777 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:219204777C>A uc002vhn.2 + 4 522 c.378C>A c.(376-378)GTC>GTA p.V126V PNKD_uc002vhq.2_Silent_p.V102V NM_015488 NP_056303 Q8N490 PNKD_HUMAN myofibrillogenesis regulator 1 isoform 1 126 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCATCCCTGTCCTCTCGGACA 0.647 4 37 --- --- --- --- PASS C2orf24 27013 broad.mit.edu 37 2 220039778 220039778 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:220039778G>A uc002vju.3 - 4 465 c.313C>T c.(313-315)CGG>TGG p.R105W C2orf24_uc002vjv.2_Missense_Mutation_p.R105W NM_015680 NP_056495 Q9BV87 CNPD1_HUMAN hypothetical protein LOC27013 105 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding 0 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCCGGAGCCGTTCAATGTAC 0.527 29 52 --- --- --- --- PASS KIAA1486 57624 broad.mit.edu 37 2 226516205 226516205 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:226516205C>T uc002voe.2 + 6 2061 c.1886C>T c.(1885-1887)CCA>CTA p.P629L KIAA1486_uc010fxa.1_3'UTR|KIAA1486_uc002vof.1_Missense_Mutation_p.P399L NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 629 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) GTGCCTCCTCCATCAGTCACT 0.493 76 122 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228881839 228881839 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:228881839G>T uc002vpq.2 - 7 3778 c.3731C>A c.(3730-3732)TCC>TAC p.S1244Y SPHKAP_uc002vpp.2_Missense_Mutation_p.S1244Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1244Y NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1244 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGAGCATGGGGATCTGCTGTC 0.572 27 40 --- --- --- --- PASS GIGYF2 26058 broad.mit.edu 37 2 233704607 233704607 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr2:233704607C>G uc002vti.3 + 25 3152 c.2815C>G c.(2815-2817)CAG>GAG p.Q939E GIGYF2_uc002vtj.3_Missense_Mutation_p.Q960E|GIGYF2_uc002vtk.3_Missense_Mutation_p.Q939E|GIGYF2_uc002vth.3_Missense_Mutation_p.Q933E|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.Q770E|GIGYF2_uc002vtq.3_Missense_Mutation_p.Q272E NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 939 Gln-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) AACAGCATGTCAGTCCCAGGC 0.458 21 27 --- --- --- --- PASS RPL32 6161 broad.mit.edu 37 3 12880933 12880933 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:12880933T>C uc003bxl.2 - 2 406 c.193A>G c.(193-195)AAA>GAA p.K65E RPL32_uc003bxm.2_Missense_Mutation_p.K65E|RPL32_uc003bxn.2_Missense_Mutation_p.K65E NM_001007074 NP_001007075 P62910 RL32_HUMAN ribosomal protein L32 65 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome ovary(1) 1 TGCTTTGTTTTTTTGTTGCTT 0.507 7 214 --- --- --- --- PASS EFHB 151651 broad.mit.edu 37 3 19956850 19956850 + Silent SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:19956850T>C uc003cbl.3 - 5 1429 c.1233A>G c.(1231-1233)AAA>AAG p.K411K EFHB_uc003cbm.2_Silent_p.K281K NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 411 signal transduction proteinaceous extracellular matrix calcium ion binding 0 CATTTCCTTCTTTAAATACTT 0.363 4 14 --- --- --- --- PASS TGFBR2 7048 broad.mit.edu 37 3 30713559 30713559 + Nonsense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:30713559C>G uc003ceo.2 + 4 1266 c.884C>G c.(883-885)TCA>TGA p.S295* TGFBR2_uc003cen.2_Nonsense_Mutation_p.S320* NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 295 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 GACATCTTCTCAGACATCAAT 0.493 25 39 --- --- --- --- PASS XYLB 9942 broad.mit.edu 37 3 38406756 38406756 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:38406756C>T uc003cic.2 + 5 467 c.358C>T c.(358-360)CGG>TGG p.R120W XYLB_uc011ayp.1_5'UTR|XYLB_uc003cid.1_Missense_Mutation_p.R42W NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 120 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) ACCAGACCTCCGGCTACACCA 0.542 12 36 --- --- --- --- PASS MST1R 4486 broad.mit.edu 37 3 49928037 49928037 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:49928037G>A uc003cxy.3 - 18 3955 c.3691C>T c.(3691-3693)CGC>TGC p.R1231C MST1R_uc011bdc.1_Missense_Mutation_p.R110C NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1231 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) AGGATGTCGCGGGCCAAACCA 0.557 13 16 --- --- --- --- PASS RBM6 10180 broad.mit.edu 37 3 50114516 50114516 + Nonsense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:50114516C>T uc003cyc.2 + 21 3455 c.3322C>T c.(3322-3324)CGA>TGA p.R1108* RBM6_uc003cyd.2_Nonsense_Mutation_p.R586*|RBM6_uc003cye.2_Nonsense_Mutation_p.R586*|RBM6_uc011bdi.1_Nonsense_Mutation_p.R450*|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 1108 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) CGAGACTTACCGAGATGCTGT 0.458 8 21 --- --- --- --- PASS PRKCD 5580 broad.mit.edu 37 3 53212538 53212538 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:53212538G>C uc003dgl.2 + 3 453 c.100G>C c.(100-102)GAG>CAG p.E34Q PRKCD_uc003dgm.2_Missense_Mutation_p.E34Q|PRKCD_uc003dgn.2_Missense_Mutation_p.E34Q NM_006254 NP_006245 Q05655 KPCD_HUMAN protein kinase C, delta 34 C2. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GAAGATGAAGGAGGCGCTCAG 0.657 11 8 --- --- --- --- PASS PDZRN3 23024 broad.mit.edu 37 3 73433611 73433611 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:73433611G>A uc003dpl.1 - 10 2202 c.2106C>T c.(2104-2106)ATC>ATT p.I702I PDZRN3_uc011bgh.1_Silent_p.I359I|PDZRN3_uc010hoe.1_Silent_p.I400I|PDZRN3_uc011bgf.1_Silent_p.I419I|PDZRN3_uc011bgg.1_Silent_p.I422I NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 702 Potential. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GGGCGCGCACGATGCTCAGGC 0.627 7 15 --- --- --- --- PASS GPR128 84873 broad.mit.edu 37 3 100362185 100362185 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:100362185G>A uc003duc.2 + 7 1042 c.774G>A c.(772-774)CAG>CAA p.Q258Q GPR128_uc011bhc.1_Intron NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 258 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TAGCAATACAGTCAGCAAATT 0.388 22 91 --- --- --- --- PASS CD200 4345 broad.mit.edu 37 3 112066467 112066467 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:112066467G>T uc003dyw.2 + 5 703 c.559G>T c.(559-561)GCC>TCC p.A187S CD200_uc010hqd.1_Missense_Mutation_p.A46S|CD200_uc003dyx.2_Missense_Mutation_p.A162S|CD200_uc003dyy.2_Missense_Mutation_p.A46S|CD200_uc003dyz.2_Missense_Mutation_p.A88S NM_001004196 NP_001004196 P41217 OX2G_HUMAN CD200 antigen isoform b 162 Ig-like C2-type.|Extracellular (Potential). regulation of immune response integral to plasma membrane 0 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) CACTTGCTCTGCCACTGCCCG 0.468 31 83 --- --- --- --- PASS C3orf17 25871 broad.mit.edu 37 3 112724646 112724646 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:112724646T>C uc003dzr.2 - 9 1502 c.1441A>G c.(1441-1443)ACA>GCA p.T481A GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.T106A|C3orf17_uc011bhz.1_Missense_Mutation_p.T106A|C3orf17_uc010hqh.2_Missense_Mutation_p.T106A|C3orf17_uc003dzt.2_Missense_Mutation_p.T384A|C3orf17_uc003dzs.2_Missense_Mutation_p.T345A|C3orf17_uc010hqg.2_Missense_Mutation_p.T306A|C3orf17_uc011bia.1_Missense_Mutation_p.T278A|C3orf17_uc003dzu.2_Missense_Mutation_p.T410A|C3orf17_uc011bib.1_Missense_Mutation_p.T370A|C3orf17_uc011bic.1_Missense_Mutation_p.T314A|C3orf17_uc011bid.1_RNA NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 481 integral to membrane 0 CTGGTATCTGTAGCACTCTTC 0.433 17 33 --- --- --- --- PASS ZNF80 7634 broad.mit.edu 37 3 113955426 113955426 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:113955426A>G uc010hqo.2 - 1 1000 c.496T>C c.(496-498)TGT>CGT p.C166R ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 166 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) GTTTTTCCACATTCTTTGCAC 0.483 14 63 --- --- --- --- PASS TOPBP1 11073 broad.mit.edu 37 3 133337159 133337159 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:133337159G>C uc003eps.2 - 21 3622 c.3490C>G c.(3490-3492)CCT>GCT p.P1164A TOPBP1_uc003ept.1_Missense_Mutation_p.P168A NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1164 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 GGACAACTAGGCCACTGCAAA 0.443 Other_conserved_DNA_damage_response_genes 29 76 --- --- --- --- PASS AADACL2 344752 broad.mit.edu 37 3 151451952 151451952 + Silent SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:151451952T>C uc003ezc.2 + 1 249 c.129T>C c.(127-129)TGT>TGC p.C43C AADACL2_uc010hvn.2_5'UTR NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 43 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CTAAAACTTGTACATTTACGG 0.333 7 29 --- --- --- --- PASS MIR15B 406949 broad.mit.edu 37 3 160122461 160122461 + RNA SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:160122461T>C hsa-mir-15b|MI0000438 + c.86T>C IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_Intron|SMC4_uc003fdg.1_Intron|SMC4_uc010hwc.1_Intron|SMC4_uc003fdh.2_Intron|SMC4_uc003fdi.2_Intron|SMC4_uc003fdj.2_Intron|SMC4_uc010hwd.2_Intron|uc011boz.1_RNA|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank 0 TCTAGAAATTTAAGGAAATTC 0.353 5 29 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179529630 179529630 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:179529630C>T uc003fki.1 - 11 1243 c.1113G>A c.(1111-1113)GCG>GCA p.A371A PEX5L_uc011bqd.1_Silent_p.A328A|PEX5L_uc011bqe.1_Silent_p.A179A|PEX5L_uc011bqf.1_Silent_p.A263A|PEX5L_uc003fkj.1_Silent_p.A336A|PEX5L_uc010hxd.1_Silent_p.A369A|PEX5L_uc011bqg.1_Silent_p.A347A|PEX5L_uc011bqh.1_Silent_p.A312A NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 371 TPR 1. protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TTTCATTCTCCGCCTGGGTTA 0.448 60 74 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5642280 5642280 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:5642280C>A uc003gij.2 - 10 1485 c.1431G>T c.(1429-1431)ATG>ATT p.M477I EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.M397I NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 477 Potential. integral to membrane large_intestine(3)|ovary(2) 5 CTGCTTCCTCCATTGCCATCA 0.468 6 162 --- --- --- --- PASS ACOX3 8310 broad.mit.edu 37 4 8383231 8383231 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:8383231C>G uc010idk.2 - 14 1786 c.1641G>C c.(1639-1641)AGG>AGC p.R547S ACOX3_uc003glc.3_Missense_Mutation_p.R547S|ACOX3_uc003gld.3_Missense_Mutation_p.R547S|ACOX3_uc003gle.1_Missense_Mutation_p.R452S NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 547 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 GGCATTTGTTCCTTGCTTCAA 0.368 24 56 --- --- --- --- PASS CLRN2 645104 broad.mit.edu 37 4 17528651 17528651 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:17528651G>C uc003gpg.1 + 3 747 c.645G>C c.(643-645)GAG>GAC p.E215D NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN clarin 2 215 integral to membrane 0 CCCTCCCTGAGATTAAGACCA 0.502 30 63 --- --- --- --- PASS MED28 80306 broad.mit.edu 37 4 17616413 17616413 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:17616413G>C uc003gpi.1 + 1 148 c.136G>C c.(136-138)GAC>CAC p.D46H MED28_uc003gpj.2_RNA NM_025205 NP_079481 Q9H204 MED28_HUMAN mediator complex subunit 28 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding 0 TACTTTGGTGGACGAGTTGGA 0.582 27 60 --- --- --- --- PASS STIM2 57620 broad.mit.edu 37 4 26921165 26921165 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:26921165A>G uc003gsh.3 + 2 668 c.452A>G c.(451-453)GAA>GGA p.E151G STIM2_uc003gsg.3_Missense_Mutation_p.E151G|STIM2_uc010iex.2_Missense_Mutation_p.E151G NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 64 Extracellular (Potential). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) TTTACAGAAGAAGACAGATTT 0.393 24 53 --- --- --- --- PASS ATP8A1 10396 broad.mit.edu 37 4 42618096 42618096 + Splice_Site SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:42618096C>T uc003gwr.2 - 5 596 c.364_splice c.e5-1 p.K122_splice ATP8A1_uc003gws.2_Splice_Site_p.K122_splice|ATP8A1_uc011byz.1_Splice_Site_p.K122_splice NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TATGTCGTTTCTAAAGTTTAA 0.303 6 27 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55981484 55981484 + Silent SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:55981484G>T uc003has.2 - 4 755 c.453C>A c.(451-453)CTC>CTA p.L151L KDR_uc003hat.1_Silent_p.L151L|KDR_uc011bzx.1_Silent_p.L151L NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 151 Ig-like C2-type 2.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AAATGGACCCGAGACATGGAA 0.368 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 11 20 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55981485 55981485 + Missense_Mutation SNP A C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:55981485A>C uc003has.2 - 4 754 c.452T>G c.(451-453)CTC>CGC p.L151R KDR_uc003hat.1_Missense_Mutation_p.L151R|KDR_uc011bzx.1_Missense_Mutation_p.L151R NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 151 Ig-like C2-type 2.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AATGGACCCGAGACATGGAAT 0.368 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 11 20 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73154571 73154571 + Silent SNP G A A rs112565530 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:73154571G>A uc003hgk.1 - 21 2983 c.2946C>T c.(2944-2946)TGC>TGT p.C982C NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 982 TSP type-1 4. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTCCTTCACCGCAGGTCACTG 0.448 13 17 --- --- --- --- PASS LARP7 51574 broad.mit.edu 37 4 113568634 113568634 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:113568634G>T uc003iay.2 + 7 1204 c.926G>T c.(925-927)CGA>CTA p.R309L LARP7_uc003iaz.2_Missense_Mutation_p.R316L|LARP7_uc003iba.2_Missense_Mutation_p.R230L|LARP7_uc003ibb.2_Missense_Mutation_p.R309L NM_016648 NP_057732 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 309 Lys-rich. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding ovary(3) 3 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) CTAGCTCCCCGATCAAAAGTA 0.378 36 112 --- --- --- --- PASS ACCN5 51802 broad.mit.edu 37 4 156757901 156757901 + Missense_Mutation SNP G T T rs139903903 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:156757901G>T uc003ipe.1 - 8 1222 c.1175C>A c.(1174-1176)CCA>CAA p.P392Q NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN amiloride-sensitive cation channel 5, 392 Extracellular (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141) TTTTTGACTTGGAAAAGAGGA 0.338 4 43 --- --- --- --- PASS ETFDH 2110 broad.mit.edu 37 4 159620142 159620142 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:159620142G>A uc003iqb.2 + 9 1308 c.976G>A c.(976-978)GGT>AGT p.G326S ETFDH_uc011cjg.1_Missense_Mutation_p.G279S|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Missense_Mutation_p.G265S|ETFDH_uc010iqs.2_Missense_Mutation_p.G248S NM_004453 NP_004444 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 326 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding large_intestine(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) TTTTAAGGTTGGTCTAGACTA 0.328 13 31 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175897673 175897673 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:175897673C>A uc003iuc.2 + 5 1667 c.997C>A c.(997-999)CAT>AAT p.H333N ADAM29_uc003iud.2_Missense_Mutation_p.H333N|ADAM29_uc010irr.2_Missense_Mutation_p.H333N|ADAM29_uc011cki.1_Missense_Mutation_p.H333N NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 333 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AGTGGCTCATCATCTAGGTCA 0.398 30 70 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175898265 175898265 + Missense_Mutation SNP G C C rs148692882 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:175898265G>C uc003iuc.2 + 5 2259 c.1589G>C c.(1588-1590)CGT>CCT p.R530P ADAM29_uc003iud.2_Missense_Mutation_p.R530P|ADAM29_uc010irr.2_Missense_Mutation_p.R530P|ADAM29_uc011cki.1_Missense_Mutation_p.R530P NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 530 Cys-rich.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTAGGTGACCGTGTTGGTCAC 0.418 25 28 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187540391 187540391 + Nonsense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:187540391G>C uc003izf.2 - 10 7537 c.7349C>G c.(7348-7350)TCA>TGA p.S2450* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2450 Extracellular (Potential).|Cadherin 22. 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 GTGCAGGTTTGAGAGGGTGAT 0.433 HNSCC(5;0.00058) 34 112 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187540705 187540705 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr4:187540705G>A uc003izf.2 - 10 7223 c.7035C>T c.(7033-7035)CTC>CTT p.L2345L NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2345 Extracellular (Potential).|Cadherin 21. 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 CCAGGGTTCTGAGTAGTGAGA 0.493 HNSCC(5;0.00058) 31 81 --- --- --- --- PASS SLC12A7 10723 broad.mit.edu 37 5 1085507 1085507 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:1085507C>A uc003jbu.2 - 7 823 c.757G>T c.(757-759)GTG>TTG p.V253L NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 253 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GTGCCGTACACACGCATGTTG 0.647 3 5 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14297283 14297283 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:14297283G>C uc003jff.2 + 7 1285 c.1279G>C c.(1279-1281)GAG>CAG p.E427Q TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E378Q|TRIO_uc003jfh.1_Missense_Mutation_p.E76Q NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 427 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GAGTCAGCTGGAGCAGGAGTG 0.562 11 22 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14378141 14378141 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:14378141C>A uc003jff.2 + 20 3358 c.3352C>A c.(3352-3354)CAA>AAA p.Q1118K TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.Q1069K|TRIO_uc003jfh.1_Missense_Mutation_p.Q767K NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1118 Spectrin 4. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TGAACTCTTCCAACGGGAGAA 0.423 4 27 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24488226 24488226 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:24488226C>A uc003jgr.1 - 12 2245 c.1913G>T c.