Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PRAMEF2 65122 broad.mit.edu 37 1 12920063 12920063 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:12920063A>G uc001aum.1 + 3 890 c.803A>G c.(802-804)CAC>CGC p.H268R NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 268 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGGCTGGAACACCTCCAGTTG 0.463 NA 17 74 0 0 0 0 NBPF1 55672 broad.mit.edu 37 1 16907242 16907243 + Missense_Mutation DNP GG GG TT TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:16907242_16907243GG>TT uc009vos.1 - 16 2476_2477 c.1588_1589CC>AA c.(1588-1590)CCA>AAA p.P530K NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P259K NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 530 NBPF 2. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAGGCTACCTGGGAGAATGTTT 0.421 NA 20 645 0 0 0 0 PADI2 11240 broad.mit.edu 37 1 17422438 17422438 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:17422438C>G uc001baf.2 - 4 459 c.377G>C c.(376-378)CGG>CCG p.R126P PADI2_uc010ocm.1_Missense_Mutation_p.R126P|PADI2_uc001bag.1_Missense_Mutation_p.R126P NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 126 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CACACCATCCCGGTCTGCGTC 0.612 NA 3 50 0 0 0 0 SFRS4 6429 broad.mit.edu 37 1 29475099 29475099 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:29475099G>T uc001bro.2 - 6 1681 c.1308C>A c.(1306-1308)ACC>ACA p.T436T SFRS4_uc010ofy.1_3'UTR NM_005626 NP_005617 Q08170 SRSF4_HUMAN splicing factor, arginine/serine-rich 4 436 Arg/Ser-rich (RS domain). TNQ -> RNE (in Ref. 1; AAA36649). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding 0 Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151) Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138) TCTCCTGATTGGTGCCAGCAT 0.522 NA 9 134 4.69e-08 1.04e-06 1 0 COL16A1 1307 broad.mit.edu 37 1 32165642 32165642 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:32165642C>T uc001btk.1 - 3 513 c.148G>A c.(148-150)GGC>AGC p.G50S COL16A1_uc001btj.1_5'Flank|COL16A1_uc001btl.3_Missense_Mutation_p.G50S NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 50 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GGGTGCTCACCAGTCACGTTG 0.572 NA 11 21 0 0 0 0 SPOCD1 90853 broad.mit.edu 37 1 32264059 32264059 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:32264059C>T uc001bts.1 - 8 2070 c.2012G>A c.(2011-2013)CGG>CAG p.R671Q SPOCD1_uc001btt.2_5'UTR|SPOCD1_uc001btu.2_Missense_Mutation_p.R671Q|SPOCD1_uc001btv.2_Missense_Mutation_p.R164Q|SPOCD1_uc001btw.1_5'UTR NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 671 TFIIS central. R -> W (in a breast cancer sample; somatic mutation). transcription, DNA-dependent p.R671W(1) ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCTGGGGTCCCGCAGGTTGAA 0.617 NA 12 21 0 0 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564902 47564902 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:47564902A>G uc001cqu.1 + 8 1016 c.1013A>G c.(1012-1014)CAG>CGG p.Q338R NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 338 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 GAGCATCAGCAGAGATGCCGA 0.458 NA 3 35 0 0 0 0 MCOLN2 255231 broad.mit.edu 37 1 85395292 85395292 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:85395292T>A uc001dkm.2 - 13 1854 c.1613A>T c.(1612-1614)GAG>GTG p.E538V MCOLN2_uc001dkn.2_RNA NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 538 integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TTTCTGATACTCTTCTTTGCT 0.438 NA 5 20 0 0 0 0 CCBL2 56267 broad.mit.edu 37 1 89426943 89426943 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:89426943T>C uc001dmp.2 - 8 1071 c.694A>G c.(694-696)ATT>GTT p.I232V CCBL2_uc001dmq.2_Missense_Mutation_p.I198V|CCBL2_uc001dmr.2_Missense_Mutation_p.I68V NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 232 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGGTCAGCAATTACTTGCAGT 0.363 NA 17 85 0 0 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454676 114454676 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:114454676A>G uc001eeg.2 + 4 1633 c.1462A>G c.(1462-1464)AAG>GAG p.K488E DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.2_Missense_Mutation_p.K362E NM_022836 NP_073747 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B (PSO2 homolog, S. 488 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding 0 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCACAGCAGCAAGGGCACCCC 0.532 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 11 30 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:145302714A>G uc001end.3 + 8 1187 c.1152A>G c.(1150-1152)TTA>TTG p.L384L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527 NA 5 26 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152277266 152277266 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:152277266G>C uc001ezu.1 - 3 10132 c.10096C>G c.(10096-10098)CAG>GAG p.Q3366E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3366 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTGGCTCTGCTGATGGGGC 0.582 NA Ichthyosis 25 177 0 0 0 0 LCE1C 353133 broad.mit.edu 37 1 152777761 152777761 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:152777761C>A uc001fap.1 - 2 245 c.194G>T c.(193-195)GGG>GTG p.G65V NM_178351 NP_848128 Q5T751 LCE1C_HUMAN late cornified envelope 1C 65 Gly-rich. keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCAGCATCCCCCAGAGCTGGA 0.617 NA 7 42 2.01e-06 4.26e-05 1 0 FAM5B 57795 broad.mit.edu 37 1 177250578 177250578 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:177250578G>T uc001glf.2 + 8 2578 c.2266G>T c.(2266-2268)GTG>TTG p.V756L FAM5B_uc001glg.2_Missense_Mutation_p.V651L NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 756 extracellular region p.V756M(1) skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CAACAATGAGGTGGGCAGGAT 0.557 NA 5 42 1.02e-07 2.26e-06 1 0 RGL1 23179 broad.mit.edu 37 1 183895366 183895366 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:183895366G>A uc001gqo.2 + 18 2404 c.2247G>A c.(2245-2247)ACG>ACA p.T749T RGL1_uc001gqm.2_Silent_p.T784T|RGL1_uc010pog.1_Silent_p.T747T|RGL1_uc010poh.1_Silent_p.T747T|RGL1_uc010poi.1_Silent_p.T720T NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 749 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 CCAGCTTGACGTTGCCCAGGA 0.502 NA 23 32 0 0 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186839595 186839595 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:186839595C>T uc001gsc.2 + 3 267 c.62C>T c.(61-63)ACG>ATG p.T21M PLA2G4A_uc010pos.1_Missense_Mutation_p.T21M NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 21 C2.|Phospholipid binding (Probable). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) CACAAGTTTACGGTAGTGGTG 0.383 NA 9 29 0 0 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186915840 186915840 + Nonsense_Mutation SNP G G T rs77939449 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:186915840G>T uc001gsc.2 + 11 1310 c.1105G>T c.(1105-1107)GGA>TGA p.G369* PLA2G4A_uc010pos.1_Nonsense_Mutation_p.G309* NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 369 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) CGACTTATTTGGAAGCAAATT 0.328 NA 10 101 9.31e-06 0.00019321 1 0 CRB1 23418 broad.mit.edu 37 1 197316484 197316484 + Missense_Mutation SNP G G A rs148240351 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:197316484G>A uc001gtz.2 + 4 998 c.863G>A c.(862-864)TGC>TAC p.C288Y CRB1_uc010poz.1_Missense_Mutation_p.C219Y|CRB1_uc001gty.1_Missense_Mutation_p.C288Y|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Missense_Mutation_p.C288Y|CRB1_uc010ppc.1_RNA NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 288 Extracellular (Potential).|EGF-like 7; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AGCTGTAACTGCACGGGTAGT 0.388 NA 18 131 0 0 0 0 WDR26 80232 broad.mit.edu 37 1 224607315 224607315 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:224607315T>C uc001hop.3 - 5 692 c.326A>G c.(325-327)TAT>TGT p.Y109C WDR26_uc001hoq.3_Missense_Mutation_p.Y93C|WDR26_uc009xei.1_Missense_Mutation_p.Y93C NM_025160 NP_079436 Q9H7D7 WDR26_HUMAN WD repeat domain 26 isoform a 256 cytoplasm|nucleus 0 GBM - Glioblastoma multiforme(131;0.0104) ACACATCAGATACCTAAAAAT 0.378 NA 37 33 0 0 0 0 ARID4B 51742 broad.mit.edu 37 1 235346105 235346105 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:235346105G>A uc001hwq.2 - 20 2627 c.2129C>T c.(2128-2130)TCT>TTT p.S710F ARID4B_uc001hwr.2_Missense_Mutation_p.S624F|ARID4B_uc001hws.3_Missense_Mutation_p.S624F|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.S391F NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 710 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) AGAACTTTCAGAAGCTAGAAA 0.373 NA 16 71 0 0 0 0 ADSS 159 broad.mit.edu 37 1 244574694 244574694 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:244574694G>T uc001iaj.2 - 12 1507 c.1213C>A c.(1213-1215)CTC>ATC p.L405I NM_001126 NP_001117 P30520 PURA2_HUMAN adenylosuccinate synthase 405 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(2)|kidney(1) 3 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) CATCCTGGGAGAGTCTTATAT 0.343 NA 20 133 1.28e-07 2.79e-06 1 0 OR11L1 391189 broad.mit.edu 37 1 248004731 248004731 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:248004731G>A uc001idn.1 - 1 468 c.468C>T c.(466-468)GGC>GGT p.G156G NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAGGCAGAAAGCCTGTGCTGA 0.577 NA 11 48 0 0 0 0 OR2M5 127059 broad.mit.edu 37 1 248308964 248308965 + Missense_Mutation DNP GG GG TT TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:248308964_248308965GG>TT uc010pze.1 + 1 515_516 c.515_516GG>TT c.(514-516)CGG>CTT p.R172L NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 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;0.0388) TGTGGGTCTCGGGAAATAGCCC 0.426 NA 13 191 0 0 0 0 OR2T4 127074 broad.mit.edu 37 1 248525876 248525876 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:248525876G>C uc001ieh.1 + 1 994 c.994G>C c.(994-996)GCT>CCT p.A332P NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 332 Cytoplasmic (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) TGTCATGGGGGCTCTGAAGAA 0.413 NA 25 109 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16870832 16870832 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:16870832G>A uc001ioo.2 - 66 10788 c.10736C>T c.(10735-10737)TCT>TTT p.S3579F NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3579 CUB 27. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGAGGATGGAGAGCTGGCGTT 0.433 NA OREG0020047 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 37 0 0 0 0 FRMPD2 143162 broad.mit.edu 37 10 49409355 49409355 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:49409355T>A uc001jgi.2 - 15 1977 c.1870A>T c.(1870-1872)AGT>TGT p.S624C FRMPD2_uc001jgh.2_Missense_Mutation_p.S592C|FRMPD2_uc001jgj.2_Missense_Mutation_p.S602C NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 624 FERM. S -> G (in Ref. 3; CAH18097). tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) AAGTATTTACTGGTCTTGGCT 0.448 NA 9 73 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108469071 108469072 + Missense_Mutation DNP CT CT AG TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:108469071_108469072CT>AG uc001kym.2 - 7 1060_1061 c.1052_1053AG>CT c.(1051-1053)CAG>CCT p.Q351P SORCS1_uc001kyl.2_Missense_Mutation_p.Q351P|SORCS1_uc009xxs.2_Missense_Mutation_p.Q351P|SORCS1_uc001kyn.1_Missense_Mutation_p.Q351P|SORCS1_uc001kyo.2_Missense_Mutation_p.Q351P NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 351 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) CTGTACAGTTCTGCATTCGGCA 0.386 NA 16 56 0 0 0 0 TIAL1 7073 broad.mit.edu 37 10 121336173 121336173 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:121336173C>T uc001lei.1 - 11 1515 c.951G>A c.(949-951)CCG>CCA p.P317P TIAL1_uc001leh.1_Silent_p.P295P|TIAL1_uc001lej.1_Silent_p.P334P|TIAL1_uc001lek.1_Silent_p.P194P|TIAL1_uc009xzi.1_Silent_p.P186P|TIAL1_uc010qtb.1_3'UTR NM_003252 NP_003243 Q01085 TIAR_HUMAN TIA-1 related protein isoform 1 317 apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) CTCCATAAGGCGGTACTTGCC 0.428 NA 26 103 0 0 0 0 NUP98 4928 broad.mit.edu 37 11 3726504 3726504 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:3726504G>A uc001lyh.2 - 22 3299 c.3008C>T c.(3007-3009)GCA>GTA p.A1003V NUP98_uc001lyi.2_Missense_Mutation_p.A1003V|NUP98_uc001lyg.2_Missense_Mutation_p.A71V NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1020 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AGAAGTATCTGCTTTGGAAGG 0.413 NA T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 26 62 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22279232 22279232 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:22279232G>A uc001mqi.2 + 14 1656 c.1339G>A c.(1339-1341)GAA>AAA p.E447K ANO5_uc001mqj.2_Missense_Mutation_p.E446K NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 447 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 ACAGGAGATGGAACCTTACAT 0.378 NA 26 39 0 0 0 0 OR5B12 390191 broad.mit.edu 37 11 58206944 58206944 + Silent SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:58206944G>C uc010rkh.1 - 1 681 c.681C>G c.(679-681)CGC>CGG p.R227R NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTTCAGGTGAGCGCATCTTCA 0.398 NA 3 45 0 0 0 0 OR4D11 219986 broad.mit.edu 37 11 59271552 59271552 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:59271552C>A uc001noa.1 + 1 504 c.504C>A c.(502-504)TTC>TTA p.F168L NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTCTCCCTTTCTGTGGACCCA 0.512 NA 19 80 1.4e-16 3.22e-15 1 0 AHNAK 79026 broad.mit.edu 37 11 62297926 62297926 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:62297926G>T uc001ntl.2 - 5 4263 c.3963C>A c.(3961-3963)CCC>CCA p.P1321P AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1321 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGAGATCTTGGGGGCCTTGA 0.517 NA 33 80 1.03e-13 2.37e-12 1 0 MACROD1 28992 broad.mit.edu 37 11 63919857 63919857 + Missense_Mutation SNP T T G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:63919857T>G uc001nyh.2 - 2 426 c.307A>C c.(307-309)AAG>CAG p.K103Q NM_014067 NP_054786 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 103 0 CTCAGGCCCTTCAGAAAGGCT 0.567 NA 13 47 0 0 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810581 65810581 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:65810581C>T uc001ogv.2 - 2 853 c.693G>A c.(691-693)GTG>GTA p.V231V GAL3ST3_uc001ogw.2_Silent_p.V231V NM_033036 NP_149025 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 231 Lumenal (Potential). monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(1) 1 AAACCTCCTCCACCTGGCGGA 0.662 NA 6 27 0 0 0 0 DHCR7 1717 broad.mit.edu 37 11 71146483 71146483 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:71146483C>T uc001oqk.2 - 9 1616 c.1366G>A c.(1366-1368)GGC>AGC p.G456S DHCR7_uc001oql.2_Missense_Mutation_p.G456S NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 456 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) CAGTCCCGGCCGTACTTGCTG 0.657 NA Smith-Lemli-Opitz_syndrome 10 29 0 0 0 0 SLC35F2 54733 broad.mit.edu 37 11 107682478 107682478 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:107682478T>A uc001pjq.2 - 3 750 c.329A>T c.(328-330)AAG>ATG p.K110M SLC35F2_uc010rvu.1_Translation_Start_Site|SLC35F2_uc001pjs.2_Missense_Mutation_p.K110M NM_017515 NP_059985 Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 110 Helical; (Potential). transport integral to membrane central_nervous_system(1) 1 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CAGGATGTACTTCCACCATTT 0.418 NA 33 122 0 0 0 0 PTS 5805 broad.mit.edu 37 11 112101363 112101363 + Silent SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:112101363G>C uc001pnj.3 + 4 280 c.201G>C c.(199-201)ACG>ACC p.T67T PTS_uc009yyo.2_RNA NM_000317 NP_000308 Q03393 PTPS_HUMAN 6-pyruvoyltetrahydropterin synthase 67 T -> M (in HPABH4A). cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process mitochondrion 6-pyruvoyltetrahydropterin synthase activity|metal ion binding 0 all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519) ACCCTGCTACGGGAATGGTTA 0.383 NA 3 77 0 0 0 0 APLP2 334 broad.mit.edu 37 11 129996669 129996669 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:129996669C>A uc010sby.1 + 8 1322 c.1165C>A c.