(1912-1914)CGA>CTA p.R638L CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 638 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R638Q(1) ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CTCTTTTTTTCGCTGTCTTTT 0.398 HNSCC(23;0.051) 23 39 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31429647 31429647 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:31429647C>T uc003jhg.2 - 26 3510 c.3151G>A c.(3151-3153)GTT>ATT p.V1051I RNASEN_uc003jhh.2_Missense_Mutation_p.V1014I|RNASEN_uc003jhi.2_Missense_Mutation_p.V1014I NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 1051 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TCCAAGTAAACAGCTCCTAGA 0.368 18 44 --- --- --- --- PASS RANBP3L 202151 broad.mit.edu 37 5 36257555 36257555 + Splice_Site SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:36257555C>T uc003jkh.2 - 9 1265 c.772_splice c.e9+1 p.R258_splice RANBP3L_uc011cow.1_Splice_Site_p.R283_splice NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) AGAATTCTTACTTGAACTTAA 0.254 6 23 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41181632 41181632 + Silent SNP T A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:41181632T>A uc003jmk.2 - 7 966 c.756A>T c.(754-756)ACA>ACT p.T252T C6_uc003jml.1_Silent_p.T252T NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 252 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGTAGAAATCTGTTTTCAAGT 0.348 15 37 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41181633 41181633 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:41181633G>C uc003jmk.2 - 7 965 c.755C>G c.(754-756)ACA>AGA p.T252R C6_uc003jml.1_Missense_Mutation_p.T252R NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 252 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GTAGAAATCTGTTTTCAAGTC 0.348 15 38 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262388 45262388 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:45262388T>C uc003jok.2 - 8 2333 c.2308A>G c.(2308-2310)AGC>GGC p.S770G NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 770 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCCTGCGTGCTCTTGTGCACT 0.488 9 33 --- --- --- --- PASS ALDH7A1 501 broad.mit.edu 37 5 125896775 125896775 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:125896775C>A uc003ktx.2 - 10 1105 c.913G>T c.(913-915)GCC>TCC p.A305S ALDH7A1_uc003ktv.2_5'UTR|ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.A332S NM_001182 NP_001173 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 305 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity kidney(2)|ovary(1) 3 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) GCAGCCTTACCAATAATGGCA 0.358 5 140 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 129001218 129001218 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:129001218G>T uc003kvb.1 + 16 2434 c.2434G>T c.(2434-2436)GCT>TCT p.A812S ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 812 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GGTGATACCTGCTGGAGCAAG 0.398 5 24 --- --- --- --- PASS FNIP1 96459 broad.mit.edu 37 5 131008511 131008511 + Silent SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:131008511A>G uc003kvs.1 - 14 1768 c.1626T>C c.(1624-1626)TTT>TTC p.F542F RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.F514F|FNIP1_uc010jdm.1_Silent_p.F497F NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 542 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) AGCATCTTATAAAATAAGTAA 0.413 15 25 --- --- --- --- PASS WNT8A 7478 broad.mit.edu 37 5 137420286 137420286 + Missense_Mutation SNP A T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:137420286A>T uc003lcd.1 + 3 207 c.202A>T c.(202-204)AAT>TAT p.N68Y BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.N86Y|WNT8A_uc011cyk.1_Missense_Mutation_p.N86Y NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 68 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTGCCCTGAAAATGCTCTTCA 0.532 14 31 --- --- --- --- PASS PCDHA2 56146 broad.mit.edu 37 5 140175262 140175262 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:140175262A>G uc003lhd.2 + 1 819 c.713A>G c.(712-714)AAT>AGT p.N238S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.N238S|PCDHA2_uc011czy.1_Missense_Mutation_p.N238S NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 238 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAAATGACAATGAACCAACT 0.398 10 51 --- --- --- --- PASS PCDHB4 56131 broad.mit.edu 37 5 140502911 140502911 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:140502911A>G uc003lip.1 + 1 1331 c.1331A>G c.(1330-1332)AAT>AGT p.N444S NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 444 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCGACGTCAATGACAACGCC 0.597 25 69 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140558610 140558610 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:140558610G>A uc011dai.1 + 1 1181 c.995G>A c.(994-996)TGC>TAC p.C332Y PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 332 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTGGAAAATGCACCGTTCTG 0.433 36 219 --- --- --- --- PASS PCDHGB2 56103 broad.mit.edu 37 5 140741324 140741324 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:140741324C>T uc003ljs.1 + 1 1622 c.1622C>T c.(1621-1623)GCG>GTG p.A541V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A541V|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 541 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCCGCGCTCAGCGCC 0.701 9 17 --- --- --- --- PASS KCTD16 57528 broad.mit.edu 37 5 143587013 143587013 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:143587013C>A uc003lnm.1 + 3 1365 c.736C>A c.(736-738)CAC>AAC p.H246N KCTD16_uc003lnn.1_Missense_Mutation_p.H246N NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 246 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GTGTGGATTCCACATGGTGGC 0.438 28 45 --- --- --- --- PASS ODZ2 57451 broad.mit.edu 37 5 167673804 167673804 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:167673804G>C uc010jjd.2 + 27 5833 c.5833G>C c.(5833-5835)GAG>CAG p.E1945Q ODZ2_uc003lzr.3_Missense_Mutation_p.E1715Q|ODZ2_uc003lzt.3_Missense_Mutation_p.E1318Q|ODZ2_uc010jje.2_Missense_Mutation_p.E1209Q NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GTATATATTTGAGTATGACTC 0.512 8 259 --- --- --- --- PASS ODZ2 57451 broad.mit.edu 37 5 167674284 167674284 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:167674284G>T uc010jjd.2 + 27 6313 c.6313G>T c.(6313-6315)GTT>TTT p.V2105F ODZ2_uc003lzr.3_Missense_Mutation_p.V1875F|ODZ2_uc003lzt.3_Missense_Mutation_p.V1478F|ODZ2_uc010jje.2_Missense_Mutation_p.V1369F NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TCCCCTCCCCGTTGACCTCTA 0.493 36 114 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170610401 170610401 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:170610401A>G uc003mba.2 + 18 2021 c.2005A>G c.(2005-2007)ACA>GCA p.T669A RANBP17_uc003mbb.2_5'UTR|RANBP17_uc003mbd.2_Missense_Mutation_p.T32A|RANBP17_uc010jjs.2_RNA|RANBP17_uc003mbc.2_Missense_Mutation_p.T32A NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 669 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AACCTTCTACACAGCGCTCAC 0.408 T TRD@ ALL 12 58 --- --- --- --- PASS BTNL9 153579 broad.mit.edu 37 5 180486679 180486679 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr5:180486679C>T uc003mmt.2 + 11 1656 c.1425C>T c.(1423-1425)CAC>CAT p.H475H NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 475 Cytoplasmic (Potential).|B30.2/SPRY. integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCACCTTCCACGACACCTTCT 0.672 6 9 --- --- --- --- PASS EXOC2 55770 broad.mit.edu 37 6 633008 633008 + Silent SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:633008G>T uc003mtd.2 - 3 362 c.228C>A c.(226-228)GTC>GTA p.V76V EXOC2_uc003mte.2_Silent_p.V76V|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 76 IPT/TIG. exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) ACTTAGTGGTGACAATAATGT 0.408 9 34 --- --- --- --- PASS ALDH5A1 7915 broad.mit.edu 37 6 24523060 24523060 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:24523060C>T uc003neg.2 + 7 1108 c.1080C>T c.(1078-1080)TTC>TTT p.F360F ALDH5A1_uc003nef.2_Silent_p.F373F NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 360 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) TAAAAGCATTCGCCGAGGCCA 0.448 9 95 --- --- --- --- PASS HIST1H2BD 3017 broad.mit.edu 37 6 26158772 26158772 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:26158772C>A uc003ngr.2 + 1 424 c.375C>A c.(373-375)TCC>TCA p.S125S HIST1H2BD_uc003ngs.2_Silent_p.S125S NM_021063 NP_066407 P58876 H2B1D_HUMAN histone cluster 1, H2bd 125 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|pancreas(1) 2 ACACCAGTTCCAAGTAACTTT 0.512 5 70 --- --- --- --- PASS ZNF391 346157 broad.mit.edu 37 6 27368656 27368656 + Silent SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:27368656A>G uc003njf.1 + 3 1025 c.507A>G c.(505-507)GAA>GAG p.E169E NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN zinc finger protein 391 169 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(2)|skin(1) 3 AATGCAATGAATGTGGAAAAG 0.383 18 81 --- --- --- --- PASS OR2B2 81697 broad.mit.edu 37 6 27879341 27879341 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:27879341C>A uc011dkw.1 - 1 757 c.757G>T c.(757-759)GGT>TGT p.G253C NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATAGCTGTACCATAAAAAAGT 0.463 5 73 --- --- --- --- PASS GPX6 257202 broad.mit.edu 37 6 28472214 28472214 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:28472214A>G uc011dlj.1 - 6 571 c.521T>C c.(520-522)ATG>ACG p.M174T GPX6_uc010jrg.1_RNA NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 174 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) ATGGACCTTCATGGGCTCCCA 0.498 6 34 --- --- --- --- PASS OR5V1 81696 broad.mit.edu 37 6 29323727 29323727 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:29323727C>T uc011dlo.1 - 1 328 c.246G>A c.(244-246)ATG>ATA p.M82I NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 GGAGGTGCACCATCATCTGGG 0.433 16 97 --- --- --- --- PASS TRIM39 56658 broad.mit.edu 37 6 30309968 30309968 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:30309968C>T uc010jrz.2 + 9 1801 c.1489C>T c.(1489-1491)CCA>TCA p.P497S TRIM39_uc003npz.2_Missense_Mutation_p.P467S|TRIM39_uc003nqb.2_Missense_Mutation_p.P467S|TRIM39_uc003nqc.2_Missense_Mutation_p.P467S|TRIM39_uc010jsa.1_Intron|RPP21_uc003nqd.1_5'Flank|RPP21_uc003nqe.1_5'Flank|RPP21_uc003nqf.1_5'Flank NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 497 B30.2/SPRY. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 CCTCTTCTACCCAGGCATCCG 0.527 14 40 --- --- --- --- PASS C6orf136 221545 broad.mit.edu 37 6 30619146 30619146 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:30619146G>A uc003nqw.3 + 4 860 c.667G>A c.(667-669)GAG>AAG p.E223K C6orf136_uc003nqx.3_Missense_Mutation_p.E404K|C6orf136_uc011dmn.1_Missense_Mutation_p.E89K NM_001109938 NP_001103408 Q5SQH8 CF136_HUMAN hypothetical protein LOC221545 isoform 1 223 0 CCGCCACCCTGAGAACTGGAC 0.552 60 170 --- --- --- --- PASS CCHCR1 54535 broad.mit.edu 37 6 31112669 31112669 + Nonsense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:31112669G>T uc003nsr.3 - 14 1914 c.1791C>A c.(1789-1791)TAC>TAA p.Y597* CCHCR1_uc011dne.1_Nonsense_Mutation_p.Y597*|CCHCR1_uc003nsq.3_Nonsense_Mutation_p.Y650*|CCHCR1_uc003nsp.3_Nonsense_Mutation_p.Y686*|CCHCR1_uc010jsk.1_Nonsense_Mutation_p.Y597* NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 597 Potential. cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 CACCTTGCCCGTAGAGTTCCT 0.627 4 98 --- --- --- --- PASS SKIV2L 6499 broad.mit.edu 37 6 31936487 31936487 + Nonsense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:31936487C>T uc003nyn.1 + 25 3483 c.3094C>T c.(3094-3096)CAG>TAG p.Q1032* SKIV2L_uc011dou.1_Nonsense_Mutation_p.Q874*|SKIV2L_uc011dov.1_Nonsense_Mutation_p.Q839*|STK19_uc003nyt.2_5'Flank NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 1032 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 GGAGCGAATGCAGATACAGAA 0.597 7 57 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32032739 32032739 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:32032739G>T uc003nzl.2 - 19 6902 c.6700C>A c.(6700-6702)CAG>AAG p.Q2234K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2306 Fibronectin type-III 15. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GCCTTGGGCTGCCCGTCCCCA 0.607 6 27 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32037522 32037522 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:32037522G>A uc003nzl.2 - 15 5597 c.5395C>T c.(5395-5397)CCT>TCT p.P1799S NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1881 Fibronectin type-III 11. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TGGCCCTCAGGGACTGTCCAG 0.637 10 21 --- --- --- --- PASS C6orf10 10665 broad.mit.edu 37 6 32260883 32260883 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:32260883C>A uc011dpy.1 - 12 1740 c.1567G>T c.(1567-1569)GGT>TGT p.G523C C6orf10_uc011dpx.1_Intron NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 523 Lys-rich. integral to membrane skin(1) 1 cctttgtcaccttttgtgttt 0.154 4 33 --- --- --- --- PASS KIAA0240 23506 broad.mit.edu 37 6 42797822 42797822 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:42797822C>A uc003osn.1 + 6 1902 c.1751C>A c.(1750-1752)TCT>TAT p.S584Y KIAA0240_uc003osm.1_Missense_Mutation_p.S584Y|KIAA0240_uc011duw.1_Missense_Mutation_p.S584Y|KIAA0240_uc003oso.1_Missense_Mutation_p.S584Y|KIAA0240_uc003osp.1_Missense_Mutation_p.S584Y NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 584 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GTCAGTGTGTCTCATCGTCTT 0.488 16 49 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43400305 43400305 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:43400305G>T uc003ouy.1 + 3 802 c.587G>T c.(586-588)CGA>CTA p.R196L ABCC10_uc003ouz.1_Missense_Mutation_p.R153L NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 196 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGGGGACCACGAGAACCCTGG 0.627 5 62 --- --- --- --- PASS GPR115 221393 broad.mit.edu 37 6 47682138 47682138 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:47682138C>A uc003oza.1 + 6 1415 c.1157C>A c.(1156-1158)TCT>TAT p.S386Y GPR115_uc003oyz.1_Missense_Mutation_p.S443Y|GPR115_uc003ozb.1_Missense_Mutation_p.S384Y NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 386 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 GTGGTGATGTCTTTTTCCATT 0.463 13 45 --- --- --- --- PASS CRISP1 167 broad.mit.edu 37 6 49803029 49803029 + Nonstop_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:49803029C>A uc003ozw.2 - 8 829 c.750G>T c.(748-750)TAG>TAT p.*250Y CRISP1_uc003ozx.2_3'UTR NM_001131 NP_001122 P54107 CRIS1_HUMAN acidic epididymal glycoprotein-like 1 isoform 1 250 fusion of sperm to egg plasma membrane extracellular space 0 Lung NSC(77;0.0358) TAACAAAGACCTATTTTATCT 0.393 6 124 --- --- --- --- PASS C6orf142 90523 broad.mit.edu 37 6 54095515 54095515 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:54095515G>T uc003pcg.3 + 11 1230 c.1117G>T c.(1117-1119)GTA>TTA p.V373L C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.V908L NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 373 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) CCACCAGGATGTAACAGTCCC 0.458 53 181 --- --- --- --- PASS BMP5 653 broad.mit.edu 37 6 55739374 55739374 + Nonsense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:55739374G>T uc003pcq.2 - 1 1002 c.290C>A c.(289-291)TCG>TAG p.S97* BMP5_uc011dxf.1_Nonsense_Mutation_p.S97* NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 97 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TGAGTACTCCGACTCTTCAGG 0.493 30 73 --- --- --- --- PASS ZNF451 26036 broad.mit.edu 37 6 57012894 57012894 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:57012894C>A uc003pdm.1 + 10 2235 c.2011C>A c.(2011-2013)CTT>ATT p.L671I ZNF451_uc003pdl.2_Missense_Mutation_p.L671I|ZNF451_uc003pdn.1_Missense_Mutation_p.L671I|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.L671I NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 671 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CTTCTGTGGGCTTTGTGATCT 0.368 10 53 --- --- --- --- PASS ZNF451 26036 broad.mit.edu 37 6 57012976 57012976 + Nonsense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:57012976C>G uc003pdm.1 + 10 2317 c.2093C>G c.(2092-2094)TCA>TGA p.S698* ZNF451_uc003pdl.2_Nonsense_Mutation_p.S698*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.S698*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.S698* NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 698 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GTATTTGTGTCAGAAAAAACT 0.353 5 31 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70847580 70847580 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:70847580G>A uc003pfc.1 + 19 1504 c.1387G>A c.(1387-1389)GAA>AAA p.E463K COL19A1_uc010kam.1_Missense_Mutation_p.E359K NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 463 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TTGAAAGGGTGAAACTGGACT 0.408 46 119 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76728524 76728524 + Missense_Mutation SNP C A A rs139136879 byFrequency TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:76728524C>A uc003pik.1 - 7 848 c.718G>T c.(718-720)GTC>TTC p.V240F NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 240 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ACCAGAGAGACGCTGAGCTCC 0.463 17 49 --- --- --- --- PASS DOPEY1 23033 broad.mit.edu 37 6 83839921 83839921 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:83839921G>C uc003pjs.1 + 17 2681 c.2421G>C c.(2419-2421)CAG>CAC p.Q807H DOPEY1_uc011dyy.1_Missense_Mutation_p.Q798H|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q798H NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 807 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TCAGTGTTCAGAGTGTTGCTA 0.493 14 37 --- --- --- --- PASS SNAP91 9892 broad.mit.edu 37 6 84417613 84417613 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:84417613C>A uc011dze.1 - 2 351 c.34G>T c.(34-36)GCC>TCC p.A12S SNAP91_uc003pkb.2_5'UTR|SNAP91_uc003pkc.2_Missense_Mutation_p.A12S|SNAP91_uc003pkd.2_Missense_Mutation_p.A12S|SNAP91_uc003pka.2_Missense_Mutation_p.A12S|SNAP91_uc011dzf.1_5'UTR NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 12 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TACTGAGCGGCGGCGATCCGA 0.562 9 26 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85472385 85472385 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:85472385G>A uc003pkl.1 - 2 374 c.374C>T c.