(1165-1167)CGC>AGC p.R389S APLP2_uc001qfp.2_Missense_Mutation_p.R389S|APLP2_uc001qfq.2_Missense_Mutation_p.R333S|APLP2_uc010sbz.1_Missense_Mutation_p.R177S|APLP2_uc001qfr.2_Missense_Mutation_p.R155S|APLP2_uc001qfs.2_Missense_Mutation_p.R160S|APLP2_uc001qfv.2_Missense_Mutation_p.R280S NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 389 Extracellular (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TGAGCATGCTCGCTTCCAGAA 0.468 NA 7 104 0.000157383 0.0030423 1 0 SNX19 399979 broad.mit.edu 37 11 130785040 130785040 + Silent SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:130785040C>G uc001qgk.3 - 1 1343 c.795G>C c.(793-795)GTG>GTC p.V265V SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.V265V|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 265 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) AAAAGATACCCACGAGTACAA 0.552 NA 4 65 0 0 0 0 GALNT8 26290 broad.mit.edu 37 12 4835909 4835909 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:4835909G>C uc001qne.1 + 2 515 c.423G>C c.(421-423)CAG>CAC p.Q141H NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 141 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 AGGCGGCCCAGGACCTCTTCC 0.547 NA 4 21 0 0 0 0 LTBR 4055 broad.mit.edu 37 12 6495602 6495602 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:6495602A>G uc001qny.1 + 6 827 c.659A>G c.(658-660)GAG>GGG p.E220G LTBR_uc010sfc.1_Missense_Mutation_p.E201G|LTBR_uc001qnz.1_Missense_Mutation_p.E215G NM_002342 NP_002333 P36941 TNR3_HUMAN lymphotoxin beta receptor precursor 220 Extracellular (Potential). apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity lung(2) 2 CTGCCCCCAGAGATGTCAGGT 0.547 NA 6 7 0 0 0 0 PRH1 5554 broad.mit.edu 37 12 11035684 11035684 + Nonsense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:11035684C>A uc001qzc.2 - 6 664 c.76G>T c.(76-78)GAA>TAA p.E26* PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_RNA|PRB4_uc001qzf.1_Intron NM_006250 NP_006241 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 1 26 Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium. extracellular space protein binding 0 BRCA - Breast invasive adenocarcinoma(232;0.245) GGAACATCTTCCTGGCTGACA 0.398 NA 15 54 2.94e-08 6.55e-07 1 0 PRB3 5544 broad.mit.edu 37 12 11420146 11420146 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:11420146G>C uc001qzs.2 - 4 948 c.910C>G c.(910-912)CAG>GAG p.Q304E PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 304 Pro-rich. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGCTGTCCCTGGGGAGGTCTG 0.517 NA 14 30 0 0 0 0 LDHB 3945 broad.mit.edu 37 12 21788507 21788507 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:21788507C>A uc001rfc.2 - 7 992 c.974G>T c.(973-975)TGG>TTG p.W325L LDHB_uc001rfd.2_Missense_Mutation_p.W325L|LDHB_uc001rfe.2_Missense_Mutation_p.W325L NM_002300 NP_002291 P07195 LDHB_HUMAN L-lactate dehydrogenase B 325 W -> R (in LDHB deficiency). glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|ovary(1) 3 NADH(DB00157) CTGGATGTCCCACAGGGTATC 0.438 NA 8 144 0.000442599 0.00827283 1 0 C12orf35 55196 broad.mit.edu 37 12 32135423 32135423 + Nonsense_Mutation SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:32135423A>T uc001rks.2 + 4 1948 c.1534A>T c.(1534-1536)AAG>TAG p.K512* NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 512 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) CTATTCTGAAAAGCGGCCAAT 0.388 NA 10 55 0 0 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966845 41966845 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:41966845C>A uc010skn.1 + 10 1735 c.1667C>A c.(1666-1668)TCC>TAC p.S556Y PDZRN4_uc001rmq.3_Missense_Mutation_p.S497Y|PDZRN4_uc009zjz.2_Missense_Mutation_p.S495Y|PDZRN4_uc001rmr.2_Missense_Mutation_p.S382Y NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 755 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GTAGACCGTTCCCCTGACAGT 0.498 NA 8 35 1.13e-05 0.000231687 1 0 COPZ1 22818 broad.mit.edu 37 12 54744287 54744287 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:54744287A>G uc001sfs.1 + 9 551 c.514A>G c.(514-516)AAG>GAG p.K172E COPZ1_uc001sft.2_Missense_Mutation_p.K121E|COPZ1_uc009znm.1_Missense_Mutation_p.K180E|COPZ1_uc010sot.1_Missense_Mutation_p.K149E NM_016057 NP_057141 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 172 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol 0 AGAACAGATCAAGTGGTCACT 0.493 NA 8 112 0 0 0 0 MON2 23041 broad.mit.edu 37 12 62938684 62938684 + Nonsense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:62938684C>T uc001sre.2 + 21 2864 c.2473C>T c.(2473-2475)CAG>TAG p.Q825* MON2_uc009zqj.2_Nonsense_Mutation_p.Q825*|MON2_uc010ssl.1_Nonsense_Mutation_p.Q753*|MON2_uc010ssm.1_Nonsense_Mutation_p.Q802*|MON2_uc010ssn.1_Nonsense_Mutation_p.Q825*|MON2_uc001srf.2_Nonsense_Mutation_p.Q588* NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 826 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TCAGGTCTGCCAGCATCCAAA 0.333 NA 12 40 0 0 0 0 GRIP1 23426 broad.mit.edu 37 12 66770984 66770984 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:66770984G>A uc001stk.2 - 20 2788 c.2547C>T c.(2545-2547)TGC>TGT p.C849C GRIP1_uc010sta.1_Silent_p.C793C|GRIP1_uc001stj.2_Silent_p.C631C|GRIP1_uc001stl.1_Silent_p.C741C|GRIP1_uc001stm.2_Silent_p.C849C NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 901 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CTGACTGTCCGCAGGTTTCCA 0.443 NA 37 166 0 0 0 0 C12orf26 84190 broad.mit.edu 37 12 82870447 82870447 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:82870447T>A uc001szq.2 + 10 1618 c.1597T>A c.(1597-1599)TAC>AAC p.Y533N NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN hypothetical protein LOC84190 533 0 TATAATGAACTACTACGAGAA 0.284 NA 18 95 0 0 0 0 CRY1 1407 broad.mit.edu 37 12 107395137 107395137 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:107395137G>T uc001tmi.3 - 5 1464 c.605C>A c.(604-606)ACA>AAA p.T202K NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 202 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 TAAGCCATCTGTATCAAAACC 0.343 NA 5 73 0.000274275 0.00521276 1 0 SFRS8 6433 broad.mit.edu 37 12 132238982 132238982 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:132238982C>T uc001uja.1 + 9 1532 c.1392C>T c.(1390-1392)GCC>GCT p.A464A SFRS8_uc010tbn.1_Silent_p.A464A|SFRS8_uc001ujb.1_Silent_p.A257A|SFRS8_uc001uiz.1_Silent_p.A338A NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 464 SURP motif 2. mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) ACAAGCTGGCCGAGTATGTCG 0.557 NA 4 33 0 0 0 0 BRCA2 675 broad.mit.edu 37 13 32971100 32971100 + Silent SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr13:32971100C>A uc001uub.1 + 26 9794 c.9567C>A c.(9565-9567)CCC>CCA p.P3189P NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3189 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CAAATGATCCCAAGTGGTCCA 0.378 NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 10 192 0.00010058 0.00197235 1 0 POSTN 10631 broad.mit.edu 37 13 38138655 38138655 + Splice_Site SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr13:38138655C>T uc001uwo.3 - 22 2591 c.2473_splice c.e22+1 p.G825_splice POSTN_uc010tet.1_Splice_Site_p.G326_splice|POSTN_uc001uwp.3_Splice_Site_p.G768_splice|POSTN_uc001uwr.2_Splice_Site_p.G770_splice|POSTN_uc001uwq.2_Splice_Site_p.G740_splice NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AATACACTTACCTTGAACTTT 0.323 NA 28 96 0 0 0 0 SLC39A2 29986 broad.mit.edu 37 14 21469108 21469109 + Nonsense_Mutation DNP GG GG TT TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:21469108_21469109GG>TT uc001vyr.2 + 4 487_488 c.300_301GG>TT c.(298-303)ATGGAG>ATTTAG p.100_101ME>I* SLC39A2_uc001vys.2_Nonsense_Mutation_p.1_2ME>I* NM_014579 NP_055394 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), 100_101 Extracellular (Potential). cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity ovary(2)|central_nervous_system(1) 3 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) GTTTCTAGATGGAGTATCCCTA 0.47 NA 14 366 0 0 0 0 CHD8 57680 broad.mit.edu 37 14 21874023 21874023 + Nonsense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:21874023C>A uc001was.1 - 15 2165 c.2071G>T c.(2071-2073)GAA>TAA p.E691* CHD8_uc001war.1_Nonsense_Mutation_p.E587*|CHD8_uc001wav.1_Nonsense_Mutation_p.E133* NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 970 Helicase ATP-binding. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ACCTTGTGTTCCTAGAAATGG 0.333 NA 18 32 9.17e-09 2.06e-07 1 0 DHRS4L1 728635 broad.mit.edu 37 14 24511906 24511906 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:24511906C>T uc010alc.2 + 3 316 c.316C>T c.(316-318)CTT>TTT p.L106F DHRS4L1_uc010tnu.1_Intron NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 106 binding|oxidoreductase activity 0 GGCTATGAAGCTTCATGGAGT 0.408 NA 18 98 0 0 0 0 DDHD1 80821 broad.mit.edu 37 14 53527915 53527915 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:53527915T>C uc001xai.2 - 8 2001 c.1771A>G c.(1771-1773)AAG>GAG p.K591E DDHD1_uc001xaj.2_Missense_Mutation_p.K598E|DDHD1_uc001xah.2_Missense_Mutation_p.K591E|DDHD1_uc001xag.2_Missense_Mutation_p.K173E|DDHD1_uc001xak.1_5'UTR NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 isoform c 591 lipid catabolic process cytoplasm hydrolase activity|metal ion binding ovary(2) 2 Breast(41;0.037) TCTATTTCCTTCAGCCTAAGA 0.348 NA 15 79 0 0 0 0 SLC35F4 341880 broad.mit.edu 37 14 58060704 58060704 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:58060704C>A uc001xdb.1 - 2 350 c.350G>T c.(349-351)GGA>GTA p.G117V SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_5'UTR NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 TCCTGAGGATCCTTGGTTTTG 0.468 NA 7 35 0.000157383 0.0030423 1 0 SYNE2 23224 broad.mit.edu 37 14 64443439 64443439 + Missense_Mutation SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:64443439A>T uc001xgm.2 + 12 1517 c.1287A>T c.(1285-1287)TTA>TTT p.L429F SYNE2_uc001xgl.2_Missense_Mutation_p.L429F NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 429 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAATGACTTTATTCAAGGTTG 0.383 NA 14 142 0 0 0 0 GSC 145258 broad.mit.edu 37 14 95234883 95234883 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:95234883G>A uc001ydu.2 - 3 866 c.719C>T c.(718-720)GCG>GTG p.A240V NM_173849 NP_776248 P56915 GSC_HUMAN goosecoid 240 gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) CTCCGGTGACGCCTTCGACGA 0.572 NA 13 105 0 0 0 0 ATG2B 55102 broad.mit.edu 37 14 96772063 96772063 + Silent SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:96772063G>C uc001yfi.2 - 31 4961 c.4596C>G c.(4594-4596)ACC>ACG p.T1532T NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1532 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGCTCGTATCGGTCTTATTAA 0.403 NA 3 48 0 0 0 0 AK7 122481 broad.mit.edu 37 14 96864496 96864496 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:96864496C>A uc001yfn.2 + 2 234 c.190C>A c.(190-192)CTG>ATG p.L64M AK7_uc001yfm.1_Missense_Mutation_p.L64M NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 64 Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GTCAGCTATGCTGGAAGCTTC 0.488 NA 13 72 1.36e-06 2.91e-05 1 0 RAGE 5891 broad.mit.edu 37 14 102717262 102717262 + Silent SNP C C G rs142858806 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:102717262C>G uc001ylm.2 - 7 703 c.477G>C c.(475-477)ACG>ACC p.T159T RAGE_uc010txv.1_Silent_p.T129T|RAGE_uc001yln.2_5'UTR NM_014226 NP_055041 Q9UQ07 MOK_HUMAN MAPK/MAK/MRK overlapping kinase 159 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 AGATGTATTCCGTGTACGGCT 0.557 NA 3 49 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419866 105419866 + Nonsense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:105419866G>T uc010axc.1 - 7 2042 c.1922C>A c.(1921-1923)TCA>TAA p.S641* AHNAK2_uc001ypx.2_Nonsense_Mutation_p.S541* NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 641 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTTTGTCATTGAGTCACTGTC 0.423 NA 12 297 0.000422831 0.0079914 1 0 MTA1 9112 broad.mit.edu 37 14 105930441 105930441 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:105930441G>T uc001yqx.2 + 13 1336 c.1149G>T c.(1147-1149)CCG>CCT p.P383P MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Silent_p.P144P NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 383 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CGGGGGCGCCGGGCCAGAGCC 0.652 NA 15 40 5.01e-05 0.00100308 1 0 TGM7 116179 broad.mit.edu 37 15 43585695 43585695 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr15:43585695G>T uc001zrf.1 - 2 150 c.145C>A c.(145-147)CGA>AGA p.R49R NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 49 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TGGAAGGGTCGGCTGAAGCTC 0.617 NA 27 56 1.38e-23 3.22e-22 1 0 DIS3L 115752 broad.mit.edu 37 15 66587415 66587415 + Nonsense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr15:66587415G>T uc010ujm.1 + 2 244 c.229G>T c.(229-231)GAG>TAG p.E77* DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_5'UTR|DIS3L_uc002apq.2_Nonsense_Mutation_p.E77*|DIS3L_uc010bho.2_5'UTR NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 77 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 TGAGTTTCCTGAGTTGAAGGG 0.393 NA 8 119 0.000442599 0.00827283 1 0 EFTUD1 79631 broad.mit.edu 37 15 82512439 82512439 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr15:82512439G>T uc002bgt.1 - 13 1593 c.1424C>A c.(1423-1425)CCA>CAA p.P475Q EFTUD1_uc002bgu.1_Missense_Mutation_p.P424Q NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 475 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 CTCTCCTTTTGGACATGTTTC 0.493 NA 11 121 6.32e-08 1.4e-06 1 0 ANPEP 290 broad.mit.edu 37 15 90347556 90347556 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr15:90347556G>A uc002bop.3 - 6 1399 c.1107C>T c.(1105-1107)TTC>TTT p.F369F NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 369 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) ACAGGGGGTCGAACAGCAGGG 0.632 NA 7 28 0 0 0 0 BLM 641 broad.mit.edu 37 15 91346911 91346912 + Nonsense_Mutation DNP CG CG AT TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr15:91346911_91346912CG>AT uc002bpr.2 + 18 3616_3617 c.3519_3520CG>AT c.(3517-3522)CTCGGA>CTATGA p.G1174* BLM_uc010uqh.1_Nonsense_Mutation_p.G1174*|BLM_uc010uqi.1_Nonsense_Mutation_p.G799*|BLM_uc010bnx.2_Intron|BLM_uc002bpt.2_Nonsense_Mutation_p.G149* NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 1174 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) ATGTGATGCTCGGAAATAAAGC 0.317 NA Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome 8 213 0 0 0 0 RRN3 54700 broad.mit.edu 37 16 15157137 15157137 + Silent SNP T T G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:15157137T>G uc002dde.2 - 17 1778 c.1710A>C c.(1708-1710)TCA>TCC p.S570S PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Silent_p.S438S|RRN3_uc010uzq.1_Silent_p.S540S NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor 570 Interaction with EIF3L.|Interaction with TWISTNB. regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm ovary(1) 1 TGAATTTCTTTGACCTGTCAA 0.373 NA 18 96 0 0 0 0 CDR2 1039 broad.mit.edu 37 16 22360714 22360714 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:22360714C>T uc002dkn.2 - 4 700 c.392G>A c.(391-393)AGC>AAC p.S131N NM_001802 NP_001793 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2 131 Potential. nucleus protein binding skin(1) 1 GBM - Glioblastoma multiforme(48;0.0188) CTCCACTTGGCTCTGGAGGTG 0.527 NA 27 60 0 0 0 0 SALL1 6299 broad.mit.edu 37 16 51173271 51173271 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:51173271G>A uc010vgs.1 - 2 2893 c.2862C>T c.(2860-2862)AGC>AGT p.S954S SALL1_uc010vgr.1_Silent_p.S857S|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 954 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGCAAACTCGCTTGGGACCG 0.517 NA 13 22 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65005485 65005485 + Nonsense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:65005485G>A uc002eoi.2 - 11 2073 c.1639C>T c.(1639-1641)CGA>TGA p.R547* CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Nonsense_Mutation_p.R547*|CDH11_uc010vin.1_Nonsense_Mutation_p.R421* NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 547 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TACAAACCTCGGTTGTCTCTG 0.398 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 10 50 0 0 0 0 DDX19A 55308 broad.mit.edu 37 16 70333201 70333201 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:70333201A>G uc002eys.2 + 1 130 c.1A>G c.(1-3)ATG>GTG p.M1V DDX19B_uc010vly.1_Missense_Mutation_p.M1V|DDX19B_uc010vlv.1_Intron|DDX19B_uc010vlw.1_Intron|DDX19B_uc002eyo.2_Missense_Mutation_p.M1V|DDX19B_uc002eyp.2_Missense_Mutation_p.M1V|DDX19B_uc002eyq.2_5'UTR|DDX19B_uc002eyr.2_5'UTR|DDX19B_uc010vlx.1_5'UTR NM_007242 NP_009173 Q9NUU7 DD19A_HUMAN DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform 1 mRNA transport|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding 0 Ovarian(137;0.221) GCCTGGGACCATGGCCACTGA 0.667 NA 3 4 0 0 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76501310 76501310 + Nonsense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:76501310T>A uc002feu.1 + 12 1930 c.1545T>A c.