(373-375)TCC>TTC p.S125F TBX18_uc010kbq.1_5'UTR NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 125 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CCGGGCCAGGGAGCGCGCCGG 0.701 7 26 --- --- --- --- PASS RRAGD 58528 broad.mit.edu 37 6 90097269 90097269 + Silent SNP C A A rs142842793 by1000genomes TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:90097269C>A uc003pnd.3 - 2 472 c.189G>T c.(187-189)CCG>CCT p.P63P RRAGD_uc010kcc.2_Intron NM_021244 NP_067067 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 63 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity ovary(2)|central_nervous_system(1) 3 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) GCAGGATTCTCGGCTTCACTT 0.463 73 224 --- --- --- --- PASS FUT9 10690 broad.mit.edu 37 6 96651208 96651208 + Missense_Mutation SNP T G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:96651208T>G uc003pop.3 + 3 518 c.177T>G c.(175-177)GAT>GAG p.D59E NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 59 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CCAAAACTGATTATTTTAATG 0.418 15 35 --- --- --- --- PASS MCHR2 84539 broad.mit.edu 37 6 100403844 100403844 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:100403844T>C uc003pqh.1 - 2 495 c.180A>G c.(178-180)ATA>ATG p.I60M MCHR2_uc003pqi.1_Missense_Mutation_p.I60M NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 60 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TTCCTTACCTTATTATAGTGA 0.403 4 24 --- --- --- --- PASS QRSL1 55278 broad.mit.edu 37 6 107103556 107103556 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:107103556A>G uc003prm.2 + 9 1225 c.1109A>G c.(1108-1110)AAT>AGT p.N370S NM_018292 NP_060762 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase 370 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) GAAGGGTTTAATGATGTGGTG 0.363 12 50 --- --- --- --- PASS PDSS2 57107 broad.mit.edu 37 6 107475972 107475972 + Nonsense_Mutation SNP T A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:107475972T>A uc003prt.2 - 8 1341 c.1051A>T c.(1051-1053)AGA>TGA p.R351* PDSS2_uc011eak.1_Nonsense_Mutation_p.R215*|PDSS2_uc011eal.1_Nonsense_Mutation_p.R249* NM_020381 NP_065114 Q86YH6 DLP1_HUMAN prenyl diphosphate synthase, subunit 2 351 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity ovary(2) 2 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) GCTTTGATTCTTTCTCGCAAC 0.453 6 36 --- --- --- --- PASS C6orf182 285753 broad.mit.edu 37 6 109484003 109484003 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:109484003G>T uc010kdk.2 + 13 1790 c.1213G>T c.(1213-1215)GGT>TGT p.G405C C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_Missense_Mutation_p.G405C|C6orf182_uc003psy.3_Missense_Mutation_p.G405C NM_001083535 NP_001077004 Q8IYX8 CE57L_HUMAN hypothetical protein LOC285753 405 microtubule|microtubule organizing center 0 all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11) BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233) TGAAGCTTCAGGTATTCAGCA 0.333 5 71 --- --- --- --- PASS CDK19 23097 broad.mit.edu 37 6 110953347 110953347 + Nonsense_Mutation SNP T A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:110953347T>A uc003puh.1 - 6 605 c.532A>T c.(532-534)AGA>TGA p.R178* CDK19_uc003pui.1_Nonsense_Mutation_p.R118*|CDK19_uc011eax.1_Nonsense_Mutation_p.R54* NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) 178 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 TTGAATAATCTGGCAAAACCC 0.284 11 27 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112496574 112496574 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:112496574C>A uc003pvu.2 - 11 1607 c.1298G>T c.(1297-1299)CGT>CTT p.R433L LAMA4_uc003pvv.2_Missense_Mutation_p.R426L|LAMA4_uc003pvt.2_Missense_Mutation_p.R426L NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 433 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AAATGGTTGACGGCTTCTAAT 0.488 14 82 --- --- --- --- PASS RSPO3 84870 broad.mit.edu 37 6 127517050 127517050 + Missense_Mutation SNP A C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:127517050A>C uc003qar.2 + 5 1007 c.717A>C c.(715-717)GAA>GAC p.E239D RSPO3_uc003qas.1_Missense_Mutation_p.E239D NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 239 extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) AAAGTCTGGAATCCAGCAAAG 0.299 9 58 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129785527 129785527 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:129785527C>G uc003qbn.2 + 49 7190 c.7085C>G c.(7084-7086)TCC>TGC p.S2362C LAMA2_uc003qbo.2_Missense_Mutation_p.S2362C NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2362 Laminin G-like 2. 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) CCCAACATCTCCACTGTCATG 0.463 22 94 --- --- --- --- PASS TCF21 6943 broad.mit.edu 37 6 134210701 134210701 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:134210701C>A uc003qei.3 + 1 442 c.166C>A c.(166-168)CTG>ATG p.L56M uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.L56M NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 56 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) CCGCGGCGGCCTGGGCAAGAG 0.632 4 25 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144769802 144769802 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:144769802C>T uc003qkt.2 + 16 2061 c.1969C>T c.(1969-1971)CGT>TGT p.R657C UTRN_uc010khq.1_Missense_Mutation_p.R657C NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 657 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GGAGACTGTTCGTGTAAGAGA 0.423 30 49 --- --- --- --- PASS CCR6 1235 broad.mit.edu 37 6 167549917 167549917 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:167549917G>T uc003qvl.2 + 13 2675 c.199G>T c.(199-201)GTG>TTG p.V67L CCR6_uc010kkm.2_Missense_Mutation_p.V67L|CCR6_uc003qvn.3_Missense_Mutation_p.V67L|CCR6_uc003qvm.3_Missense_Mutation_p.V67L NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 67 Helical; Name=1; (Potential). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) GAATATTCTGGTGGTGATCAC 0.478 26 52 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18631171 18631171 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:18631171C>A uc003suh.2 + 4 480 c.439C>A c.(439-441)CTT>ATT p.L147I HDAC9_uc003sue.2_Missense_Mutation_p.L147I|HDAC9_uc011jyd.1_Missense_Mutation_p.L147I|HDAC9_uc003sui.2_Missense_Mutation_p.L150I|HDAC9_uc003suj.2_Missense_Mutation_p.L150I|HDAC9_uc011jya.1_Missense_Mutation_p.L188I|HDAC9_uc003sua.1_Missense_Mutation_p.L169I|HDAC9_uc011jyb.1_Missense_Mutation_p.L147I|HDAC9_uc003sud.1_Missense_Mutation_p.L147I|HDAC9_uc011jyc.1_Missense_Mutation_p.L150I|HDAC9_uc003suf.1_Missense_Mutation_p.L178I|HDAC9_uc010kud.1_Missense_Mutation_p.L150I|HDAC9_uc011jye.1_Missense_Mutation_p.L119I|HDAC9_uc011jyf.1_Missense_Mutation_p.L116I|HDAC9_uc010kue.1_5'UTR NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 147 Interaction with MEF2 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) AAAGCAGAAGCTTCAAGAGTT 0.348 10 20 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38471795 38471795 + Silent SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:38471795T>C uc003tgu.2 - 13 1221 c.1152A>G c.(1150-1152)CTA>CTG p.L384L AMPH_uc003tgv.2_Silent_p.L384L|AMPH_uc003tgt.2_Silent_p.L137L|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 384 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 TTACCGTCCATAGGTCCCAGG 0.318 12 70 --- --- --- --- PASS URGCP 55665 broad.mit.edu 37 7 43916608 43916608 + Silent SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:43916608T>C uc003tiw.2 - 6 2511 c.2454A>G c.(2452-2454)GTA>GTG p.V818V URGCP_uc003tiu.2_Silent_p.V775V|URGCP_uc003tiv.2_Silent_p.V743V|URGCP_uc003tix.2_Silent_p.V809V|URGCP_uc003tiy.2_Silent_p.V775V|URGCP_uc003tiz.2_Silent_p.V775V|URGCP_uc011kbj.1_Silent_p.V775V NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 818 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 GGTTCTGGTATACAAACTGGT 0.522 11 44 --- --- --- --- PASS ZNF680 340252 broad.mit.edu 37 7 64004166 64004166 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:64004166T>C uc003tta.2 - 3 345 c.172A>G c.(172-174)AAG>GAG p.K58E ZNF680_uc010kzr.2_Intron|ZNF680_uc003ttb.2_Missense_Mutation_p.K58E NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 58 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) AGGTGAGGCTTAGAGACAGCA 0.403 28 60 --- --- --- --- PASS C7orf42 55069 broad.mit.edu 37 7 66410077 66410077 + Missense_Mutation SNP G A A rs56128303 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:66410077G>A uc003tvk.2 + 3 538 c.274G>A c.(274-276)GGG>AGG p.G92R C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Missense_Mutation_p.G92R NM_017994 NP_060464 Q9NWD8 CG042_HUMAN hypothetical protein LOC55069 92 integral to membrane ovary(1) 1 AATGACCAGCGGGCAGGCCCG 0.547 8 26 --- --- --- --- PASS ELN 2006 broad.mit.edu 37 7 73474756 73474756 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:73474756G>A uc003tzw.2 + 25 1781 c.1690G>A c.(1690-1692)GGC>AGC p.G564S RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.G558S|ELN_uc003tzz.2_Missense_Mutation_p.G477S|ELN_uc003tzo.2_Missense_Mutation_p.G510S|ELN_uc003tzp.2_Missense_Mutation_p.G469S|ELN_uc003tzq.2_Missense_Mutation_p.G422S|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Missense_Mutation_p.G539S|ELN_uc003tzt.2_Missense_Mutation_p.G563S|ELN_uc003tzu.2_Missense_Mutation_p.G544S|ELN_uc003tzv.2_Missense_Mutation_p.G529S|ELN_uc003tzx.2_Missense_Mutation_p.G548S|ELN_uc011kff.1_Missense_Mutation_p.G558S|ELN_uc003tzy.2_Missense_Mutation_p.G534S NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 587 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) AGTTGGTGTCGGCGTCCCTGG 0.627 T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 13 63 --- --- --- --- PASS PTPN12 5782 broad.mit.edu 37 7 77256840 77256840 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:77256840G>T uc003ugh.2 + 13 1935 c.1844G>T c.(1843-1845)GGT>GTT p.G615V PTPN12_uc011kgp.1_Missense_Mutation_p.G496V|PTPN12_uc011kgq.1_Missense_Mutation_p.G485V|PTPN12_uc010lds.2_Missense_Mutation_p.G347V NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 615 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 AACTCTGATGGTGCTGTGACC 0.413 18 80 --- --- --- --- PASS ANKIB1 54467 broad.mit.edu 37 7 92027804 92027804 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:92027804G>A uc003ulw.2 + 20 3187 c.2811G>A c.(2809-2811)CTG>CTA p.L937L ANKIB1_uc010lew.1_Silent_p.L206L NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 937 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTGACACCCTGAGCTCACACC 0.512 19 52 --- --- --- --- PASS CALCR 799 broad.mit.edu 37 7 93055874 93055874 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:93055874C>A uc003umv.1 - 15 1582 c.1321G>T c.(1321-1323)GCC>TCC p.A441S CALCR_uc011kia.1_Missense_Mutation_p.A221S|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A407S|CALCR_uc003umw.2_Missense_Mutation_p.A407S NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 423 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TTGAATTGGGCCCATTGGCGC 0.537 5 31 --- --- --- --- PASS SLC25A13 10165 broad.mit.edu 37 7 95822420 95822420 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:95822420C>A uc003uof.3 - 6 735 c.544G>T c.(544-546)GAC>TAC p.D182Y SLC25A13_uc003uog.3_Missense_Mutation_p.D182Y|SLC25A13_uc011kik.1_Missense_Mutation_p.D74Y NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 182 3.|EF-hand 4. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) TCTCGGAAGTCGATGGCTGTG 0.453 12 45 --- --- --- --- PASS PTCD1 26024 broad.mit.edu 37 7 99022669 99022669 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:99022669C>G uc003uqh.2 - 6 1617 c.1486G>C c.(1486-1488)GTG>CTG p.V496L PTCD1_uc011kiw.1_Missense_Mutation_p.V545L NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 496 ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GACTCCACCACCTCGGCCAGT 0.617 7 29 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100372950 100372950 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:100372950G>T uc003uwj.2 + 33 5945 c.5780G>T c.(5779-5781)GGT>GTT p.G1927V ZAN_uc003uwk.2_Missense_Mutation_p.G1927V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.G14V NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1927 Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GTCCTCCCAGGTGTGGGAGTG 0.567 4 17 --- --- --- --- PASS MYL10 93408 broad.mit.edu 37 7 101267539 101267539 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:101267539C>A uc003uyr.2 - 2 262 c.84G>T c.(82-84)CCG>CCT p.P28P NM_138403 NP_612412 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 28 mitochondrion calcium ion binding ovary(1)|breast(1) 2 GAGCTCTTCTCGGTGCCTGCG 0.602 4 41 --- --- --- --- PASS CPA4 51200 broad.mit.edu 37 7 129950677 129950677 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:129950677G>C uc003vpr.2 + 9 891 c.844G>C c.(844-846)GCC>CCC p.A282P CPA4_uc011kpd.1_Missense_Mutation_p.A249P|CPA4_uc011kpe.1_Missense_Mutation_p.A178P NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 preproprotein 282 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TGGACCCCACGCCAATTCGGA 0.493 16 71 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700338 136700338 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:136700338G>T uc003vtf.1 + 4 1349 c.726G>T c.(724-726)AAG>AAT p.K242N CHRM2_uc003vtg.1_Missense_Mutation_p.K242N|CHRM2_uc003vtj.1_Missense_Mutation_p.K242N|CHRM2_uc003vtk.1_Missense_Mutation_p.K242N|CHRM2_uc003vtl.1_Missense_Mutation_p.K242N|CHRM2_uc003vtm.1_Missense_Mutation_p.K242N|CHRM2_uc003vti.1_Missense_Mutation_p.K242N|CHRM2_uc003vto.1_Missense_Mutation_p.K242N|CHRM2_uc003vtn.1_Missense_Mutation_p.K242N|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 242 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GGATAGTGAAGCCAAACAATA 0.502 7 23 --- --- --- --- PASS UBN2 254048 broad.mit.edu 37 7 138978162 138978162 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:138978162C>T uc011kqr.1 + 16 3854 c.3854C>T c.(3853-3855)ACC>ATC p.T1285I NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 1285 ovary(1)|skin(1) 2 GGAGTGACAACCACCTCGGGA 0.517 14 52 --- --- --- --- PASS WEE2 494551 broad.mit.edu 37 7 141408804 141408804 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:141408804G>A uc003vwn.2 + 1 652 c.246G>A c.(244-246)AGG>AGA p.R82R FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 82 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) AGATTTTGAGGACTCCAGTGT 0.522 43 150 --- --- --- --- PASS PDIA4 9601 broad.mit.edu 37 7 148716232 148716232 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:148716232C>A uc003wff.2 - 3 609 c.327G>T c.(325-327)AAG>AAT p.K109N NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 109 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) GATCTTTATCCTTTAATATGT 0.448 5 66 --- --- --- --- PASS ABCF2 10061 broad.mit.edu 37 7 150921066 150921066 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:150921066C>G uc003wjp.2 - 4 613 c.502G>C c.(502-504)GAG>CAG p.E168Q ABCF2_uc003wjo.1_Missense_Mutation_p.E168Q NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 168 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATGGCCCGCTCTGTGTCGACT 0.592 8 56 --- --- --- --- PASS ABCF2 10061 broad.mit.edu 37 7 150921083 150921083 + Missense_Mutation SNP A T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:150921083A>T uc003wjp.2 - 4 596 c.485T>A c.(484-486)GTG>GAG p.V162E ABCF2_uc003wjo.1_Missense_Mutation_p.V162E NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 162 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GACTTCCATCACACAATGCAA 0.577 8 58 --- --- --- --- PASS HTR5A 3361 broad.mit.edu 37 7 154876035 154876035 + Silent SNP C G G rs140450324 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr7:154876035C>G uc003wlu.1 + 2 976 c.912C>G c.(910-912)ACC>ACG p.T304T NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 304 Extracellular (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TCTTTCTCACCGAGCTCATCA 0.587 20 73 --- --- --- --- PASS SGK223 157285 broad.mit.edu 37 8 8233763 8233763 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr8:8233763C>T uc003wsh.3 - 2 2156 c.2156G>A c.(2155-2157)CGG>CAG p.R719Q NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 719 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TGGTACTCACCGCGACTTTGG 0.552 9 28 --- --- --- --- PASS KIF13B 23303 broad.mit.edu 37 8 28989937 28989937 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr8:28989937C>T uc003xhh.3 - 23 2889 c.2830G>A c.(2830-2832)GAA>AAA p.E944K uc003xhi.1_Intron NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 944 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) AATGCTCCTTCGGAAAGATGC 0.413 13 22 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30702390 30702390 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr8:30702390C>G uc003xil.2 - 1 4144 c.4144G>C c.(4144-4146)GAG>CAG p.E1382Q NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1382 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTAGAAGCTCTTTTTCTCTA 0.398 17 37 --- --- --- --- PASS SOX17 64321 broad.mit.edu 37 8 55372456 55372456 + Silent SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr8:55372456T>C uc003xsb.3 + 2 1350 c.1146T>C c.(1144-1146)CAT>CAC p.H382H NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 382 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) ACCAGGGGCATGACTCCGGTG 0.612 5 20 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55541069 55541069 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr8:55541069G>C uc003xsd.1 + 4 4775 c.4627G>C c.(4627-4629)GAT>CAT p.D1543H RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1543 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTTTTGCTATGATTCTAAGCA 0.333 11 31 --- --- --- --- PASS YTHDF3 253943 broad.mit.edu 37 8 64099372 64099372 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr8:64099372C>T uc003xuy.2 + 5 1119 c.803C>T c.(802-804)CCT>CTT p.P268L YTHDF3_uc010lys.2_Missense_Mutation_p.P212L|YTHDF3_uc003xuz.2_Missense_Mutation_p.P212L|YTHDF3_uc003xva.2_Missense_Mutation_p.P212L|YTHDF3_uc011len.1_Missense_Mutation_p.P212L NM_152758 NP_689971 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 268 0 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) GTACCACCACCTCCTATAAAA 0.488 20 84 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77776502 77776502 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr8:77776502C>T uc003yav.2 + 11 10804 c.10417C>T c.