(1543-1545)TGT>TGA p.C515* CNTNAP4_uc002fev.1_Nonsense_Mutation_p.C379*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.C442*|CNTNAP4_uc002fex.1_Nonsense_Mutation_p.C518*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.C490* NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 515 Extracellular (Potential).|Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TTCAGGGATGTATGAGGCTCA 0.433 NA 11 25 0 0 0 0 ASGR2 433 broad.mit.edu 37 17 7017444 7017444 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:7017444A>G uc002gep.3 - 2 381 c.116T>C c.(115-117)TTT>TCT p.F39S ASGR2_uc002gem.1_5'UTR|ASGR2_uc002gen.1_Intron|ASGR2_uc002geo.1_Missense_Mutation_p.F39S|ASGR2_uc002ger.3_Missense_Mutation_p.F39S|ASGR2_uc002geq.3_Intron|ASGR2_uc010clw.2_Intron|ASGR2_uc010vtl.1_Intron NM_001181 NP_001172 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 isoform a 39 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding ovary(1) 1 Antihemophilic Factor(DB00025) GCCTTTCAAAAATGGATTTCC 0.537 NA 10 46 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C C A rs55863639 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:7579312C>A uc002gim.2 - 4 569 c.375G>T c.(373-375)ACG>ACT p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 125 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (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.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGCAACTGACCGTGCAAGTCA 0.537 111 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) 15 25 2.94e-08 6.55e-07 1 0 RHBDL3 162494 broad.mit.edu 37 17 30621436 30621436 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:30621436C>A uc002hhe.1 + 5 657 c.643C>A c.(643-645)CTG>ATG p.L215M RHBDL3_uc010csw.1_Missense_Mutation_p.L207M|RHBDL3_uc010csx.1_Missense_Mutation_p.L215M|RHBDL3_uc010csy.1_Missense_Mutation_p.L117M|RHBDL3_uc002hhf.1_Missense_Mutation_p.L117M NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 215 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) TTGGCGCTACCTGACATACAT 0.463 NA 9 36 1.13e-05 0.000231687 1 0 C17orf66 256957 broad.mit.edu 37 17 34185928 34185928 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:34185928C>T uc002hke.1 - 9 1052 c.903G>A c.(901-903)CAG>CAA p.Q301Q C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Silent_p.Q261Q|C17orf66_uc010wcm.1_Silent_p.Q267Q NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 301 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GGCACAGGCACTGCAACAAGA 0.567 NA 9 55 0 0 0 0 HSPB9 94086 broad.mit.edu 37 17 40275302 40275302 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:40275302C>T uc002hyy.2 + 1 547 c.434C>T c.(433-435)CCG>CTG p.P145L KAT2A_uc002hyx.2_5'Flank NM_033194 NP_149971 Q9BQS6 HSPB9_HUMAN heat shock protein, alpha-crystallin-related, 145 response to stress cytoplasm|nucleus protein binding 0 all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866) BRCA - Breast invasive adenocarcinoma(366;0.124) GGACCGTCCCCGAGACTCGGG 0.637 NA 9 26 0 0 0 0 TUBG1 7283 broad.mit.edu 37 17 40766632 40766632 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:40766632G>A uc002ian.2 + 10 1513 c.1115G>A c.(1114-1116)CGG>CAG p.R372Q NM_001070 NP_001061 P23258 TBG1_HUMAN tubulin, gamma 1 372 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) TCGGCCCACCGGGTCAGCGGG 0.592 NA 15 45 0 0 0 0 CCDC47 57003 broad.mit.edu 37 17 61843274 61843274 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:61843274G>T uc002jbs.3 - 2 598 c.262C>A c.(262-264)CAG>AAG p.Q88K CCDC47_uc010ddx.2_Missense_Mutation_p.Q88K|CCDC47_uc002jbt.2_Missense_Mutation_p.Q88K NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor 88 integral to membrane protein binding 0 AGCCTCACCTGGGTATCTGCA 0.393 NA 12 215 0.00010058 0.00197235 1 0 RNF213 57674 broad.mit.edu 37 17 78319551 78319551 + Silent SNP C C T rs143772929 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:78319551C>T uc002jyh.1 + 4 1858 c.1635C>T c.(1633-1635)TTC>TTT p.F545F NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ATGTGGCCTTCGCCAATAAGG 0.463 NA 12 50 0 0 0 0 PTPRM 5797 broad.mit.edu 37 18 8143677 8143677 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr18:8143677G>A uc002knn.3 + 14 2703 c.2200G>A c.(2200-2202)GAG>AAG p.E734K PTPRM_uc010dkv.2_Missense_Mutation_p.E734K|PTPRM_uc010wzl.1_Missense_Mutation_p.E521K NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 734 Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) CCCAGAACCCGAGAAACAGAC 0.423 NA 12 60 0 0 0 0 MYO5B 4645 broad.mit.edu 37 18 47421488 47421488 + Silent SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr18:47421488G>C uc002leb.2 - 22 3156 c.2868C>G c.(2866-2868)ACC>ACG p.T956T MYO5B_uc002lea.2_Silent_p.T97T NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 956 Potential. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) CTACCTCCATGGTGTATGTTG 0.552 NA 3 37 0 0 0 0 SHC2 25759 broad.mit.edu 37 19 436383 436383 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:436383T>C uc002loq.3 - 6 823 c.823A>G c.(823-825)AGA>GGA p.R275G SHC2_uc002lop.3_Missense_Mutation_p.R16G NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 275 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTCACCTCTCTGGTTGATG 0.716 NA 9 16 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9069845 9069845 + Silent SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:9069845A>G uc002mkp.2 - 3 17805 c.17601T>C c.(17599-17601)CCT>CCC p.P5867P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5869 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 TAGTCCCTATAGGACCTGTTT 0.493 NA 3 79 0 0 0 0 KEAP1 9817 broad.mit.edu 37 19 10610177 10610177 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:10610177T>A uc002moq.1 - 2 689 c.533A>T c.(532-534)CAG>CTG p.Q178L KEAP1_uc002mor.1_Missense_Mutation_p.Q178L NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GGGGTCCAGCTGCTGCACCAG 0.567 NA 6 9 0 0 0 0 PLVAP 83483 broad.mit.edu 37 19 17476149 17476149 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:17476149G>T uc002ngk.1 - 3 1175 c.1125C>A c.(1123-1125)CTC>CTA p.L375L NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 375 Potential.|Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 GCTCCATCCTGAGCTGCTCCG 0.617 NA 15 40 8.01e-06 0.000167655 1 0 SF4 57794 broad.mit.edu 37 19 19416690 19416690 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:19416690T>C uc002nmh.2 - 4 508 c.506A>G c.(505-507)GAG>GGG p.E169G SF4_uc002nmg.2_5'Flank|SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 169 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 ATAGTCCTCCTCCTCGTCCTC 0.647 NA 6 31 0 0 0 0 PSG8 440533 broad.mit.edu 37 19 43262160 43262160 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:43262160G>A uc002ouo.2 - 3 801 c.703C>T c.(703-705)CTC>TTC p.L235F PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.L74F|PSG8_uc002ouh.2_Missense_Mutation_p.L235F|PSG8_uc010ein.2_Missense_Mutation_p.L113F|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.L74F|PSG8_uc002oul.3_Missense_Mutation_p.L235F|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 235 extracellular region 0 Prostate(69;0.00899) TCACGGAGGAGATTCAGGGTG 0.527 NA 24 117 0 0 0 0 ZNF229 7772 broad.mit.edu 37 19 44934288 44934288 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:44934288C>G uc002oze.1 - 6 1102 c.668G>C c.(667-669)TGC>TCC p.C223S ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.C217S NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) AGATATCCAGCAAAAGCTGTC 0.378 NA 5 94 0 0 0 0 ZNF577 84765 broad.mit.edu 37 19 52383578 52383578 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:52383578C>G uc010yde.1 - 4 449 c.58G>C c.(58-60)GAG>CAG p.E20Q ZNF577_uc010ydd.1_RNA|ZNF577_uc002pxx.3_Missense_Mutation_p.E20Q|ZNF577_uc002pxv.2_Missense_Mutation_p.E13Q|ZNF577_uc002pxw.2_Missense_Mutation_p.E13Q NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) aaatttacctcccctgaagaa 0.03 NA 22 110 0 0 0 0 ZNF649 65251 broad.mit.edu 37 19 52394790 52394790 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:52394790T>C uc002pxy.2 - 5 867 c.599A>G c.(598-600)CAT>CGT p.H200R ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 200 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTTTCCTGTATGAATTCTCTT 0.463 NA 11 45 0 0 0 0 CACNG8 59283 broad.mit.edu 37 19 54466610 54466610 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:54466610G>A uc002qcs.1 + 1 317 c.211G>A c.(211-213)GGC>AGC p.G71S NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN voltage-dependent calcium channel gamma-8 72 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CGGGGGCGGCGGCGCCTCGGA 0.726 NA 3 7 0 0 0 0 LILRB3 11025 broad.mit.edu 37 19 54746049 54746049 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:54746049C>A uc010erh.1 - 3 332 c.208G>T c.(208-210)GAC>TAC p.D70Y LILRA6_uc002qew.1_Missense_Mutation_p.D70Y|LILRB3_uc002qeh.1_Missense_Mutation_p.D70Y|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.D70Y|LILRA6_uc002qek.1_Missense_Mutation_p.D70Y|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.D70Y|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.D70Y|LILRB3_uc002qep.1_Missense_Mutation_p.D70Y|LILRB3_uc002qeq.1_Missense_Mutation_p.D70Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.D70Y|LILRA6_uc010yep.1_Missense_Mutation_p.D70Y|LILRA6_uc010yeq.1_Missense_Mutation_p.D70Y|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Missense_Mutation_p.D70Y|LILRA6_uc002qev.1_5'Flank NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 70 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TTATTTCTGTCCAAGGGCTCT 0.567 NA 18 147 2.98e-07 6.47e-06 1 0 PTPRH 5794 broad.mit.edu 37 19 55718094 55718094 + Silent SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:55718094T>A uc002qjq.2 - 3 388 c.315A>T c.(313-315)GGA>GGT p.G105G PTPRH_uc010esv.2_Silent_p.G105G|PTPRH_uc002qjs.2_Silent_p.G112G NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 105 Extracellular (Potential).|Fibronectin type-III 1. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) AGCTATTTACTCCGTCTTTCT 0.498 NA 14 80 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57328305 57328305 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:57328305C>T uc002qnu.2 - 7 1856 c.1505G>A c.(1504-1506)GGG>GAG p.G502E ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G473E|PEG3_uc002qnv.2_Missense_Mutation_p.G502E|PEG3_uc002qnw.2_Missense_Mutation_p.G378E|PEG3_uc002qnx.2_Missense_Mutation_p.G376E|PEG3_uc010etr.2_Missense_Mutation_p.G502E NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 502 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AAAACGTTTCCCTCCAACCTG 0.453 NA 15 83 0 0 0 0 TTC15 51112 broad.mit.edu 37 2 3405563 3405563 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:3405563G>C uc002qxm.1 + 3 1269 c.1063G>C c.(1063-1065)GAC>CAC p.D355H TTC15_uc002qxn.1_Missense_Mutation_p.D355H|TTC15_uc010ewm.1_Missense_Mutation_p.D355H NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 355 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) TGCAGTTAAAGACTTGATGCT 0.378 NA 17 135 0 0 0 0 FAM179A 165186 broad.mit.edu 37 2 29240047 29240047 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:29240047C>G uc010ezl.2 + 9 1423 c.1072C>G c.(1072-1074)CGG>GGG p.R358G FAM179A_uc010ymm.1_Missense_Mutation_p.R358G|FAM179A_uc002rmr.3_Intron NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 358 binding ovary(3)|skin(1) 4 CAAGTCTGCCCGGGAGAAGAT 0.493 NA 4 93 0 0 0 0 ALMS1 7840 broad.mit.edu 37 2 73826530 73826530 + Silent SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:73826530A>G uc002sje.1 + 19 11664 c.11553A>G c.(11551-11553)GTA>GTG p.V3851V ALMS1_uc002sjf.1_Silent_p.V3807V|ALMS1_uc002sjh.1_Silent_p.V3237V NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3849 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTTTCTAGGTAGCAAACCATG 0.368 NA 36 180 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116510785 116510785 + Missense_Mutation SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:116510785A>T uc002tla.1 + 11 1443 c.986A>T c.(985-987)AAT>ATT p.N329I DPP10_uc002tlb.1_Missense_Mutation_p.N279I|DPP10_uc002tlc.1_Missense_Mutation_p.N325I|DPP10_uc002tle.2_Missense_Mutation_p.N333I|DPP10_uc002tlf.1_Missense_Mutation_p.N322I NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 329 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TGGGTAAGCAATACCAAGACT 0.363 NA 10 41 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168107879 168107879 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:168107879T>A uc002udx.2 + 8 9995 c.9977T>A c.(9976-9978)GTG>GAG p.V3326E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V3151E|XIRP2_uc010fpq.2_Missense_Mutation_p.V3104E|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3151 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GAAAATTTCGTGAATGACCCT 0.443 NA 7 78 0 0 0 0 FASTKD2 22868 broad.mit.edu 37 2 207651558 207651558 + Missense_Mutation SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:207651558A>T uc002vbu.2 + 8 1939 c.1529A>T c.(1528-1530)TAC>TTC p.Y510F FASTKD2_uc002vbv.2_Missense_Mutation_p.Y510F|FASTKD2_uc002vbx.2_Missense_Mutation_p.Y510F|FASTKD2_uc002vbw.1_Missense_Mutation_p.Y510F NM_001136193 NP_001129665 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 510 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|skin(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) TTGATGAATTACTTTCCCCTG 0.403 NA 35 80 0 0 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209200049 209200049 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:209200049C>T uc002vcz.2 + 25 4320 c.4162C>T c.(4162-4164)CTT>TTT p.L1388F PIKFYVE_uc002vcy.1_Missense_Mutation_p.L1332F NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1388 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 CATTCGGCTTCTTGAAGTATG 0.363 NA 71 134 0 0 0 0 CPS1 1373 broad.mit.edu 37 2 211539654 211539654 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:211539654T>A uc002vee.3 + 35 4262 c.4130T>A c.(4129-4131)GTG>GAG p.V1377E CPS1_uc010fur.2_Missense_Mutation_p.V1383E|CPS1_uc010fus.2_Missense_Mutation_p.V926E NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1377 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTCCTTGGTGTGGCTGAACAA 0.343 NA 18 121 0 0 0 0 COL4A4 1286 broad.mit.edu 37 2 227920692 227920692 + Silent SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:227920692A>G uc010zlt.1 - 30 3339 c.2685T>C c.(2683-2685)GAT>GAC p.D895D NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 895 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GTAGCCCATCATCTCCAAAGG 0.582 NA 5 18 0 0 0 0 DGKD 8527 broad.mit.edu 37 2 234296984 234296984 + Nonsense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:234296984C>T uc002vui.1 + 2 250 c.238C>T c.(238-240)CGA>TGA p.R80* DGKD_uc002vuj.1_Nonsense_Mutation_p.R36* NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 80 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity p.R80Q(1) central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GCTTCGAGGGCGAACGCTTTA 0.507 NA 25 59 0 0 0 0 HDAC4 9759 broad.mit.edu 37 2 240061464 240061464 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:240061464G>A uc002vyk.3 - 9 1686 c.894C>T c.(892-894)TCC>TCT p.S298S HDAC4_uc010fyz.1_Silent_p.S293S|HDAC4_uc010zoa.1_Silent_p.S293S|HDAC4_uc010fza.2_Silent_p.S298S|HDAC4_uc010fyy.2_Silent_p.S250S|HDAC4_uc010znz.1_Silent_p.S181S|HDAC4_uc010fzb.1_RNA NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 298 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) AGCTGGGTCCGGAGCCTGGGG 0.677 NA 16 28 0 0 0 0 XRN2 22803 broad.mit.edu 37 20 21336733 21336733 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr20:21336733T>C uc002wsf.1 + 22 2131 c.2036T>C c.(2035-2037)CTT>CCT p.L679P XRN2_uc002wsg.1_Missense_Mutation_p.L603P|XRN2_uc010zsk.1_Missense_Mutation_p.L625P NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 679 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 AGAAACAGCCTTGGAGGTGAT 0.403 NA 7 55 0 0 0 0 TH1L 51497 broad.mit.edu 37 20 57564012 57564012 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr20:57564012G>C uc002yag.2 + 5 494 c.467G>C c.