(10417-10419)CTT>TTT p.L3473F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3469 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTATCCTCATCTTTCTTGCTT 0.483 HNSCC(33;0.089) 23 51 --- --- --- --- PASS CNBD1 168975 broad.mit.edu 37 8 88365862 88365862 + Splice_Site SNP A T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr8:88365862A>T uc003ydy.2 + 10 1201 c.1153_splice c.e10-2 p.K385_splice NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 ovary(3) 3 TTTTTTTAACAGAAAAGATCT 0.318 8 24 --- --- --- --- PASS SMARCA2 6595 broad.mit.edu 37 9 2116022 2116022 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:2116022C>T uc003zhc.2 + 25 3756 c.3657C>T c.(3655-3657)GCC>GCT p.A1219A SMARCA2_uc003zhd.2_Silent_p.A1219A|SMARCA2_uc010mha.2_Silent_p.A1152A NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1219 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TCCTGCAGGCCATCTTGGAGC 0.478 OREG0019074 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 30 --- --- --- --- PASS KIAA1432 57589 broad.mit.edu 37 9 5753220 5753220 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:5753220G>T uc003zji.2 + 12 1329 c.1236G>T c.(1234-1236)GAG>GAT p.E412D KIAA1432_uc003zjh.2_Missense_Mutation_p.E412D|KIAA1432_uc003zjl.3_Missense_Mutation_p.E412D|KIAA1432_uc003zjj.1_Intron NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 491 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCTATCTAGAGAGCAATTGGC 0.363 28 32 --- --- --- --- PASS C9orf85 138241 broad.mit.edu 37 9 74526683 74526683 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:74526683C>A uc004ain.2 + 1 261 c.33C>A c.(31-33)TCC>TCA p.S11S C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank NM_182505 NP_872311 Q96MD7 CI085_HUMAN hypothetical protein LOC138241 11 0 TGGCTCGTTCCAGACCTCAGA 0.507 6 202 --- --- --- --- PASS SHC3 53358 broad.mit.edu 37 9 91661806 91661806 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:91661806G>A uc004aqg.2 - 8 1373 c.1066C>T c.(1066-1068)CTT>TTT p.L356F NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 356 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 CTAGTATCAAGAAAGCCCCCT 0.488 17 60 --- --- --- --- PASS SPTLC1 10558 broad.mit.edu 37 9 94812283 94812283 + Nonsense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:94812283C>A uc004arl.1 - 9 885 c.847G>T c.(847-849)GGA>TGA p.G283* SPTLC1_uc011ltv.1_Nonsense_Mutation_p.G283* NM_006415 NP_006406 O15269 SPTC1_HUMAN serine palmitoyltransferase subunit 1 isoform a 283 Cytoplasmic (Potential). integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups ovary(1)|breast(1) 2 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CCATGCTCTCCTAGGACTCCA 0.368 5 113 --- --- --- --- PASS ZNF367 195828 broad.mit.edu 37 9 99160542 99160542 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:99160542C>T uc004awf.2 - 2 830 c.475G>A c.(475-477)GAA>AAA p.E159K ZNF367_uc004awg.2_Missense_Mutation_p.E159K NM_153695 NP_710162 Q7RTV3 ZN367_HUMAN zinc finger protein 367 159 regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0167) TGCTCTCCTTCATTTATTAAA 0.398 25 92 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 119109373 119109373 + Silent SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:119109373C>G uc004bjn.2 + 15 4230 c.3849C>G c.(3847-3849)GTC>GTG p.V1283V PAPPA_uc011lxq.1_Silent_p.V658V NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1283 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GTGAGCCAGTCGACTGCAGCA 0.572 15 33 --- --- --- --- PASS DBC1 1620 broad.mit.edu 37 9 122075433 122075433 + Silent SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:122075433G>T uc004bkc.2 - 2 657 c.201C>A c.(199-201)ACC>ACA p.T67T DBC1_uc004bkd.2_Silent_p.T67T NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 67 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 TTTTATATCTGGTTGTAAATC 0.448 9 30 --- --- --- --- PASS SPTAN1 6709 broad.mit.edu 37 9 131345357 131345357 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:131345357A>G uc004bvl.3 + 15 1921 c.1808A>G c.(1807-1809)GAT>GGT p.D603G SPTAN1_uc011mbg.1_Missense_Mutation_p.D603G|SPTAN1_uc011mbh.1_Missense_Mutation_p.D615G|SPTAN1_uc004bvm.3_Missense_Mutation_p.D603G|SPTAN1_uc004bvn.3_Missense_Mutation_p.D603G NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 603 Spectrin 7. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TATTCACAGGATCCATCCAAC 0.433 12 33 --- --- --- --- PASS TTF1 7270 broad.mit.edu 37 9 135273587 135273587 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:135273587G>T uc004cbl.2 - 4 1770 c.1718C>A c.(1717-1719)CCT>CAT p.P573H TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.P58H NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 573 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TTTTTCCTCAGGATATCTGTC 0.403 4 45 --- --- --- --- PASS ADAMTS13 11093 broad.mit.edu 37 9 136319552 136319552 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:136319552C>A uc004cdv.3 + 24 3504 c.3060C>A c.(3058-3060)TCC>TCA p.S1020S ADAMTS13_uc004cdp.3_Silent_p.S247S|ADAMTS13_uc004cdt.1_Silent_p.S1020S|ADAMTS13_uc004cdu.1_Silent_p.S989S|ADAMTS13_uc004cdw.3_Silent_p.S1020S|ADAMTS13_uc004cdx.3_Silent_p.S989S|ADAMTS13_uc004cdz.3_Silent_p.S690S|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 1020 TSP type-1 7. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) AAGTCATGTCCCTTGGCCCAT 0.637 11 48 --- --- --- --- PASS MLLT10 8028 broad.mit.edu 37 10 21959505 21959505 + Nonsense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr10:21959505C>G uc001iqs.2 + 10 1271 c.923C>G c.(922-924)TCA>TGA p.S308* MLLT10_uc001iqt.2_Nonsense_Mutation_p.S308*|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Nonsense_Mutation_p.S308*|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001iqz.2_Nonsense_Mutation_p.S63* NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 308 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 AAAGATGTTTCAGAGACTAGA 0.453 T MLL|PICALM|CDK6 AL 14 32 --- --- --- --- PASS C10orf67 256815 broad.mit.edu 37 10 23622020 23622020 + Missense_Mutation SNP A T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr10:23622020A>T uc010qcx.1 - 2 367 c.301T>A c.(301-303)TTG>ATG p.L101M NM_153714 NP_714925 Q8IYJ2 CJ067_HUMAN hypothetical protein LOC256815 101 0 GATGAACTCAATTCTTTTACT 0.343 5 17 --- --- --- --- PASS ARID5B 84159 broad.mit.edu 37 10 63852295 63852295 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr10:63852295G>A uc001jlt.1 + 10 3099 c.3073G>A c.(3073-3075)GGG>AGG p.G1025R NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1025 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) TGTGATTGCAGGGAAAAAGGC 0.597 22 40 --- --- --- --- PASS CDHR1 92211 broad.mit.edu 37 10 85972907 85972907 + Missense_Mutation SNP G A A rs144856473 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr10:85972907G>A uc001kcv.2 + 16 1843 c.1843G>A c.(1843-1845)GAG>AAG p.E615K CDHR1_uc001kcw.2_Missense_Mutation_p.E615K|CDHR1_uc009xst.2_Missense_Mutation_p.E319K|CDHR1_uc001kcx.2_5'UTR NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 615 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 CACCCATGCAGAGCCCGCCAA 0.572 11 47 --- --- --- --- PASS DNMBP 23268 broad.mit.edu 37 10 101636941 101636941 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr10:101636941G>A uc001kqj.2 - 17 4793 c.4701C>T c.(4699-4701)CCC>CCT p.P1567P DNMBP_uc010qpl.1_Silent_p.P503P|DNMBP_uc001kqg.2_Silent_p.P855P|DNMBP_uc001kqh.2_Silent_p.P1199P NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 1567 SH3 6. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TATAATTGGAGGGAACGTAGC 0.522 19 25 --- --- --- --- PASS PPRC1 23082 broad.mit.edu 37 10 103901552 103901552 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr10:103901552C>T uc001kum.2 + 5 3326 c.3287C>T c.(3286-3288)GCA>GTA p.A1096V PPRC1_uc001kun.2_Missense_Mutation_p.A976V|PPRC1_uc010qqj.1_Missense_Mutation_p.A1096V|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1096 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GAGGAGCCTGCATCAGAGAGG 0.577 8 11 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108447979 108447979 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr10:108447979G>T uc001kym.2 - 10 1539 c.1531C>A c.(1531-1533)CTA>ATA p.L511I SORCS1_uc001kyl.2_Missense_Mutation_p.L511I|SORCS1_uc009xxs.2_Missense_Mutation_p.L511I|SORCS1_uc001kyn.1_Missense_Mutation_p.L511I|SORCS1_uc001kyo.2_Missense_Mutation_p.L511I NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 511 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCCCCCCTTAGATCCGTGTCC 0.483 17 35 --- --- --- --- PASS C10orf81 79949 broad.mit.edu 37 10 115534730 115534730 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr10:115534730C>A uc001lat.1 + 9 1469 c.907C>A c.(907-909)CAG>AAG p.Q303K C10orf81_uc001lar.1_Missense_Mutation_p.Q309K|C10orf81_uc009xyc.1_Missense_Mutation_p.Q221K|C10orf81_uc001las.1_Missense_Mutation_p.Q221K|C10orf81_uc001lau.1_Missense_Mutation_p.Q123K NM_024889 NP_079165 Q5SXH7 CJ081_HUMAN hypothetical protein LOC79949 303 central_nervous_system(1) 1 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) TGTGGAAGCACAGACCACAAA 0.483 19 34 --- --- --- --- PASS OAT 4942 broad.mit.edu 37 10 126094046 126094046 + Nonsense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr10:126094046C>A uc001lhp.2 - 5 714 c.607G>T c.(607-609)GGA>TGA p.G203* OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Nonsense_Mutation_p.G65* NM_000274 NP_000265 P04181 OAT_HUMAN ornithine aminotransferase precursor 203 cellular amino acid biosynthetic process|visual perception mitochondrial matrix ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding 0 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114) ATGTCGAATCCCGGCATAAAT 0.458 13 34 --- --- --- --- PASS STIM1 6786 broad.mit.edu 37 11 4104625 4104625 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:4104625C>G uc001lyv.2 + 10 1939 c.1371C>G c.(1369-1371)GAC>GAG p.D457E STIM1_uc009yef.2_Missense_Mutation_p.D457E|STIM1_uc009yeg.2_Missense_Mutation_p.D284E NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 457 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) TCAACATAGACCCCAGCTGGA 0.572 10 38 --- --- --- --- PASS TRIM68 55128 broad.mit.edu 37 11 4621770 4621770 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:4621770C>T uc001lzf.1 - 7 1432 c.1194G>A c.(1192-1194)CTG>CTA p.L398L TRIM68_uc001lzg.1_Silent_p.L175L|TRIM68_uc010qyj.1_RNA NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 398 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TTCCCTTCCTCAGCCTTATCA 0.557 13 52 --- --- --- --- PASS OR51L1 119682 broad.mit.edu 37 11 5021116 5021116 + Missense_Mutation SNP C T T rs139272622 byFrequency TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:5021116C>T uc010qyu.1 + 1 904 c.904C>T c.(904-906)CGT>TGT p.R302C NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAGCAGATTCGTCTAGGAAT 0.433 6 47 --- --- --- --- PASS HPX 3263 broad.mit.edu 37 11 6453010 6453010 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:6453010C>A uc001mdg.2 - 9 1051 c.990G>T c.(988-990)CTG>CTT p.L330L HPX_uc001mdf.2_Silent_p.L76L|HPX_uc009yfc.2_RNA NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 330 Hemopexin-like 5. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) CTCCCTTTGTCAGGAAGACAT 0.522 7 119 --- --- --- --- PASS SCUBE2 57758 broad.mit.edu 37 11 9111341 9111341 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:9111341G>T uc001mhh.1 - 2 249 c.169C>A c.(169-171)CAT>AAT p.H57N SCUBE2_uc001mhi.1_Missense_Mutation_p.H57N|SCUBE2_uc001mhj.1_Missense_Mutation_p.H57N NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 57 EGF-like 1; calcium-binding (Potential). extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GCGTCGGCATGGCAGTCATCT 0.532 6 91 --- --- --- --- PASS NUCB2 4925 broad.mit.edu 37 11 17332502 17332502 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:17332502C>T uc001mmw.2 + 7 859 c.614C>T c.(613-615)TCT>TTT p.S205F NUCB2_uc001mms.1_Missense_Mutation_p.S206F|NUCB2_uc001mmt.1_Missense_Mutation_p.S205F|NUCB2_uc001mmv.1_Missense_Mutation_p.S205F|NUCB2_uc009ygz.2_Missense_Mutation_p.S205F NM_005013 NP_005004 P80303 NUCB2_HUMAN nucleobindin 2 precursor 205 By similarity. cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding 0 GAAGAAGAGTCTAAATTTGAA 0.279 6 65 --- --- --- --- PASS NUCB2 4925 broad.mit.edu 37 11 17332538 17332538 + Missense_Mutation SNP A C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:17332538A>C uc001mmw.2 + 7 895 c.650A>C c.(649-651)CAC>CCC p.H217P NUCB2_uc001mms.1_Missense_Mutation_p.H218P|NUCB2_uc001mmt.1_Missense_Mutation_p.H217P|NUCB2_uc001mmv.1_Missense_Mutation_p.H217P|NUCB2_uc009ygz.2_Missense_Mutation_p.H217P NM_005013 NP_005004 P80303 NUCB2_HUMAN nucleobindin 2 precursor 217 By similarity.|Binds to necdin (By similarity). cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding 0 CATGAAAATCACCCTAAAGTT 0.294 9 67 --- --- --- --- PASS QSER1 79832 broad.mit.edu 37 11 32975556 32975556 + Nonsense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:32975556C>G uc001mty.2 + 5 4211 c.3944C>G c.(3943-3945)TCA>TGA p.S1315* QSER1_uc001mtz.1_Nonsense_Mutation_p.S1076*|QSER1_uc001mua.2_Nonsense_Mutation_p.S820* NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1315 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TCAGAATCCTCAAAGCCCATT 0.318 14 35 --- --- --- --- PASS EHF 26298 broad.mit.edu 37 11 34680084 34680084 + Silent SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:34680084G>C uc001mvr.1 + 8 723 c.612G>C c.(610-612)CCG>CCC p.P204P EHF_uc009yke.1_Silent_p.P181P|EHF_uc009ykf.1_Silent_p.P207P NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 204 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) CATCAGACCCGAGAGGGACTC 0.468 14 59 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135797 55135797 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:55135797G>T uc010rif.1 + 1 438 c.438G>T c.(436-438)ATG>ATT p.M146I NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 146 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGGTGGTAATGGCCTATGATC 0.438 22 118 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55418439 55418439 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:55418439G>T uc001nhs.1 + 1 60 c.60G>T c.(58-60)GAG>GAT p.E20D NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) AGAGCCCAGAGATTGAGAAAG 0.373 17 68 --- --- --- --- PASS OR5D13 390142 broad.mit.edu 37 11 55541234 55541234 + Nonsense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:55541234C>A uc010ril.1 + 1 321 c.321C>A c.(319-321)TGC>TGA p.C107* NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 107 Helical; Name=3; (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) GTTTTGCTTGCATTTTTGGAG 0.398 25 93 --- --- --- --- PASS OR5L1 219437 broad.mit.edu 37 11 55579243 55579243 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:55579243T>C uc001nhw.1 + 1 301 c.301T>C c.(301-303)TTC>CTC p.F101L NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) CATGGTGCAATTCTACTTGTT 0.453 29 93 --- --- --- --- PASS SERPING1 710 broad.mit.edu 37 11 57367679 57367679 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:57367679G>A uc001nkp.1 + 3 570 c.379G>A c.(379-381)GTT>ATT p.V127I SERPING1_uc001nkq.1_Missense_Mutation_p.V127I|SERPING1_uc010rju.1_Missense_Mutation_p.V75I|SERPING1_uc010rjv.1_Missense_Mutation_p.V132I|SERPING1_uc001nkr.1_Missense_Mutation_p.V127I|SERPING1_uc009ymi.1_Missense_Mutation_p.V127I|SERPING1_uc009ymj.1_Missense_Mutation_p.V127I|SERPING1_uc001nks.1_Intron NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 127 Missing (in HAE; type 2). blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 CCCAGGACCTGTTACTCTCTG 0.328 Hereditary_Angioedema 37 126 --- --- --- --- PASS OR10W1 81341 broad.mit.edu 37 11 58034512 58034512 + Silent SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:58034512G>T uc001nmq.1 - 1 1221 c.819C>A c.(817-819)ACC>ACA p.T273T NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 273 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) TGAGCAGTGGGGTTCCCAATG 0.537 15 49 --- --- --- --- PASS OR10W1 81341 broad.mit.edu 37 11 58034871 58034871 + Missense_Mutation SNP T A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:58034871T>A uc001nmq.1 - 1 862 c.460A>T c.(460-462)ATC>TTC p.I154F NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 154 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) AGAGAGAAGATGAAGGCCACC 0.488 6 29 --- --- --- --- PASS OR10W1 81341 broad.mit.edu 37 11 58034879 58034879 + Missense_Mutation SNP A C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:58034879A>C uc001nmq.1 - 1 854 c.452T>G c.(451-453)GTG>GGG p.V151G NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GATGAAGGCCACCAGTTGTAA 0.507 11 24 --- --- --- --- PASS OR4D9 390199 broad.mit.edu 37 11 59282787 59282787 + Silent SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:59282787C>G uc010rkv.1 + 1 402 c.402C>G c.(400-402)ACC>ACG p.T134T NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACTATATGACCATCATGAGTA 0.537 10 42 --- --- --- --- PASS TCN1 6947 broad.mit.edu 37 11 59623397 59623397 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:59623397C>A uc001noj.2 - 6 980 c.882G>T c.(880-882)CTG>CTT p.L294L NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 294 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCTTTCCCATCAGGGCAGGTA 0.448 11 67 --- --- --- --- PASS FERMT3 83706 broad.mit.edu 37 11 63978760 63978760 + Silent SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:63978760A>G uc001nyl.2 + 5 677 c.528A>G c.(526-528)GCA>GCG p.A176A FERMT3_uc001nym.2_Silent_p.A176A NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 176 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 TGGCACCTGCACTGTTCCGGG 0.716 3 11 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65269052 65269052 + RNA SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:65269052G>C uc010roh.1 + 1 c.3820G>C uc001ody.2_RNA|MALAT1_uc001odz.2_5'Flank NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 TTTTTTCTAAGATTTTCCACA 0.423 5 64 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 67372302 67372302 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:67372302G>T uc001omi.1 - 2 395 c.239C>A c.