(466-468)CGG>CCG p.R156P TH1L_uc010zzu.1_Missense_Mutation_p.R156P|TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.R156P NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 156 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) ACCACGTGGCGGGACCTTTTT 0.478 NA 3 46 0 0 0 0 TTC3 7267 broad.mit.edu 37 21 38516833 38516833 + Missense_Mutation SNP A A C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr21:38516833A>C uc002yvz.2 + 21 1886 c.1781A>C c.(1780-1782)GAA>GCA p.E594A TTC3_uc011aee.1_Missense_Mutation_p.E284A|TTC3_uc002ywa.2_Missense_Mutation_p.E594A|TTC3_uc002ywb.2_Missense_Mutation_p.E594A|TTC3_uc010gnf.2_Missense_Mutation_p.E359A|TTC3_uc002ywc.2_Missense_Mutation_p.E284A|TTC3_uc011aed.1_Missense_Mutation_p.E284A|TTC3_uc010gne.1_Missense_Mutation_p.E594A NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 594 TPR 4. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AGATTTCTAGAAGCTCTCAAT 0.373 NA 25 83 0 0 0 0 IGSF5 150084 broad.mit.edu 37 21 41151062 41151063 + Missense_Mutation DNP CG CG AT TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr21:41151062_41151063CG>AT uc002yyo.2 + 5 867_868 c.764_765CG>AT c.(763-765)CCG>CAT p.P255H NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 255 Extracellular (Potential). integral to membrane|tight junction 0 Prostate(19;5.35e-06) TCAAGTTTACCGAGTTTAGGTT 0.381 NA 5 68 0 0 0 0 NEFH 4744 broad.mit.edu 37 22 29885318 29885318 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr22:29885318G>T uc003afo.2 + 4 1760 c.1689G>T c.(1687-1689)GAG>GAT p.E563D NEFH_uc003afp.2_Intron NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 563 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|5.|Tail. cell death|nervous system development neurofilament 0 CACCGCCTGAGGCCAAGTCCC 0.572 NA 6 39 2.01e-06 4.26e-05 1 0 DEPDC5 9681 broad.mit.edu 37 22 32200153 32200153 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr22:32200153G>T uc003als.2 + 16 1229 c.1087G>T c.(1087-1089)GGT>TGT p.G363C DEPDC5_uc011als.1_Missense_Mutation_p.G363C|DEPDC5_uc011alu.1_Missense_Mutation_p.G363C|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.G363C|DEPDC5_uc003alr.1_Missense_Mutation_p.G363C|DEPDC5_uc011alt.1_Missense_Mutation_p.G335C NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 363 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 TTTAGGAATTGGTGTGGATTT 0.393 NA 7 69 8.13e-05 0.00160786 1 0 IQSEC1 9922 broad.mit.edu 37 3 12977740 12977740 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:12977740G>A uc003bxt.2 - 3 827 c.818C>T c.(817-819)GCG>GTG p.A273V IQSEC1_uc003bxu.3_Missense_Mutation_p.A151V|IQSEC1_uc011auw.1_Missense_Mutation_p.A259V NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 273 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 GGCCCGCGCCGCATCCAGGGC 0.642 NA 8 24 0 0 0 0 KCNH8 131096 broad.mit.edu 37 3 19498349 19498349 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:19498349C>A uc003cbk.1 + 11 2110 c.1915C>A c.(1915-1917)CTC>ATC p.L639I KCNH8_uc010hex.1_Missense_Mutation_p.L100I NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 639 cNMP.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CTACTGTGATCTCCAGTGTAT 0.403 NA 21 50 5.26e-13 1.2e-11 1 0 XIRP1 165904 broad.mit.edu 37 3 39227609 39227609 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:39227609C>A uc003cjk.1 - 2 3549 c.3328G>T c.(3328-3330)GAT>TAT p.D1110Y XIRP1_uc003cji.2_Missense_Mutation_p.D1110Y|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1110 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ATCCGGGGATCACTTCCACCC 0.607 NA 12 28 6.4e-05 0.00127371 1 0 ZNF660 285349 broad.mit.edu 37 3 44636533 44636533 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:44636533T>A uc003cnl.1 + 3 1181 c.848T>A c.(847-849)TTC>TAC p.F283Y NM_173658 NP_775929 Q6AZW8 ZN660_HUMAN zinc finger protein 660 283 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) GGGAAAACCTTCAGGCAGACT 0.413 NA 11 25 0 0 0 0 CELSR3 1951 broad.mit.edu 37 3 48694142 48694142 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:48694142G>C uc003cul.2 - 2 4669 c.4388C>G c.(4387-4389)CCG>CGG p.P1463R CELSR3_uc003cuf.1_Missense_Mutation_p.P1533R NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1463 Extracellular (Potential).|EGF-like 2; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGTGAAGCGCGGGCGGCAGAC 0.687 NA 2 1 0 0 0 0 IP6K1 9807 broad.mit.edu 37 3 49775724 49775724 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:49775724G>C uc003cxm.1 - 3 670 c.355C>G c.(355-357)CGC>GGC p.R119G IP6K1_uc003cxn.1_5'UTR|IP6K1_uc011bcv.1_5'UTR|IP6K1_uc003cxo.2_Missense_Mutation_p.R119G NM_153273 NP_695005 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 isoform 1 119 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity 0 AGGCTCCGGCGGGAGTGTTTG 0.542 NA 4 39 0 0 0 0 CCDC14 64770 broad.mit.edu 37 3 123665745 123665745 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:123665745T>A uc011bjx.1 - 8 1341 c.1250A>T c.(1249-1251)GAT>GTT p.D417V CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Missense_Mutation_p.D217V|CCDC14_uc010hrt.2_Missense_Mutation_p.D376V|CCDC14_uc003egy.3_Missense_Mutation_p.D217V|CCDC14_uc003egz.2_Missense_Mutation_p.D217V NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 417 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) CTTCTGTACATCCTTCACTGT 0.383 NA 29 157 0 0 0 0 CLSTN2 64084 broad.mit.edu 37 3 140251222 140251222 + Silent SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:140251222C>A uc003etn.2 + 9 1591 c.1401C>A c.(1399-1401)ACC>ACA p.T467T CLSTN2_uc003etm.2_Silent_p.T467T NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 467 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CTGTGGTAACCTTATACATGG 0.413 NA HNSCC(16;0.037) 17 124 5.35e-07 1.16e-05 1 0 TNIK 23043 broad.mit.edu 37 3 170858204 170858204 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:170858204C>A uc003fhh.2 - 13 1661 c.1316G>T c.(1315-1317)CGT>CTT p.R439L TNIK_uc003fhi.2_Missense_Mutation_p.R439L|TNIK_uc003fhj.2_Missense_Mutation_p.R439L|TNIK_uc003fhk.2_Missense_Mutation_p.R439L|TNIK_uc003fhl.2_Missense_Mutation_p.R439L|TNIK_uc003fhm.2_Missense_Mutation_p.R439L|TNIK_uc003fhn.2_Missense_Mutation_p.R439L|TNIK_uc003fho.2_Missense_Mutation_p.R439L NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 439 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) ATGCTCCGCACGCCTCCTCTC 0.652 NA 30 112 6.06e-23 1.4e-21 1 0 PIK3CA 5290 broad.mit.edu 37 3 178948153 178948153 + Missense_Mutation SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:178948153A>T uc003fjk.2 + 20 3082 c.2925A>T c.(2923-2925)AGA>AGT p.R975S NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 975 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CAAAGACAAGAGAATTTGAGA 0.323 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 12 245 0 0 0 0 TTC14 151613 broad.mit.edu 37 3 180321093 180321093 + Silent SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:180321093A>T uc003fkk.2 + 3 600 c.468A>T c.(466-468)ATA>ATT p.I156I TTC14_uc003fkl.2_Silent_p.I156I|TTC14_uc003fkm.2_Silent_p.I156I NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 156 S1 motif. RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TGAGAGATATAGCCCACTTAG 0.358 NA 16 170 0 0 0 0 MASP1 5648 broad.mit.edu 37 3 186968049 186968050 + Missense_Mutation DNP GG GG TT TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:186968049_186968050GG>TT uc003frh.1 - 8 1411_1412 c.1079_1080CC>AA c.(1078-1080)CCC>CAA p.P360Q MASP1_uc003fri.2_Missense_Mutation_p.P360Q|MASP1_uc003frj.2_Missense_Mutation_p.P329Q|MASP1_uc003frk.1_Missense_Mutation_p.P360Q|MASP1_uc011bse.1_Missense_Mutation_p.P334Q NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 360 Sushi 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TTTTACAGGTGGGAATCTTGTT 0.287 NA 11 260 0 0 0 0 ATP13A4 84239 broad.mit.edu 37 3 193166098 193166098 + Silent SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:193166098C>G uc003ftd.2 - 18 2157 c.2049G>C c.(2047-2049)CTG>CTC p.L683L ATP13A4_uc003fte.1_Silent_p.L683L|ATP13A4_uc011bsr.1_Silent_p.L154L|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 683 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCAGAAATATCAGGTCTGATT 0.348 NA 33 97 0 0 0 0 C3orf43 255798 broad.mit.edu 37 3 196235135 196235135 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:196235135G>C uc003fws.2 - 3 425 c.268C>G c.