(238-240)GCC>GAC p.A80D NDUFV1_uc001omj.2_5'Flank|NDUFV1_uc010rpv.1_5'Flank|NDUFV1_uc001oml.2_5'Flank|NDUFV1_uc001omk.3_5'Flank RecName: Full=Uncharacterized protein C11orf72; atacctcttggcttgtggcct 0.264 8 17 --- --- --- --- PASS MRGPRD 116512 broad.mit.edu 37 11 68748108 68748108 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:68748108C>T uc010rqf.1 - 1 348 c.348G>A c.(346-348)CTG>CTA p.L116L NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 116 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGATGGCCGTCAGCAGGCTCA 0.587 7 20 --- --- --- --- PASS MRGPRD 116512 broad.mit.edu 37 11 68748447 68748447 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:68748447C>G uc010rqf.1 - 1 9 c.9G>C c.(7-9)CAG>CAC p.Q3H NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 3 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TATTCAAAGTCTGGTTCATCC 0.557 9 61 --- --- --- --- PASS P2RY2 5029 broad.mit.edu 37 11 72945520 72945520 + Missense_Mutation SNP T A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:72945520T>A uc001otj.2 + 3 649 c.316T>A c.(316-318)TGC>AGC p.C106S P2RY2_uc001otk.2_Missense_Mutation_p.C106S|P2RY2_uc001otl.2_Missense_Mutation_p.C106S NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 106 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) CACGGTGCTCTGCAAGCTGGT 0.602 14 50 --- --- --- --- PASS MED17 9440 broad.mit.edu 37 11 93545108 93545108 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:93545108G>T uc001pem.3 + 12 2109 c.1834G>T c.(1834-1836)GAT>TAT p.D612Y NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 612 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor 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 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TGTTTTACAAGATAACAAATG 0.383 17 73 --- --- --- --- PASS DLAT 1737 broad.mit.edu 37 11 111908010 111908010 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:111908010G>T uc001pmo.2 + 6 1460 c.801G>T c.(799-801)CAG>CAT p.Q267H DLAT_uc009yyk.1_Intron|DLAT_uc010rwr.1_Missense_Mutation_p.Q140H NM_001931 NP_001922 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase precursor 267 Lipoyl-binding 2. glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding 0 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) TTGAAGTACAGGAAGAAGGTT 0.383 5 62 --- --- --- --- PASS TTC12 54970 broad.mit.edu 37 11 113222836 113222836 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:113222836C>T uc001pnu.2 + 16 1458 c.1353C>T c.(1351-1353)TGC>TGT p.C451C TTC12_uc001pnv.2_Silent_p.C457C|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.C301C NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 451 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TGTGCCAGTGCATTGCCATCA 0.542 15 38 --- --- --- --- PASS FOXRED1 55572 broad.mit.edu 37 11 126146370 126146370 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:126146370C>A uc001qdi.2 + 9 1100 c.1053C>A c.(1051-1053)CGC>CGA p.R351R FOXRED1_uc010sbn.1_Silent_p.R181R|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Silent_p.R164R|FOXRED1_uc010sbq.1_Silent_p.R218R|FOXRED1_uc001qdj.2_Silent_p.R140R|FOXRED1_uc010sbr.1_Silent_p.R337R|FOXRED1_uc001qdk.2_Silent_p.R140R NM_017547 NP_060017 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 351 integral to membrane|mitochondrion oxidoreductase activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) CCTATTTTCGCCGGGAAGGAT 0.552 18 114 --- --- --- --- PASS NFRKB 4798 broad.mit.edu 37 11 129762615 129762615 + Nonsense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr11:129762615C>A uc001qfi.2 - 3 331 c.130G>T c.(130-132)GAG>TAG p.E44* NFRKB_uc001qfg.2_Nonsense_Mutation_p.E57*|NFRKB_uc001qfh.2_Nonsense_Mutation_p.E67*|NFRKB_uc010sbw.1_Nonsense_Mutation_p.E44* NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 44 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) CTCACATCCTCCAGAAGGTCC 0.522 12 71 --- --- --- --- PASS KCNA1 3736 broad.mit.edu 37 12 5021036 5021036 + Silent SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:5021036G>T uc001qnh.2 + 2 1597 c.492G>T c.(490-492)GGG>GGT p.G164G NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 164 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGAGCTCGGGGCCCGCCAGGG 0.622 9 16 --- --- --- --- PASS KCNA5 3741 broad.mit.edu 37 12 5153731 5153731 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:5153731C>G uc001qni.2 + 1 647 c.418C>G c.(418-420)CAG>GAG p.Q140E NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 140 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 CACCCTGGCGCAGTTCCCCAA 0.667 7 35 --- --- --- --- PASS TAS2R8 50836 broad.mit.edu 37 12 10958656 10958656 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:10958656C>T uc010shh.1 - 1 924 c.924G>A c.(922-924)ATG>ATA p.M308I NM_023918 NP_076407 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 308 Cytoplasmic (Potential). sensory perception of taste integral to membrane taste receptor activity ovary(2) 2 GATTTCATATCATGCAGGCAA 0.303 8 22 --- --- --- --- PASS TAS2R20 259295 broad.mit.edu 37 12 11150207 11150207 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:11150207C>T uc001qzm.2 - 1 268 c.268G>A c.(268-270)GTA>ATA p.V90I PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176889 NP_795370 P59543 T2R20_HUMAN taste receptor, type 2, member 20 90 Helical; Name=3; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 TGATTGGTTACTGCCCAGGCA 0.328 18 64 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20893149 20893149 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:20893149C>A uc001rej.3 + 13 1935 c.1580C>A c.(1579-1581)GCA>GAA p.A527E SLCO1C1_uc010sii.1_Missense_Mutation_p.A527E|SLCO1C1_uc010sij.1_Missense_Mutation_p.A478E|SLCO1C1_uc009zip.2_Missense_Mutation_p.A361E|SLCO1C1_uc001rei.2_Missense_Mutation_p.A527E|SLCO1C1_uc010sik.1_Missense_Mutation_p.A409E NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 527 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) GTGGGAATTGCAGCTTCTAAA 0.353 6 54 --- --- --- --- PASS ST8SIA1 6489 broad.mit.edu 37 12 22354570 22354570 + Silent SNP G T T rs113763889 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:22354570G>T uc001rfo.3 - 5 1469 c.987C>A c.(985-987)CTC>CTA p.L329L ST8SIA1_uc009zix.2_Silent_p.L186L NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 329 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 ACCAGAGTTGGAGAAATTCCT 0.493 5 110 --- --- --- --- PASS C12orf35 55196 broad.mit.edu 37 12 32145370 32145370 + Silent SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:32145370A>G uc001rks.2 + 6 5559 c.5145A>G c.(5143-5145)CTA>CTG p.L1715L C12orf35_uc001rkt.2_RNA NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1715 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) TTGAGATGCTACAAAACCCAG 0.343 55 157 --- --- --- --- PASS NCKAP5L 57701 broad.mit.edu 37 12 50195633 50195633 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:50195633G>T uc009zlk.2 - 6 551 c.349C>A c.(349-351)CAG>AAG p.Q117K NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 113 Pro-rich. central_nervous_system(1) 1 ATGCCTACCTGAGGGAGCGAG 0.582 4 47 --- --- --- --- PASS PAN2 9924 broad.mit.edu 37 12 56713650 56713650 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:56713650C>T uc001skx.2 - 21 3329 c.2956G>A c.(2956-2958)GAG>AAG p.E986K PAN2_uc001skw.2_Missense_Mutation_p.E134K|PAN2_uc001skz.2_Missense_Mutation_p.E985K|PAN2_uc001sky.2_Missense_Mutation_p.E982K NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 986 Exonuclease. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 TTGGTTACCTCATTAAGGGTG 0.448 10 40 --- --- --- --- PASS LRRC10 376132 broad.mit.edu 37 12 70004494 70004494 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:70004494C>A uc001svc.2 - 1 449 c.125G>T c.(124-126)CGC>CTC p.R42L NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 42 nucleus 0 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GGGGAAGCGGCGTAACTGGCT 0.607 3 27 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78522538 78522538 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:78522538C>T uc001syp.2 + 18 4506 c.4333C>T c.(4333-4335)CGT>TGT p.R1445C NAV3_uc001syo.2_Missense_Mutation_p.R1445C|NAV3_uc010sub.1_Missense_Mutation_p.R931C|NAV3_uc009zsf.2_Missense_Mutation_p.R276C NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1445 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGAGTGGTTGCGTTCTCATTC 0.498 HNSCC(70;0.22) 20 55 --- --- --- --- PASS HAL 3034 broad.mit.edu 37 12 96387243 96387243 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:96387243C>A uc001tem.1 - 8 872 c.575G>T c.(574-576)CGC>CTC p.R192L HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Missense_Mutation_p.R192L NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 192 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) AGAATGTGAGCGTACTAAGTT 0.428 14 55 --- --- --- --- PASS ASCL4 121549 broad.mit.edu 37 12 108169032 108169032 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:108169032C>A uc001tmr.2 + 1 871 c.40C>A c.(40-42)CCA>ACA p.P14T NM_203436 NP_982260 Q6XD76 ASCL4_HUMAN achaete-scute complex-like 4 13 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1) 1 GCTGGCCTTGCCATACTCGCT 0.637 14 40 --- --- --- --- PASS CORO1C 23603 broad.mit.edu 37 12 109052593 109052593 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:109052593C>T uc001tnj.2 - 5 647 c.551G>A c.(550-552)CGG>CAG p.R184Q CORO1C_uc009zva.2_Missense_Mutation_p.R237Q|CORO1C_uc010sxf.1_Missense_Mutation_p.R147Q NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C isoform 1 184 WD 3. actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding skin(3) 3 ACTGCCATTCCGGTTCCAGCT 0.428 16 51 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109698427 109698427 + Silent SNP G T T rs61753862 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:109698427G>T uc001tob.2 + 48 6758 c.6639G>T c.(6637-6639)CCG>CCT p.P2213P ACACB_uc001toc.2_Silent_p.P2213P|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.P879P NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2213 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CCATCAACCCGCTGTGCATAG 0.542 21 90 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112694272 112694272 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:112694272G>T uc009zwc.2 - 14 1901 c.1883C>A c.(1882-1884)CCT>CAT p.P628H C12orf51_uc010syk.1_Missense_Mutation_p.P451H|C12orf51_uc001tts.2_Missense_Mutation_p.P451H|C12orf51_uc001ttt.3_Missense_Mutation_p.P449H NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CCATGGGGCAGGAATCTTTAA 0.448 4 30 --- --- --- --- PASS MSI1 4440 broad.mit.edu 37 12 120789151 120789151 + Silent SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:120789151A>G uc001tye.1 - 11 850 c.786T>C c.(784-786)CTT>CTC p.L262L NM_002442 NP_002433 O43347 MSI1H_HUMAN musashi 1 262 nervous system development cytoplasm|nucleus nucleotide binding central_nervous_system(2)|breast(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACTGACCTGTAAGCTCGGGGA 0.557 11 10 --- --- --- --- PASS TCTN2 79867 broad.mit.edu 37 12 124163813 124163813 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:124163813G>A uc001ufp.2 + 5 669 c.541G>A c.(541-543)GAT>AAT p.D181N TCTN2_uc009zya.2_Missense_Mutation_p.D180N NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 181 Extracellular (Potential).|Cys-rich. cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGGAGCCTGTGATGTTCGCTG 0.453 24 56 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124257441 124257441 + Nonsense_Mutation SNP G T T rs142898915 by1000genomes TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr12:124257441G>T uc001uft.3 + 4 299 c.274G>T c.(274-276)GAG>TAG p.E92* NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 92 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCCTCTTCCCGAGGAGTTCCT 0.468 5 162 --- --- --- --- PASS ZDHHC20 253832 broad.mit.edu 37 13 21976986 21976986 + Silent SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:21976986T>C uc001uob.2 - 5 503 c.390A>G c.(388-390)AAA>AAG p.K130K ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_Silent_p.K67K NM_153251 NP_694983 Q5W0Z9 ZDH20_HUMAN zinc finger, DHHC-type containing 20 130 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171) TCAGCTGACATTTTTCACAAT 0.358 6 19 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23906130 23906130 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:23906130A>G uc001uon.2 - 10 12474 c.11885T>C c.(11884-11886)ATA>ACA p.I3962T SACS_uc001uoo.2_Missense_Mutation_p.I3815T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3962 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAAGAGCATTATCAACTTAGT 0.383 31 69 --- --- --- --- PASS N4BP2L2 10443 broad.mit.edu 37 13 33110164 33110164 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:33110164T>C uc001uuk.3 - 2 1179 c.1001A>G c.(1000-1002)AAC>AGC p.N334S N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.N334S|N4BP2L2_uc001uum.2_5'Flank NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 334 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) ATATTCATTGTTCTGATCAAA 0.358 10 30 --- --- --- --- PASS CSNK1A1L 122011 broad.mit.edu 37 13 37679333 37679333 + Missense_Mutation SNP G C C rs56158728 by1000genomes TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:37679333G>C uc001uwm.1 - 1 469 c.61C>G c.(61-63)CGG>GGG p.R21G NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 21 Protein kinase. R -> W. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity p.R21Q(1) large_intestine(1) 1 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) CCGATCTTCCGCACCAGTTTG 0.557 17 31 --- --- --- --- PASS UFM1 51569 broad.mit.edu 37 13 38934882 38934882 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:38934882G>A uc001uwu.2 + 6 340 c.225G>A c.(223-225)CGG>CGA p.R75R UFM1_uc010aca.2_3'UTR NM_016617 NP_057701 P61960 UFM1_HUMAN ubiquitin-fold modifier 1 precursor 75 protein ufmylation cytoplasm|nucleus protein binding 0 Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132) CAGAACTGCGGATTATTCCTA 0.284 7 28 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61986832 61986832 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:61986832C>A uc001vid.3 - 2 1764 c.1400G>T c.(1399-1401)TGC>TTC p.C467F PCDH20_uc010thj.1_Missense_Mutation_p.C467F NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 440 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) ATCCAGGTAGCAGTTAACCTT 0.403 6 45 --- --- --- --- PASS DACH1 1602 broad.mit.edu 37 13 72014822 72014822 + Nonsense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:72014822C>A uc010thn.1 - 12 2509 c.2086G>T c.(2086-2088)GGA>TGA p.G696* DACH1_uc010tho.1_Nonsense_Mutation_p.G548*|DACH1_uc010thp.1_Nonsense_Mutation_p.G494* NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 748 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TACAGTCTTCCATCTAGAAAT 0.313 4 55 --- --- --- --- PASS EDNRB 1910 broad.mit.edu 37 13 78492262 78492262 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:78492262C>A uc001vko.2 - 1 705 c.447G>T c.(445-447)CTG>CTT p.L149L uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Silent_p.L149L|EDNRB_uc010aez.1_Silent_p.L149L|EDNRB_uc001vkp.1_Silent_p.L232L|EDNRB_uc010afa.1_Silent_p.L149L NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 149 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) TGACGATGTGCAGCAGGTCTC 0.517 32 89 --- --- --- --- PASS CLDN10 9071 broad.mit.edu 37 13 96086145 96086145 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:96086145G>A uc001vmg.2 + 1 293 c.58G>A c.(58-60)GTT>ATT p.V20I CLDN10_uc010tii.1_Missense_Mutation_p.V20I NM_182848 NP_878268 P78369 CLD10_HUMAN claudin 10 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) TGGAGCTCTCGTTGCTGCTAC 0.592 14 23 --- --- --- --- PASS DOCK9 23348 broad.mit.edu 37 13 99452707 99452707 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:99452707C>G uc001vnt.2 - 52 5851 c.5796G>C c.(5794-5796)AAG>AAC p.K1932N DOCK9_uc001vnw.2_Missense_Mutation_p.K1931N|DOCK9_uc001vnq.2_Missense_Mutation_p.K479N|DOCK9_uc001vnr.2_Missense_Mutation_p.K561N|DOCK9_uc010tin.1_Missense_Mutation_p.K550N|DOCK9_uc001vns.2_Missense_Mutation_p.K467N|DOCK9_uc010tio.1_Missense_Mutation_p.K587N|DOCK9_uc010tip.1_Missense_Mutation_p.K628N NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1932 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGATGCGCTTCTTCACATAAG 0.507 8 33 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101753194 101753194 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:101753194C>T uc001vox.1 - 27 3292 c.3103G>A c.(3103-3105)GGA>AGA p.G1035R NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1035 Helical; Name=S5 of repeat III; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGCTGAACTCCAAAGCTTGCA 0.318 13 37 --- --- --- --- PASS ERCC5 2073 broad.mit.edu 37 13 103528079 103528079 + Silent SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:103528079G>T uc001vpw.2 + 15 3830 c.3387G>T c.(3385-3387)TCG>TCT p.S1129S NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 1129 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CTTCAGATTCGCAGAACTCAG 0.468 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 22 33 --- --- --- --- PASS FAM155A 728215 broad.mit.edu 37 13 108518186 108518186 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:108518186C>A uc001vql.2 - 1 1275 c.759G>T c.(757-759)AAG>AAT p.K253N NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 253 integral to membrane binding skin(1) 1 CGCCGCCTTCCTTGAGCACCA 0.498 7 154 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108861558 108861558 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr13:108861558C>A uc001vqn.2 - 2 2332 c.2059G>T c.(2059-2061)GGT>TGT p.G687C LIG4_uc001vqo.2_Missense_Mutation_p.G687C|LIG4_uc010agg.1_Missense_Mutation_p.G620C|LIG4_uc010agf.2_Missense_Mutation_p.G687C|LIG4_uc001vqp.2_Missense_Mutation_p.G687C NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 687 BRCT 1. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ACTATATAACCACCAAATTCT 0.368 NHEJ 25 34 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20216032 20216032 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:20216032G>C uc010tkt.1 + 1 446 c.446G>C c.(445-447)TGC>TCC p.C149S NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTTCTTGCCTGCTGGTGTGGG 0.498 15 108 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20248958 20248958 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:20248958G>C uc010tku.1 + 1 477 c.477G>C c.(475-477)CAG>CAC p.Q159H NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTATAATACAGGTGGCTCTCA 0.507 26 329 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20444613 20444613 + Silent SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:20444613G>C uc010tkx.1 + 1 936 c.936G>C c.(934-936)ACG>ACC p.T312T NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 312 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TAATCTACACGCTAAGAAACA 0.398 25 62 --- --- --- --- PASS NGDN 25983 broad.mit.edu 37 14 23945346 23945346 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:23945346G>T uc001wjy.2 + 7 556 c.529G>T c.(529-531)GTT>TTT p.V177F NGDN_uc001wjz.2_Missense_Mutation_p.V177F|NGDN_uc001wka.2_5'Flank NM_001042635 NP_001036100 Q8NEJ9 NGDN_HUMAN neuroguidin isoform 1 177 regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus 0 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) TCCACGCTTGGTTCCAGTACA 0.433 15 60 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33291286 33291286 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:33291286C>T uc001wrq.2 + 13 4437 c.4267C>T c.(4267-4269)CCA>TCA p.P1423S NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1423 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CATTAAGCTTCCAAATAGCTC 0.413 15 51 --- --- --- --- PASS RALGAPA1 253959 broad.mit.edu 37 14 36219896 36219896 + Missense_Mutation SNP T A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:36219896T>A uc001wti.2 - 9 1194 c.803A>T c.(802-804)GAC>GTC p.D268V RALGAPA1_uc001wtj.2_Missense_Mutation_p.D268V|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D268V|RALGAPA1_uc010tpw.1_Missense_Mutation_p.D268V|RALGAPA1_uc001wtk.1_Missense_Mutation_p.D119V NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 268 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 CTGCGGGATGTCTGTGCAAAA 0.323 11 45 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356584 42356584 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:42356584G>C uc001wvm.2 + 3 1954 c.756G>C c.(754-756)AGG>AGC p.R252S LRFN5_uc010ana.2_Missense_Mutation_p.R252S NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 252 Extracellular (Potential).|LRRCT. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGTGGTTGAGGCGTCTGTCCA 0.443 HNSCC(30;0.082) 26 101 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44973864 44973864 + Missense_Mutation SNP A T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:44973864A>T uc001wvn.2 - 1 2636 c.2327T>A c.(2326-2328)GTT>GAT p.V776D NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 776 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TTCCAAAACAACCGATCCTAA 0.413 25 82 --- --- --- --- PASS ERO1L 30001 broad.mit.edu 37 14 53120022 53120022 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:53120022C>G uc001wzv.2 - 12 1046 c.820G>C c.(820-822)GAA>CAA p.E274Q ERO1L_uc001wzw.2_RNA|ERO1L_uc010aof.2_RNA NM_014584 NP_055399 Q96HE7 ERO1A_HUMAN ERO1-like precursor 274 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor 0 Breast(41;0.226) CATTTCTTTTCTAACCAGGTC 0.303 31 81 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64692225 64692225 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:64692225A>G uc001xgm.2 + 115 20869 c.20639A>G c.(20638-20640)AAT>AGT p.N6880S SYNE2_uc001xgl.2_Missense_Mutation_p.N6902S|SYNE2_uc010apy.2_Missense_Mutation_p.N3265S|SYNE2_uc001xgn.2_Missense_Mutation_p.N1841S|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.N850S|SYNE2_uc001xgq.2_Missense_Mutation_p.N1259S|SYNE2_uc001xgr.2_Missense_Mutation_p.N663S|SYNE2_uc010tsi.1_Missense_Mutation_p.N537S|SYNE2_uc001xgs.2_Missense_Mutation_p.N551S|SYNE2_uc001xgt.2_Missense_Mutation_p.N424S NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6880 Perinuclear space (Potential).|KASH. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGGTACACCAATGGGCCACCC 0.527 7 31 --- --- --- --- PASS KIAA0247 9766 broad.mit.edu 37 14 70171368 70171368 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:70171368G>A uc001xlk.2 + 4 683 c.367G>A c.(367-369)GCT>ACT p.A123T KIAA0247_uc010aqz.2_Missense_Mutation_p.A98T NM_014734 NP_055549 Q92537 K0247_HUMAN hypothetical protein LOC9766 precursor 123 Helical; (Potential). integral to membrane ovary(3) 3 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) GTCTATAGTGGCTTCTACTGC 0.493 8 20 --- --- --- --- PASS DPF3 8110 broad.mit.edu 37 14 73238469 73238469 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:73238469G>C uc001xnc.2 - 2 178 c.165C>G c.(163-165)ATC>ATG p.I55M DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.I55M|DPF3_uc010ttq.1_Missense_Mutation_p.I65M NM_012074 NP_036206 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 55 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TCTCCATCCAGATGTAGCAGT 0.627 13 51 --- --- --- --- PASS NEK9 91754 broad.mit.edu 37 14 75590749 75590749 + Nonsense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:75590749C>A uc001xrl.2 - 2 551 c.397G>T c.(397-399)GGA>TGA p.G133* NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 133 Protein kinase. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) TCTATCTTACCATTACAATAT 0.383 5 80 --- --- --- --- PASS SPTLC2 9517 broad.mit.edu 37 14 77987879 77987879 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:77987879C>T uc001xub.2 - 10 1537 c.1349G>A c.(1348-1350)AGG>AAG p.R450K NM_004863 NP_004854 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base 450 KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups p.R450R(1) upper_aerodigestive_tract(1)|ovary(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CAGGCGTCTCCTGAAATACCT 0.413 8 48 --- --- --- --- PASS SPATA7 55812 broad.mit.edu 37 14 88857754 88857754 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:88857754G>T uc001xwq.2 + 2 200 c.49G>T c.(49-51)GGT>TGT p.G17C SPATA7_uc001xwr.2_Missense_Mutation_p.G17C NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 17 response to stimulus|visual perception ovary(1) 1 TCCCAGATATGGTCCACCGTG 0.358 4 14 --- --- --- --- PASS ASB2 51676 broad.mit.edu 37 14 94420769 94420769 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:94420769C>A uc001ycc.1 - 2 717 c.228G>T c.(226-228)ATG>ATT p.M76I ASB2_uc001ycd.2_Missense_Mutation_p.M124I|ASB2_uc001yce.1_Missense_Mutation_p.M22I NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 76 ANK 1. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CTTCCTTGATCATGGTCTTCA 0.592 6 28 --- --- --- --- PASS TNFAIP2 7127 broad.mit.edu 37 14 103598002 103598002 + Missense_Mutation SNP T G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr14:103598002T>G uc001ymm.1 + 7 1456 c.1325T>G c.(1324-1326)GTA>GGA p.V442G TNFAIP2_uc010awo.1_Missense_Mutation_p.V154G|TNFAIP2_uc010txz.1_Missense_Mutation_p.V111G|TNFAIP2_uc010tya.1_5'Flank NM_006291 NP_006282 Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 442 angiogenesis|cell differentiation extracellular space central_nervous_system(1) 1 Melanoma(154;0.155) Epithelial(46;0.191) AATTGGCAGGTACCCCAGGAC 0.622 4 4 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369360 22369360 + Missense_Mutation SNP G T T rs138137222 byFrequency TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr15:22369360G>T uc010tzu.1 + 1 785 c.785G>T c.(784-786)CGC>CTC p.R262L LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATTTATGCTCGCCCATTTGAC 0.418 22 89 --- --- --- --- PASS OR4N4 283694 broad.mit.edu 37 15 22382912 22382912 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr15:22382912C>A uc001yuc.1 + 7 1421 c.440C>A c.(439-441)GCT>GAT p.A147D LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.A147D NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATGATGTTGGCTCTGTGGCTT 0.527 16 75 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24924184 24924184 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr15:24924184C>G uc001ywo.2 + 1 3644 c.3170C>G c.(3169-3171)GCA>GGA p.A1057G NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 1057 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TTTGGTCAGGCAGCCTGGGAC 0.547 9 25 --- --- --- --- PASS PPIP5K1 9677 broad.mit.edu 37 15 43827208 43827208 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr15:43827208C>A uc001zrw.2 - 31 4149 c.3966G>T c.(3964-3966)GAG>GAT p.E1322D PPIP5K1_uc001zrx.1_Missense_Mutation_p.E1295D|PPIP5K1_uc001zru.2_Missense_Mutation_p.E1297D|PPIP5K1_uc001zry.3_Missense_Mutation_p.E1297D|PPIP5K1_uc001zrv.2_Missense_Mutation_p.E1083D NM_001130858 NP_001124330 Q6PFW1 VIP1_HUMAN histidine acid phosphatase domain containing 2A 1322 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity 0 GGCAAACTTCCTCAGAGACTT 0.557 23 44 --- --- --- --- PASS STRC 161497 broad.mit.edu 37 15 43903132 43903132 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr15:43903132C>T uc001zsf.2 - 14 3435 c.3357G>A c.(3355-3357)GTG>GTA p.V1119V STRC_uc010bdl.2_Intron|STRC_uc001zse.2_Translation_Start_Site NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1119 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CAGGGATACACACAGCTGGAC 0.418 16 69 --- --- --- --- PASS DUOX1 53905 broad.mit.edu 37 15 45443357 45443357 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr15:45443357C>A uc001zus.1 + 24 3271 c.2925C>A c.(2923-2925)AGC>AGA p.S975R DUOX1_uc001zut.1_Missense_Mutation_p.S975R|DUOX1_uc010bee.1_Missense_Mutation_p.S355R|DUOX1_uc001zuu.2_Missense_Mutation_p.S117R NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 975 Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GTTCCCGCAGCGACATTGAGA 0.547 4 57 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62219377 62219377 + Silent SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr15:62219377G>T uc002agz.2 - 52 6503 c.6429C>A c.(6427-6429)CTC>CTA p.L2143L VPS13C_uc002aha.2_Silent_p.L2100L|VPS13C_uc002ahb.1_Silent_p.L2143L|VPS13C_uc002ahc.1_Silent_p.L2100L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2143 protein localization ovary(2) 2 TCATCTGTTCGAGTTTGGATG 0.458 5 224 --- --- --- --- PASS MPI 4351 broad.mit.edu 37 15 75189482 75189482 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr15:75189482C>A uc002azc.1 + 7 980 c.975C>A c.(973-975)CTC>CTA p.L325L MPI_uc002azd.1_Intron|MPI_uc010ulx.1_Silent_p.L275L|MPI_uc002aze.1_Silent_p.L264L NM_002435 NP_002426 P34949 MPI_HUMAN mannose-6- phosphate isomerase 325 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding ovary(2) 2 GGCTCTTTCTCCCAACACGGA 0.532 24 77 --- --- --- --- PASS ZNF598 90850 broad.mit.edu 37 16 2049972 2049972 + Silent SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:2049972G>T uc002cof.1 - 11 1593 c.1578C>A c.(1576-1578)ACC>ACA p.T526T ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 526 intracellular zinc ion binding lung(1)|breast(1) 2 GGCCGCTGCCGGTAGCCTGCG 0.706 2 0 --- --- --- --- PASS C16orf90 646174 broad.mit.edu 37 16 3544563 3544563 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:3544563G>A uc002cvi.2 - 2 361 c.361C>T c.(361-363)CTG>TTG p.L121L NM_001080524 NP_001073993 A8MZG2 CP090_HUMAN hypothetical protein LOC646174 111 0 CGGGCTTCCAGAAGGGCTGAA 0.662 7 36 --- --- --- --- PASS XYLT1 64131 broad.mit.edu 37 16 17211579 17211579 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:17211579G>T uc002dfa.2 - 11 2566 c.2481C>A c.(2479-2481)CAC>CAA p.H827Q NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 827 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GCACCCAGTGGTGGAGAATTT 0.537 8 50 --- --- --- --- PASS ACSM1 116285 broad.mit.edu 37 16 20651905 20651905 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:20651905T>C uc002dhm.1 - 7 1062 c.994A>G c.(994-996)ATC>GTC p.I332V ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.I332V NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 332 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 GGGAACCTGATGCTTAGAGGA 0.552 11 31 --- --- --- --- PASS PRKCB 5579 broad.mit.edu 37 16 24135245 24135245 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:24135245G>A uc002dmd.2 + 9 1205 c.1008G>A c.(1006-1008)CGG>CGA p.R336R PRKCB_uc002dme.2_Silent_p.R336R NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 336 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) ACAGAGACCGGATGAAACTGA 0.483 23 92 --- --- --- --- PASS ATXN2L 11273 broad.mit.edu 37 16 28842045 28842045 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:28842045C>T uc002drc.2 + 9 1312 c.1144C>T c.(1144-1146)CGT>TGT p.R382C uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.R382C|ATXN2L_uc002drb.2_Missense_Mutation_p.R382C|ATXN2L_uc002dqy.2_Missense_Mutation_p.R382C|ATXN2L_uc002dra.2_Missense_Mutation_p.R382C|ATXN2L_uc002dqz.2_Missense_Mutation_p.R382C|ATXN2L_uc010vdb.1_Missense_Mutation_p.R382C|ATXN2L_uc002dre.2_Missense_Mutation_p.R382C|ATXN2L_uc002drf.2_5'UTR NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 382 membrane upper_aerodigestive_tract(1)|ovary(1) 2 TTTGCCACCTCGTGGCCCTCA 0.612 11 24 --- --- --- --- PASS SPNS1 83985 broad.mit.edu 37 16 28994515 28994515 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:28994515C>T uc010vdi.1 + 11 1364 c.1224C>T c.(1222-1224)TAC>TAT p.Y408Y uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.Y335Y|SPNS1_uc002dsa.2_Silent_p.Y408Y|SPNS1_uc002drz.2_Silent_p.Y356Y|SPNS1_uc010byp.2_Silent_p.Y334Y|SPNS1_uc010byq.1_Silent_p.Y340Y|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 408 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 CTCCACAGTACGTGGTGATCC 0.662 6 15 --- --- --- --- PASS ITFG1 81533 broad.mit.edu 37 16 47196508 47196508 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:47196508C>T uc002eet.2 - 15 1583 c.1521G>A c.(1519-1521)CGG>CGA p.R507R ITFG1_uc010vgg.1_Silent_p.R252R|ITFG1_uc010vgh.1_Silent_p.R394R NM_030790 NP_110417 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 507 extracellular region|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) AATTTGCGCTCCGACCTAAAC 0.363 20 80 --- --- --- --- PASS GPR97 222487 broad.mit.edu 37 16 57712152 57712152 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:57712152G>A uc002emh.2 + 4 519 c.416G>A c.(415-417)CGA>CAA p.R139Q GPR97_uc010cdc.2_Missense_Mutation_p.R139Q|GPR97_uc010vhv.1_Missense_Mutation_p.R19Q|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 139 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 AGCCTTTTTCGATCCCTGCCA 0.572 12 55 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61851395 61851395 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:61851395G>T uc002eog.1 - 7 1517 c.1265C>A c.(1264-1266)TCC>TAC p.S422Y CDH8_uc002eoh.2_Missense_Mutation_p.S191Y NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 422 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TATAGGACTGGAAGTGATATC 0.433 8 52 --- --- --- --- PASS C16orf86 388284 broad.mit.edu 37 16 67701881 67701881 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:67701881G>A uc002ety.2 + 3 590 c.433G>A c.(433-435)GAG>AAG p.E145K C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_Missense_Mutation_p.E160K|C16orf86_uc002etz.2_RNA NM_001012984 NP_001013002 Q6ZW13 CP086_HUMAN hypothetical protein LOC388284 145 0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CAGCCAGAGTGAGCCCTCACC 0.622 OREG0023886 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 24 --- --- --- --- PASS ZFP90 146198 broad.mit.edu 37 16 68598587 68598587 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:68598587C>A uc010cff.2 + 5 2189 c.1897C>A c.(1897-1899)CGA>AGA p.R633R ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Silent_p.R633R|ZFP90_uc002ewe.2_Silent_p.R633R NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN zinc finger protein 90 633 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AATTCATACTCGAAATAAACT 0.378 4 61 --- --- --- --- PASS ZNF19 7567 broad.mit.edu 37 16 71510125 71510125 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:71510125C>G uc010cgc.1 - 6 831 c.325G>C c.(325-327)GAA>CAA p.E109Q ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.E97Q|ZNF19_uc002fal.1_Missense_Mutation_p.E97Q|ZNF19_uc002fam.1_Missense_Mutation_p.E109Q NM_006961 NP_008892 P17023 ZNF19_HUMAN zinc finger protein 19 109 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) TCTCTTTCTTCAGAAATTCCC 0.428 7 40 --- --- --- --- PASS PMFBP1 83449 broad.mit.edu 37 16 72166752 72166752 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:72166752C>G uc002fcc.3 - 10 1514 c.1342G>C c.(1342-1344)GCT>CCT p.A448P PMFBP1_uc002fcd.2_Missense_Mutation_p.A448P|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.A303P NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 448 Potential. ovary(2) 2 Ovarian(137;0.179) TCCTGCTTAGCCTCCTTGACT 0.542 12 61 --- --- --- --- PASS CHST5 23563 broad.mit.edu 37 16 75563809 75563809 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:75563809G>T uc002fei.2 - 3 1869 c.474C>A c.(472-474)AGC>AGA p.S158R CHST5_uc002fej.1_Missense_Mutation_p.S164R NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 158 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GGGGAAAGGCGCTGCAGGCGG 0.642 15 74 --- --- --- --- PASS C16orf7 9605 broad.mit.edu 37 16 89777102 89777102 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:89777102C>G uc002fom.1 - 10 1275 c.1150G>C c.(1150-1152)GAG>CAG p.E384Q C16orf7_uc002fol.1_Missense_Mutation_p.E314Q|uc002fon.1_5'Flank NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN chromosome 16 open reading frame 7 384 ATP synthesis coupled proton transport GTPase activator activity|transporter activity 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) AGGAACTGCTCCAGGTCCTCG 0.692 3 3 --- --- --- --- PASS OR1D2 4991 broad.mit.edu 37 17 2996205 2996205 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:2996205C>A uc010vrb.1 - 1 86 c.86G>T c.(85-87)TGG>TTG p.W29L NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 29 Helical; Name=1; (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 CAGGAACATCCAAAACAGGAT 0.542 5 91 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C A A rs121912656 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:7577547C>A uc002gim.2 - 7 928 c.734G>T c.(733-735)GGC>GTC p.G245V TP53_uc002gig.1_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGGTTCATGCCGCCCATGCA 0.582 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 26 --- --- --- --- PASS PER1 5187 broad.mit.edu 37 17 8051027 8051027 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:8051027C>T uc002gkd.2 - 11 1591 c.1353G>A c.(1351-1353)AAG>AAA p.K451K PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.K435K NM_002616 NP_002607 O15534 PER1_HUMAN period 1 451 PAC. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 CGAAGGCTACCTTGCGGCTCC 0.647 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 3 11 --- --- --- --- PASS KRBA2 124751 broad.mit.edu 37 17 8272809 8272809 + Silent SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:8272809G>T uc002glf.1 - 2 1128 c.1122C>A c.(1120-1122)ACC>ACA p.T374T KRBA2_uc002glg.1_Silent_p.T291T NM_213597 NP_998762 Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 374 Integrase catalytic. DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding 0 TCTGCATCCAGGTACTTATCA 0.507 5 52 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10427107 10427107 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:10427107G>A uc010coi.2 - 36 5398 c.5270C>T c.(5269-5271)GCA>GTA p.A1757V uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1757V|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1757 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTTTTCTTCTGCATTGCGGGC 0.458 18 44 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18022930 18022930 + Silent SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:18022930A>G uc010vxh.1 + 2 1154 c.816A>G c.(814-816)CCA>CCG p.P272P NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 272 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CGGCCTGGCCACCCTACGGCG 0.662 5 15 --- --- --- --- PASS AP2B1 163 broad.mit.edu 37 17 33953725 33953725 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:33953725G>C uc002hjr.2 + 7 991 c.802G>C c.(802-804)GAA>CAA p.E268Q AP2B1_uc002hjq.2_Missense_Mutation_p.E268Q|AP2B1_uc010wci.1_Missense_Mutation_p.E230Q|AP2B1_uc002hjs.2_Missense_Mutation_p.E211Q|AP2B1_uc002hjt.2_Missense_Mutation_p.E268Q|AP2B1_uc010ctv.2_Missense_Mutation_p.E268Q|AP2B1_uc010wcj.1_Missense_Mutation_p.E5Q NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 268 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) GAAGTTTCTAGAATTGTTACC 0.483 46 141 --- --- --- --- PASS MED24 9862 broad.mit.edu 37 17 38183201 38183201 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:38183201G>A uc002htt.2 - 17 1930 c.1617C>T c.(1615-1617)ATC>ATT p.I539I MED24_uc010wes.1_Silent_p.I399I|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.I564I|MED24_uc002htu.2_Silent_p.I526I|MED24_uc010cwn.2_Silent_p.I526I|MED24_uc010weu.1_Silent_p.I449I|MED24_uc010wev.1_Silent_p.I489I|MED24_uc010wew.1_Silent_p.I480I|MED24_uc010wex.1_Silent_p.I244I|SNORD124_uc010wey.1_5'Flank NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 539 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) CAGGGTTCAGGATCTTGCCCT 0.602 OREG0024386 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 24 --- --- --- --- PASS UBTF 7343 broad.mit.edu 37 17 42289033 42289033 + Nonsense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:42289033G>A uc002igb.2 - 9 1055 c.988C>T c.(988-990)CAG>TAG p.Q330* UBTF_uc002igc.2_Nonsense_Mutation_p.Q293*|UBTF_uc010czs.2_Nonsense_Mutation_p.Q330*|UBTF_uc002igd.2_Nonsense_Mutation_p.Q293*|UBTF_uc010czt.2_Nonsense_Mutation_p.Q330*|UBTF_uc002ige.2_Nonsense_Mutation_p.Q293* NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 330 HMG box 3. positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) TTCCACTGCTGGCTGCACAGC 0.592 24 58 --- --- --- --- PASS UBTF 7343 broad.mit.edu 37 17 42293285 42293285 + Missense_Mutation SNP T G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:42293285T>G uc002igb.2 - 3 374 c.307A>C c.(307-309)AAA>CAA p.K103Q UBTF_uc002igc.2_Missense_Mutation_p.K103Q|UBTF_uc010czs.2_Missense_Mutation_p.K103Q|UBTF_uc002igd.2_Missense_Mutation_p.K103Q|UBTF_uc010czt.2_Missense_Mutation_p.K103Q|UBTF_uc002ige.2_Missense_Mutation_p.K103Q NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 103 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) TTGAGTTTTTTGCCTTTGTAA 0.478 15 62 --- --- --- --- PASS SGCA 6442 broad.mit.edu 37 17 48244818 48244818 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:48244818G>A uc002iqi.2 + 2 163 c.127G>A c.(127-129)GAG>AAG p.E43K SGCA_uc010wmh.1_5'UTR|SGCA_uc002iqj.2_Missense_Mutation_p.E43K|SGCA_uc010wmi.1_RNA NM_000023 NP_000014 Q16586 SGCA_HUMAN sarcoglycan, alpha isoform 1 precursor 43 Extracellular (Potential). muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(2) 2 CTTGGACCATGAGACGTTTCT 0.657 16 38 --- --- --- --- PASS USP32 84669 broad.mit.edu 37 17 58260692 58260692 + Silent SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:58260692G>C uc002iyo.1 - 31 4243 c.3957C>G c.(3955-3957)CTC>CTG p.L1319L USP32_uc002iyn.1_Silent_p.L989L NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1319 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TATGCTGGCAGAGAGCCGGGT 0.493 34 76 --- --- --- --- PASS FTSJ3 117246 broad.mit.edu 37 17 61902623 61902623 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:61902623C>G uc002jbz.2 - 6 652 c.574G>C c.(574-576)GAG>CAG p.E192Q FTSJ3_uc002jca.2_Missense_Mutation_p.E192Q|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 192 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 ACAAAGATCTCTGCAGATTCA 0.493 20 34 --- --- --- --- PASS PSMC5 5705 broad.mit.edu 37 17 61908527 61908527 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:61908527C>G uc002jcb.2 + 8 852 c.811C>G c.(811-813)CGC>GGC p.R271G PSMC5_uc010ddy.2_Missense_Mutation_p.R248G|PSMC5_uc010ddz.2_Missense_Mutation_p.R192G|PSMC5_uc002jcc.2_Missense_Mutation_p.R263G|PSMC5_uc002jcd.2_Missense_Mutation_p.R263G NM_002805 NP_002796 P62195 PRS8_HUMAN proteasome 26S ATPase subunit 5 271 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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding large_intestine(1) 1 TGAAGTGCAGCGCACGATGCT 0.587 19 72 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65822267 65822267 + Nonsense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:65822267G>T uc002jgf.2 + 1 488 c.427G>T c.(427-429)GAG>TAG p.E143* BPTF_uc002jge.2_Nonsense_Mutation_p.E143*|BPTF_uc010wqm.1_Nonsense_Mutation_p.E143* NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 143 Glu-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) catggtctccgaggaggagga 0.468 3 35 --- --- --- --- PASS WIPI1 55062 broad.mit.edu 37 17 66425064 66425064 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:66425064G>A uc010dey.2 - 10 1070 c.979C>T c.(979-981)CCA>TCA p.P327S WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.P245S|WIPI1_uc002jhe.3_RNA NM_017983 NP_060453 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 327 WD 3. macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding 0 AGCAGCCGTGGCAACTTCTGG 0.493 7 23 --- --- --- --- PASS ABCA8 10351 broad.mit.edu 37 17 66881394 66881394 + Silent SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:66881394G>T uc002jhp.2 - 25 3551 c.3372C>A c.(3370-3372)ATC>ATA p.I1124I ABCA8_uc002jhq.2_Silent_p.I1164I|ABCA8_uc010wqq.1_Silent_p.I1164I NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1124 Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) AAAAAGTGAAGATAAATGGAA 0.373 13 50 --- --- --- --- PASS SLC16A5 9121 broad.mit.edu 37 17 73096607 73096607 + Silent SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:73096607C>T uc002jmr.2 + 5 1221 c.849C>T c.(847-849)AGC>AGT p.S283S SLC16A5_uc002jms.1_Silent_p.S283S|SLC16A5_uc002jmt.2_Silent_p.S283S|SLC16A5_uc002jmu.2_Silent_p.S283S|SLC16A5_uc010wrt.1_Silent_p.S323S NM_004695 NP_004686 O15375 MOT6_HUMAN solute carrier family 16, member 5 283 Helical; (Potential). organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) TCGGCTTCAGCAACATCTTCC 0.617 84 220 --- --- --- --- PASS RPTOR 57521 broad.mit.edu 37 17 78921039 78921039 + Nonsense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr17:78921039G>A uc002jyt.1 + 27 3958 c.3153G>A c.(3151-3153)TGG>TGA p.W1051* RPTOR_uc010wug.1_Nonsense_Mutation_p.W893*|RPTOR_uc002jyu.1_5'Flank NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 1051 WD 1. cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 TTTGGGACTGGGAGAAAGGGG 0.353 8 24 --- --- --- --- PASS FAM38B 63895 broad.mit.edu 37 18 10696076 10696076 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr18:10696076C>T uc002kor.3 - 5 858 c.718G>A c.(718-720)GAG>AAG p.E240K FAM38B_uc002koq.2_Missense_Mutation_p.E138K NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2283 integral to membrane ion channel activity ovary(1) 1 CCTTACCTCTCAGTCACACCA 0.502 25 62 --- --- --- --- PASS KHSRP 8570 broad.mit.edu 37 19 6422370 6422370 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:6422370C>A uc002mer.3 - 2 437 c.327G>T c.(325-327)AAG>AAT p.K109N NM_003685 NP_003676 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 109 Gly-rich. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding skin(1) 1 CCAACTGTCTCTTTTGGCCCC 0.488 19 75 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9068085 9068085 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:9068085G>T uc002mkp.2 - 3 19565 c.19361C>A c.(19360-19362)GCG>GAG p.A6454E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6456 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGTGATGTCGCCCTATGAGG 0.498 25 128 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9578918 9578918 + Silent SNP A T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:9578918A>T uc002mlp.1 - 10 915 c.705T>A c.(703-705)ACT>ACA p.T235T ZNF560_uc010dwr.1_Silent_p.T129T NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CTCTATTTTGAGTACTCATGT 0.378 13 53 --- --- --- --- PASS CCDC151 115948 broad.mit.edu 37 19 11545644 11545644 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:11545644G>T uc002mrs.2 - 1 337 c.194C>A c.(193-195)CCC>CAC p.P65H CCDC151_uc010dxz.2_Missense_Mutation_p.P65H|PRKCSH_uc002mrt.2_5'Flank|PRKCSH_uc002mru.2_5'Flank|PRKCSH_uc010xlz.1_5'Flank|PRKCSH_uc010dya.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.2_5'Flank NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 65 ovary(1) 1 GTGCACAGAGGGCTTCCCTGC 0.587 OREG0025257 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 79 --- --- --- --- PASS HOOK2 29911 broad.mit.edu 37 19 12876760 12876760 + Missense_Mutation SNP T A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:12876760T>A uc002muy.2 - 16 1751 c.1580A>T c.(1579-1581)CAG>CTG p.Q527L HOOK2_uc010xmq.1_5'UTR|HOOK2_uc002muz.2_Missense_Mutation_p.Q527L NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 527 Sufficient for interaction with microtubules.|Potential. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 CTTGCCCCCCTGCTCCTGCAG 0.652 OREG0025273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 34 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13476130 13476130 + Splice_Site SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:13476130C>T uc010dze.2 - 5 1020 c.784_splice c.e5+1 p.D262_splice CACNA1A_uc002mwy.3_Splice_Site_p.D262_splice NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGTGGACCTACCTGTCCCCTC 0.463 22 86 --- --- --- --- PASS ZNF14 7561 broad.mit.edu 37 19 19823724 19823724 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:19823724C>G uc002nnk.1 - 4 520 c.366G>C c.(364-366)ATG>ATC p.M122I NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 122 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) TGTGAGATCTCATGTGCCTAT 0.383 13 82 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22157371 22157371 + Missense_Mutation SNP A T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:22157371A>T uc002nqp.2 - 4 614 c.465T>A c.(463-465)CAT>CAA p.H155Q ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGAACATTTATGAAAGACAT 0.333 11 62 --- --- --- --- PASS ZNF681 148213 broad.mit.edu 37 19 23927115 23927115 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:23927115T>C uc002nrk.3 - 4 1379 c.1237A>G c.(1237-1239)AAG>GAG p.K413E ZNF681_uc002nrl.3_Missense_Mutation_p.K344E|ZNF681_uc002nrj.3_Missense_Mutation_p.K344E NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 413 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TGAATGCTCTTATGTCTAGTA 0.368 20 50 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039116 31039116 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:31039116C>A uc002nsu.1 + 4 2728 c.2590C>A c.(2590-2592)CTC>ATC p.L864I ZNF536_uc010edd.1_Missense_Mutation_p.L864I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 864 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) ATCAGGGGTTCTCTCCTCTGG 0.582 5 83 --- --- --- --- PASS ZNF790 388536 broad.mit.edu 37 19 37310031 37310031 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:37310031C>G uc002oew.2 - 5 1334 c.1215G>C c.(1213-1215)TGG>TGC p.W405C uc002oev.1_Intron NM_206894 NP_996777 Q6PG37 ZN790_HUMAN zinc finger protein 790 405 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGTGTGAGCTCCAAATATAGG 0.413 11 69 --- --- --- --- PASS TMEM145 284339 broad.mit.edu 37 19 42818838 42818838 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:42818838G>T uc002otk.1 + 4 399 c.347G>T c.(346-348)TGG>TTG p.W116L NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 116 integral to membrane 0 Prostate(69;0.00682) CAGTATGCCTGGTCCGGCTGT 0.617 9 76 --- --- --- --- PASS PSG1 5669 broad.mit.edu 37 19 43382240 43382240 + Missense_Mutation SNP G T T rs1058959 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:43382240G>T uc002ovb.2 - 2 393 c.255C>A c.(253-255)GAC>GAA p.D85E PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.D85E|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.D85E|PSG1_uc010eio.1_Missense_Mutation_p.D85E|PSG1_uc002oux.1_Missense_Mutation_p.D14E|PSG1_uc002ouy.1_Missense_Mutation_p.D85E|PSG1_uc002ouz.1_Missense_Mutation_p.D85E|PSG1_uc002ova.1_Missense_Mutation_p.D85E|PSG1_uc002ovc.2_Missense_Mutation_p.D85E|PSG1_uc002ovd.1_Missense_Mutation_p.D85E NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 85 Ig-like V-type. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) TTATTTCACCGTCTACTACAT 0.448 53 186 --- --- --- --- PASS PSG6 5675 broad.mit.edu 37 19 43414888 43414888 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:43414888G>C uc002ovj.1 - 3 602 c.550C>G c.(550-552)CAG>GAG p.Q184E PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.Q191E|PSG6_uc002ovi.2_Missense_Mutation_p.Q185E|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.Q184E|PSG6_uc002ovg.1_Missense_Mutation_p.Q184E NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 184 Ig-like C2-type 1. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) GGGAGGTTCTGACCATTCAGC 0.498 49 156 --- --- --- --- PASS PSG4 5672 broad.mit.edu 37 19 43699169 43699169 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:43699169G>A uc002ovy.2 - 4 1068 c.966C>T c.(964-966)GAC>GAT p.D322D PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.D229D|PSG4_uc002ovz.2_Intron NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 322 Ig-like C2-type 2. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) GGGTGACTGGGTCACTGCGGA 0.488 36 123 --- --- --- --- PASS TEX101 83639 broad.mit.edu 37 19 43922108 43922108 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:43922108G>T uc010xwo.1 + 5 665 c.470G>T c.(469-471)TGT>TTT p.C157F TEX101_uc002owk.2_Missense_Mutation_p.C175F NM_001130011 NP_001123483 Q9BY14 TX101_HUMAN testis expressed 101 isoform 2 157 C -> Y (in Ref. 1; AAK28327). anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) TCTCTTCCCTGTCCCAATGGT 0.463 20 85 --- --- --- --- PASS MARK4 57787 broad.mit.edu 37 19 45781203 45781203 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:45781203G>C uc002pbb.1 + 9 814 c.809G>C c.(808-810)AGA>ACA p.R270T MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Missense_Mutation_p.R270T|MARK4_uc002pbc.1_Missense_Mutation_p.R136T Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 270 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CGAGTACTCAGAGGGAAGTAC 0.507 4 35 --- --- --- --- PASS IGFL3 388555 broad.mit.edu 37 19 46627176 46627176 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:46627176C>T uc002pea.1 - 3 342 c.317G>A c.(316-318)TGT>TAT p.C106Y NM_207393 NP_997276 Q6UXB1 IGFL3_HUMAN IGF-like family member 3 precursor 106 extracellular region protein binding 0 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) AGATAAGTGACACTGAGACTT 0.517 73 196 --- --- --- --- PASS HIF3A 64344 broad.mit.edu 37 19 46811522 46811522 + Nonsense_Mutation SNP T A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:46811522T>A uc002peh.2 + 4 437 c.408T>A c.(406-408)TGT>TGA p.C136* HIF3A_uc002pef.1_Nonsense_Mutation_p.C136*|HIF3A_uc002peg.3_Nonsense_Mutation_p.C136*|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Nonsense_Mutation_p.C80*|HIF3A_uc002pej.1_Nonsense_Mutation_p.C67*|HIF3A_uc002pek.2_Nonsense_Mutation_p.C80*|HIF3A_uc010xxy.1_Nonsense_Mutation_p.C67*|HIF3A_uc002pel.2_Nonsense_Mutation_p.C134*|HIF3A_uc010xxz.1_Nonsense_Mutation_p.C85* NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 136 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TCCACCCCTGTGACCAAGAGG 0.502 26 76 --- --- --- --- PASS TEAD2 8463 broad.mit.edu 37 19 49846557 49846557 + Silent SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:49846557C>G uc002pnj.2 - 10 1099 c.1008G>C c.(1006-1008)CTG>CTC p.L336L uc002pnb.1_5'Flank|TEAD2_uc002png.2_Silent_p.L339L|TEAD2_uc002pnh.2_Silent_p.L340L|TEAD2_uc002pni.2_Silent_p.L339L|TEAD2_uc010yao.1_Silent_p.L208L|TEAD2_uc010emw.2_Silent_p.L339L NM_003598 NP_003589 Q15562 TEAD2_HUMAN TEA domain family member 2 336 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) TCATGTGTTCCAGGCTCTCAT 0.617 10 46 --- --- --- --- PASS SIGLEC9 27180 broad.mit.edu 37 19 51628650 51628650 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:51628650C>A uc002pvu.2 + 1 486 c.419C>A c.(418-420)ACA>AAA p.T140K SIGLEC9_uc010yct.1_Missense_Mutation_p.T140K NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 140 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GTGAATGTGACAGGTAAGGCA 0.532 7 24 --- --- --- --- PASS ZNF28 7576 broad.mit.edu 37 19 53303738 53303738 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:53303738G>A uc002qad.2 - 4 1480 c.1360C>T c.(1360-1362)CTT>TTT p.L454F ZNF28_uc002qac.2_Missense_Mutation_p.L401F|ZNF28_uc010eqe.2_Missense_Mutation_p.L400F NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 454 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGGCGTGCAAGAGTTGATTGT 0.373 25 83 --- --- --- --- PASS CNOT3 4849 broad.mit.edu 37 19 54649754 54649754 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:54649754C>T uc002qdj.1 + 9 1123 c.812C>T c.(811-813)CCG>CTG p.P271L CNOT3_uc010yel.1_Missense_Mutation_p.P271L|CNOT3_uc002qdi.2_Missense_Mutation_p.P184L|CNOT3_uc002qdk.1_Missense_Mutation_p.P271L|CNOT3_uc010ere.1_RNA NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 271 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCTCCCATCCCGCCCAGCCCA 0.622 12 32 --- --- --- --- PASS TTYH1 57348 broad.mit.edu 37 19 54930341 54930341 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:54930341G>T uc002qfq.2 + 2 258 c.166G>T c.(166-168)GGC>TGC p.G56C TTYH1_uc010yey.1_Missense_Mutation_p.G105C|TTYH1_uc002qfr.2_Missense_Mutation_p.G56C|TTYH1_uc002qft.2_Missense_Mutation_p.G56C|TTYH1_uc002qfu.1_5'Flank NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 56 Helical; Name=1; (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) CCTGGGCTTGGGCCTGAGCCT 0.682 16 36 --- --- --- --- PASS SYT5 6861 broad.mit.edu 37 19 55687076 55687076 + Splice_Site SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:55687076C>T uc002qjm.1 - 4 1600 c.540_splice c.e4+1 p.K180_splice SYT5_uc002qjp.2_Splice_Site_p.K177_splice|SYT5_uc002qjn.1_Splice_Site_p.K180_splice|SYT5_uc002qjo.1_Splice_Site_p.K180_splice NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CAGGAGCTCACCTTGAAGGCG 0.627 17 49 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56388478 56388478 + Missense_Mutation SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:56388478T>C uc002qmd.3 + 8 3064 c.2642T>C c.(2641-2643)GTG>GCG p.V881A NLRP4_uc002qmf.2_Missense_Mutation_p.V806A|NLRP4_uc010etf.2_Missense_Mutation_p.V656A NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 881 LRR 6. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GATGTGGGTGTGCAGCTGTTG 0.502 22 56 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57642755 57642755 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:57642755G>T uc002qny.2 + 4 3068 c.2712G>T c.(2710-2712)CAG>CAT p.Q904H NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 904 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTAGCACACAGGCAGGGGTGA 0.493 17 59 --- --- --- --- PASS ZIM3 114026 broad.mit.edu 37 19 57646494 57646494 + Nonsense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:57646494G>C uc002qnz.1 - 5 1597 c.1211C>G c.(1210-1212)TCA>TGA p.S404* NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 404 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATGAAGGTTTGACTTCTGAAA 0.378 13 128 --- --- --- --- PASS ZNF548 147694 broad.mit.edu 37 19 57911091 57911091 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:57911091G>A uc002qom.2 + 3 1686 c.1436G>A c.(1435-1437)TGC>TAC p.C479Y ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.C482Y NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 479 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCTTATGAGTGCAGCGAATGC 0.468 24 87 --- --- --- --- PASS ZSCAN4 201516 broad.mit.edu 37 19 58190146 58190146 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:58190146G>T uc002qpu.2 + 5 1872 c.1175G>T c.(1174-1176)GGA>GTA p.G392V NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 392 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCCACACAGGAGAAAAGCCT 0.453 40 108 --- --- --- --- PASS ZNF135 7694 broad.mit.edu 37 19 58578819 58578819 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:58578819G>A uc010yhq.1 + 5 1099 c.1003G>A c.(1003-1005)GAG>AAG p.E335K ZNF135_uc002qre.2_Missense_Mutation_p.E323K|ZNF135_uc002qrd.1_Missense_Mutation_p.E281K|ZNF135_uc002qrf.2_Missense_Mutation_p.E281K|ZNF135_uc002qrg.2_Missense_Mutation_p.E293K|ZNF135_uc010yhr.1_Missense_Mutation_p.E144K NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 335 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) TCACACAGGCGAGAAGCCCTA 0.542 13 69 --- --- --- --- PASS GNAS 2778 broad.mit.edu 37 20 57484238 57484238 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr20:57484238G>A uc002xzw.2 + 7 2766 c.2481G>A c.(2479-2481)GTG>GTA p.V827V GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.V125V|GNAS_uc002xzx.2_Silent_p.V125V|GNAS_uc010gjr.2_Silent_p.V75V|GNAS_uc002xzy.2_Silent_p.V110V|GNAS_uc002yaa.2_Silent_p.V170V|GNAS_uc010zzt.1_Silent_p.V185V|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.V75V|GNAS_uc002yae.2_Silent_p.V109V NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 184 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AGATCGACGTGATCAAGCAGG 0.507 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 73 147 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19666726 19666726 + Missense_Mutation SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr21:19666726G>A uc002ykw.2 - 21 2378 c.2347C>T c.(2347-2349)CCA>TCA p.P783S NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 783 Extracellular (Potential). proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 ACAATCTTTGGGGTGATGTCT 0.458 18 64 --- --- --- --- PASS DOPEY2 9980 broad.mit.edu 37 21 37610953 37610953 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr21:37610953G>C uc002yvg.2 + 17 2909 c.2830G>C c.(2830-2832)GAG>CAG p.E944Q DOPEY2_uc011aeb.1_Missense_Mutation_p.E893Q NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 944 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TCTGACAAGAGAGATCCAAGG 0.473 8 30 --- --- --- --- PASS GGT1 2678 broad.mit.edu 37 22 25007072 25007072 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr22:25007072G>A uc003aan.1 + 5 511 c.24G>A c.(22-24)CTG>CTA p.L8L GGT1_uc003aas.1_Silent_p.L8L|GGT1_uc003aat.1_Silent_p.L8L|GGT1_uc003aau.1_Silent_p.L8L|GGT1_uc003aav.1_Silent_p.L8L|GGT1_uc003aaw.1_Silent_p.L8L|GGT1_uc003aax.1_Silent_p.L8L NM_013430 NP_038347 P19440 GGT1_HUMAN gamma-glutamyltransferase 1 precursor 8 Helical; Signal-anchor for type II membrane protein; (Probable). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding 0 Glutathione(DB00143) TAGTGGTGCTGGGCCTGCTGG 0.617 5 9 --- --- --- --- PASS MN1 4330 broad.mit.edu 37 22 28195045 28195045 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr22:28195045C>T uc003adj.2 - 1 2442 c.1487G>A c.(1486-1488)GGC>GAC p.G496D NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 496 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 TGTGAACTCGCCGGGTAGGCC 0.617 T ETV6 AML|meningioma 4 12 --- --- --- --- PASS TOM1 10043 broad.mit.edu 37 22 35713920 35713920 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr22:35713920G>C uc003ann.2 + 2 228 c.103G>C c.(103-105)GAG>CAG p.E35Q TOM1_uc011ami.1_Missense_Mutation_p.E2Q|TOM1_uc011amj.1_5'UTR|TOM1_uc003ans.2_5'UTR|TOM1_uc011amk.1_Missense_Mutation_p.W13C|TOM1_uc003anp.2_Missense_Mutation_p.E35Q|TOM1_uc011aml.1_Missense_Mutation_p.E35Q|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.E35Q|TOM1_uc003anr.2_5'UTR NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 35 VHS. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 CCTCAACATGGAGATCTGCGA 0.582 10 35 --- --- --- --- PASS ELFN2 114794 broad.mit.edu 37 22 37770023 37770023 + Missense_Mutation SNP C T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr22:37770023C>T uc003asq.3 - 3 2338 c.1552G>A c.(1552-1554)GAG>AAG p.E518K NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 518 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) AGGTCATCCTCGGGCCGAGCC 0.627 10 16 --- --- --- --- PASS EFCAB6 64800 broad.mit.edu 37 22 43972302 43972302 + Missense_Mutation SNP T G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr22:43972302T>G uc003bdy.1 - 26 3510 c.3295A>C c.(3295-3297)AAG>CAG p.K1099Q EFCAB6_uc003bdz.1_Missense_Mutation_p.K947Q|EFCAB6_uc010gzi.1_Missense_Mutation_p.K947Q|EFCAB6_uc010gzj.1_Missense_Mutation_p.K325Q NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1099 EF-hand 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) CAGAAATCCTTAAGAACTTGT 0.313 16 30 --- --- --- --- PASS C22orf9 23313 broad.mit.edu 37 22 45607906 45607906 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr22:45607906G>T uc003bfx.1 - 2 213 c.147C>A c.(145-147)GAC>GAA p.D49E C22orf9_uc003bfv.1_Missense_Mutation_p.D58E|C22orf9_uc003bfw.1_Missense_Mutation_p.D54E|C22orf9_uc010gzx.2_Missense_Mutation_p.D31E NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b 49 protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) AAAGCATGTCGTCCTGCCGGG 0.617 10 9 --- --- --- --- PASS CD99 4267 broad.mit.edu 37 X 2640679 2640679 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:2640679G>C uc004cqm.2 + 6 448 c.274G>C c.(274-276)GAT>CAT p.D92H CD99_uc010nda.2_Missense_Mutation_p.D76H|CD99_uc004cqn.2_RNA|CD99_uc004cqo.2_Missense_Mutation_p.D92H NM_002414 NP_002405 P14209 CD99_HUMAN CD99 antigen isoform a precursor 92 Extracellular (Potential). cell adhesion cytoplasm|integral to plasma membrane skin(1) 1 TAGCTTTTCAGATGCTGACCT 0.438 30 92 --- --- --- --- PASS PNPLA4 8228 broad.mit.edu 37 X 7894053 7894053 + Silent SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:7894053G>A uc011mhq.1 - 2 270 c.108C>T c.(106-108)GTC>GTT p.V36V PNPLA4_uc011mhr.1_Silent_p.V36V|PNPLA4_uc011mhs.1_Intron NM_004650 NP_004641 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 36 Patatin. lipid catabolic process triglyceride lipase activity 0 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) CGAAGGCTTTGACATCCTTCA 0.463 OREG0019651 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 13 --- --- --- --- PASS TAB3 257397 broad.mit.edu 37 X 30872850 30872850 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:30872850A>G uc004dcj.2 - 6 1595 c.932T>C c.(931-933)GTG>GCG p.V311A TAB3_uc004dck.2_Missense_Mutation_p.V311A|TAB3_uc010ngl.2_Missense_Mutation_p.V311A NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 311 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor 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 cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 GGAAGGTTGCACTTGATGCTG 0.498 8 20 --- --- --- --- PASS KDM6A 7403 broad.mit.edu 37 X 44936072 44936072 + Splice_Site SNP G A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:44936072G>A uc004dge.3 + 18 3207 c.2832_splice c.e18+1 p.Y944_splice KDM6A_uc010nhk.2_Splice_Site_p.Y910_splice|KDM6A_uc011mkz.1_Splice_Site_p.Y996_splice|KDM6A_uc011mla.1_Splice_Site_p.Y899_splice|KDM6A_uc011mlb.1_Splice_Site_p.Y951_splice|KDM6A_uc011mlc.1_Splice_Site_p.Y648_splice|KDM6A_uc011mld.1_Splice_Site_p.Y583_splice NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAGTATTTACGTGAGTCTGAA 0.383 D|N|F|S renal|oesophageal SCC|MM 26 28 --- --- --- --- PASS RBM10 8241 broad.mit.edu 37 X 47044725 47044725 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:47044725A>G uc004dhf.2 + 19 2504 c.2125A>G c.(2125-2127)ACC>GCC p.T709A RBM10_uc004dhg.2_Missense_Mutation_p.T631A|RBM10_uc004dhh.2_Missense_Mutation_p.T708A|RBM10_uc010nhq.2_Missense_Mutation_p.T632A|RBM10_uc004dhi.2_Missense_Mutation_p.T774A NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 709 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 GAGACAGCACACCAGCATGGA 0.632 7 4 --- --- --- --- PASS KDM5C 8242 broad.mit.edu 37 X 53231062 53231062 + Missense_Mutation SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:53231062C>A uc004drz.2 - 13 2373 c.1840G>T c.(1840-1842)GCT>TCT p.A614S KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.A547S|KDM5C_uc004dsa.2_Missense_Mutation_p.A613S NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 614 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 AAGTTGACAGCCTCGGCAAAG 0.547 N|F|S clear cell renal carcinoma 15 18 --- --- --- --- PASS CYSLTR1 10800 broad.mit.edu 37 X 77528293 77528293 + Silent SNP C A A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:77528293C>A uc004edb.2 - 3 1351 c.951G>T c.(949-951)GTG>GTT p.V317V CYSLTR1_uc010nma.2_Silent_p.V317V|CYSLTR1_uc010nmb.2_Silent_p.V317V NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 317 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity ovary(1) 1 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) GTACATAAGTCACGCTGGACA 0.388 5 15 --- --- --- --- PASS TEX13A 56157 broad.mit.edu 37 X 104464811 104464811 + Missense_Mutation SNP G C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:104464811G>C uc004ema.2 - 2 383 c.271C>G c.(271-273)CGG>GGG p.R91G IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.R91G NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 91 intracellular zinc ion binding ovary(2) 2 TGCAGCCACCGCACCCTGTGC 0.627 4 10 --- --- --- --- PASS PRPS1 5631 broad.mit.edu 37 X 106885651 106885651 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:106885651G>T uc004ene.3 + 4 666 c.461G>T c.(460-462)TGG>TTG p.W154L PRPS1_uc010npg.2_Missense_Mutation_p.W121L|PRPS1_uc011msj.1_Intron NM_002764 NP_002755 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 154 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|large_intestine(1) 4 GTCCTAAAGTGGATAAGGGAG 0.428 4 56 --- --- --- --- PASS IL13RA1 3597 broad.mit.edu 37 X 117895230 117895230 + Missense_Mutation SNP C G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:117895230C>G uc004eqs.2 + 6 849 c.806C>G c.(805-807)ACT>AGT p.T269S IL13RA1_uc004eqr.1_Missense_Mutation_p.T269S|IL13RA1_uc004eqt.1_Missense_Mutation_p.T269S NM_001560 NP_001551 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 precursor 269 Extracellular (Potential). interleukin-13 receptor complex cytokine receptor activity 0 AACAGCCAAACTGAGACACAT 0.303 29 52 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118222757 118222757 + Silent SNP T C C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:118222757T>C uc004era.3 - 11 2436 c.2436A>G c.(2434-2436)CAA>CAG p.Q812Q NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 812 ovary(4)|skin(1) 5 AGAAGACTTCTTGTTCATCTT 0.488 15 12 --- --- --- --- PASS ARHGAP36 158763 broad.mit.edu 37 X 130215797 130215797 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:130215797A>G uc004evz.2 + 2 503 c.158A>G c.(157-159)CAC>CGC p.H53R ARHGAP36_uc004ewa.2_Missense_Mutation_p.H41R|ARHGAP36_uc004ewb.2_Missense_Mutation_p.H22R|ARHGAP36_uc004ewc.2_5'Flank NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 53 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 GTATCGATACACAGCCTCTCT 0.532 12 34 --- --- --- --- PASS MAGEC3 139081 broad.mit.edu 37 X 140985615 140985615 + Missense_Mutation SNP G T T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:140985615G>T uc011mwp.1 + 8 1929 c.1929G>T c.(1927-1929)GAG>GAT p.E643D MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 643 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCTGTCCTGAGTGATGTCTGA 0.532 17 23 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140996228 140996228 + Missense_Mutation SNP A G G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:140996228A>G uc004fbt.2 + 4 3324 c.3038A>G c.(3037-3039)TAT>TGT p.Y1013C MAGEC1_uc010nsl.1_Missense_Mutation_p.Y80C NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1013 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AAGGGCACCTATGCCTCTGAG 0.542 HNSCC(15;0.026) 35 39 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 3 129626087 129626088 + RNA DEL TG - - TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr3:129626087_129626088delTG uc003enb.1 + 3 c.1828_1829delTG Homo sapiens cDNA FLJ45897 fis, clone OCBBF3025131. tctatagttctgtgtgtgtgtg 0.005 4 2 --- --- --- --- PACSIN1 29993 broad.mit.edu 37 6 34500248 34500248 + Frame_Shift_Del DEL G - - TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr6:34500248delG uc003ojo.2 + 10 1482 c.1276delG c.(1276-1278)GGGfs p.G426fs PACSIN1_uc003ojp.2_Frame_Shift_Del_p.G426fs NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 426 SH3. endocytosis protein kinase activity 0 CTGGTGCCGTGGGCGGCTGGA 0.652 10 5 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139603731 139603731 + Frame_Shift_Del DEL G - - TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr8:139603731delG uc003yvd.2 - 64 5076 c.4629delC c.(4627-4629)GCCfs p.A1543fs COL22A1_uc011ljo.1_Frame_Shift_Del_p.A823fs NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1543 Pro-rich.|Gly-rich.|Collagen-like 15. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGTCACCTTTGGCTCCTCGCT 0.612 HNSCC(7;0.00092) 7 11 --- --- --- --- Unknown 0 broad.mit.edu 37 9 68412348 68412348 + RNA DEL A - - TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr9:68412348delA uc004aew.1 + 2 c.510delA uc004aex.2_5'Flank Homo sapiens cDNA, FLJ98602. GAGGGCAAAGAAACGTGGAAT 0.552 12 6 --- --- --- --- BCL8 606 broad.mit.edu 37 15 20871163 20871164 + RNA INS - AA AA rs142973274 TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr15:20871163_20871164insAA uc010tzd.1 - 4 c.1923_1924insTT Homo sapiens mRNA; cDNA DKFZp686P1536 (from clone DKFZp686P1536). 0 CTTATAGAGCCAGAGGCAAGTG 0.550 3 5 --- --- --- --- CD19 930 broad.mit.edu 37 16 28944602 28944602 + Frame_Shift_Del DEL C - - TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr16:28944602delC uc002drs.2 + 4 669 c.607delC c.(607-609)CCCfs p.P203fs uc010vct.1_Intron|CD19_uc010byo.1_Frame_Shift_Del_p.P203fs NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 203 Extracellular (Potential).|Ig-like C2-type 2. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 CTGTGGGGTACCCCCTGACTC 0.617 23 14 --- --- --- --- RASAL3 64926 broad.mit.edu 37 19 15564239 15564239 + Frame_Shift_Del DEL G - - TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:15564239delG uc002nbe.2 - 15 2435 c.2349delC c.(2347-2349)TCCfs p.S783fs RASAL3_uc002nbd.2_Frame_Shift_Del_p.S123fs|RASAL3_uc010eaa.1_Frame_Shift_Del_p.S271fs NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 783 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 ACTGGCTCTTGGAGATGAGAG 0.711 4 2 --- --- --- --- NLRP5 126206 broad.mit.edu 37 19 56539152 56539152 + Frame_Shift_Del DEL G - - TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chr19:56539152delG uc002qmj.2 + 7 1553 c.1553delG c.(1552-1554)CGCfs p.R518fs NLRP5_uc002qmi.2_Frame_Shift_Del_p.R499fs NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 518 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GTGGTCCGGCGCTGTCTCAAT 0.592 30 13 --- --- --- --- MMGT1 93380 broad.mit.edu 37 X 135053241 135053241 + Frame_Shift_Del DEL T - - TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx dd468431-2fa4-45ab-be1f-90671891c5c4 339dce49-88af-447d-926f-e386a031edfd g.chrX:135053241delT uc004ezi.1 - 2 408 c.108delA c.(106-108)AAAfs p.K36fs MMGT1_uc011mvw.1_Frame_Shift_Del_p.K101fs NM_173470 NP_775741 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 precursor 36 Lumenal (Potential). early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane magnesium ion transmembrane transporter activity 0 ATTCATCTTCTTTTTCTGTTA 0.284 32 38 --- --- --- ---