(268-270)CGT>GGT p.R90G C3orf43_uc003fwr.2_Missense_Mutation_p.R82G NM_001077657 NP_001071125 Q147U7 CC043_HUMAN hypothetical protein LOC255798 90 integral to membrane ovary(1) 1 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00298) TCAAGCACACGAGTATGCAAG 0.423 NA 6 200 0 0 0 0 C4orf23 152992 broad.mit.edu 37 4 8469757 8469757 + Nonsense_Mutation SNP G G A rs35357682 byFrequency TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:8469757G>A uc003glg.1 + 9 1112 c.924G>A c.(922-924)TGG>TGA p.W308* C4orf23_uc003glf.1_Nonsense_Mutation_p.W296*|C4orf23_uc003glh.1_Nonsense_Mutation_p.W145* NM_152544 NP_689757 Q8IYL2 TRM44_HUMAN hypothetical protein LOC152992 isoform 2 537 tRNA processing cytoplasm methyltransferase activity|nucleic acid binding|zinc ion binding 0 CACCTGGCTGGGAGCTTTCCC 0.587 NA 4 16 0 0 0 0 LDB2 9079 broad.mit.edu 37 4 16760797 16760797 + Silent SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:16760797A>G uc003goz.2 - 2 535 c.219T>C c.(217-219)GAT>GAC p.D73D LDB2_uc003gpa.2_Silent_p.D73D|LDB2_uc003gpb.2_Silent_p.D73D|LDB2_uc011bxh.1_Silent_p.D73D|LDB2_uc010iee.2_Silent_p.D73D NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 73 LIM domain binding|transcription cofactor activity 0 GCTTTGGTCCATCTTCCAAAC 0.418 NA 11 52 0 0 0 0 INTS12 57117 broad.mit.edu 37 4 106621142 106621142 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:106621142C>A uc003hxw.2 - 3 279 c.21G>T c.(19-21)TTG>TTT p.L7F INTS12_uc010ilr.2_Missense_Mutation_p.L7F NM_020395 NP_065128 Q96CB8 INT12_HUMAN integrator complex subunit 12 7 snRNA processing integrator complex protein binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) GATCAAGTTCCAAGTTCACAG 0.358 NA 10 168 0.000151284 0.00295811 1 0 PCDH10 57575 broad.mit.edu 37 4 134072296 134072296 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:134072296G>T uc003iha.2 + 1 1827 c.1001G>T c.(1000-1002)GGC>GTC p.G334V uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G334V NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 334 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AAGGACCTGGGCCCCAACGCC 0.597 NA 11 40 3.86e-05 0.000775281 1 0 MTNR1A 4543 broad.mit.edu 37 4 187455231 187455231 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:187455231T>A uc003izd.1 - 2 683 c.665A>T c.(664-666)AAA>ATA p.K222I NM_005958 NP_005949 P48039 MTR1A_HUMAN melatonin receptor 1A 222 Cytoplasmic (Potential). circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GCGGTCAGGTTTCACCCTCTG 0.478 NA 14 78 0 0 0 0 SPEF2 79925 broad.mit.edu 37 5 35641632 35641632 + Silent SNP A A C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:35641632A>C uc003jjo.2 + 3 372 c.261A>C c.(259-261)ACA>ACC p.T87T SPEF2_uc003jjn.1_Silent_p.T87T|SPEF2_uc003jjq.3_Silent_p.T87T NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 87 CH. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCATCATCACAGAAAAGCCTG 0.438 NA 10 83 0 0 0 0 LMBRD2 92255 broad.mit.edu 37 5 36141228 36141228 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:36141228T>C uc003jkb.1 - 4 764 c.349A>G c.(349-351)ACG>GCG p.T117A NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 117 Helical; (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATTGTGACGTCCAATACACT 0.313 NA 30 103 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 40999824 40999824 + Missense_Mutation SNP T T G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:40999824T>G uc003jmj.3 - 40 5030 c.4540A>C c.(4540-4542)ACC>CCC p.T1514P HEATR7B2_uc003jmi.3_Missense_Mutation_p.T1069P NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1514 binding ovary(6)|central_nervous_system(2) 8 CAGGTGCTGGTGAAGAAGGTG 0.468 NA 3 63 0 0 0 0 RNF180 285671 broad.mit.edu 37 5 63509383 63509383 + Splice_Site SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:63509383A>T uc003jti.2 + 4 342 c.232_splice c.e4-2 p.A78_splice RNF180_uc003jth.3_Splice_Site_p.A78_splice|RNF180_uc010iws.2_Intron NM_001113561 NP_001107033 Q86T96 RN180_HUMAN ring finger protein 180 isoform 1 integral to membrane|nuclear envelope zinc ion binding 0 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) TATTACCTGTAGGCCCAGTGG 0.398 NA 28 107 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90004696 90004696 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:90004696G>T uc003kju.2 + 39 8890 c.8794G>T c.(8794-8796)GCT>TCT p.A2932S GPR98_uc003kjt.2_Missense_Mutation_p.A638S|GPR98_uc003kjv.2_Missense_Mutation_p.A532S NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2932 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACTTACCATGGCTGCTTCAAC 0.343 NA 32 52 6.06e-23 1.4e-21 1 0 SLC22A5 6584 broad.mit.edu 37 5 131714117 131714117 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:131714117C>T uc003kww.3 + 2 705 c.441C>T c.(439-441)TCC>TCT p.S147S SLC22A5_uc003kwx.3_Silent_p.S171S NM_003060 NP_003051 O76082 S22A5_HUMAN solute carrier family 22 member 5 147 Helical; Name=2; (Potential). positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity 0 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TCACAATCTCCTTGTTCTTCG 0.507 NA 18 117 0 0 0 0 CXXC5 51523 broad.mit.edu 37 5 139060331 139060331 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:139060331C>T uc010jfg.1 + 2 513 c.223C>T c.(223-225)CGC>TGC p.R75C CXXC5_uc003let.2_Missense_Mutation_p.R75C NM_016463 NP_057547 Q7LFL8 CXXC5_HUMAN CXXC finger 5 75 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCCTGCGCCGCTCCCGCCC 0.647 NA 7 24 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202711 140202711 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140202711G>A uc003lhl.2 + 1 1351 c.1351G>A c.(1351-1353)GCT>ACT p.A451T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A451T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A451T NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 451 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACGACAACGCTCCGGCGTT 0.667 NA 11 23 0 0 0 0 PCDHA7 56141 broad.mit.edu 37 5 140216085 140216085 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140216085C>T uc003lhq.2 + 1 2117 c.2117C>T c.(2116-2118)GCG>GTG p.A706V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A706V NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 706 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCATCTGCGCGGTGTCCAGT 0.617 NA 7 19 0 0 0 0 PCDHA7 56141 broad.mit.edu 37 5 140216146 140216146 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140216146G>A uc003lhq.2 + 1 2178 c.2178G>A c.(2176-2178)CCG>CCA p.P726P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.P726P NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 726 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCAGCGCCGTCCTCTGAGG 0.612 NA 11 16 0 0 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250594 140250594 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140250594C>A uc003lia.2 + 1 2764 c.1906C>A c.(1906-1908)CTG>ATG p.L636M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.L636M NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 636 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGCGTGCCCTGGACGAGGC 0.662 NA 6 23 3.6e-05 0.000728797 1 0 PCDHB11 56125 broad.mit.edu 37 5 140579439 140579439 + Nonsense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140579439G>A uc003liy.2 + 1 92 c.92G>A c.(91-93)TGG>TAG p.W31* PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 31 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTGAAACCTGGAGCTTTTCT 0.527 NA 7 29 0 0 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735676 140735676 + Silent SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140735676A>T uc003ljq.1 + 1 909 c.909A>T c.(907-909)ATA>ATT p.I303I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.I303I NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 303 Cadherin 3.|Extracellular (Potential). 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) ATATAACAATATTGGGGGGTC 0.443 NA 5 18 0 0 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788007 140788007 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140788007G>C uc003lkj.1 + 1 238 c.238G>C c.(238-240)GAG>CAG p.E80Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.E80Q NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 80 Extracellular (Potential).|Cadherin 1. 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) CGTAGACGCGGAGAGCGGGGA 0.537 NA 18 34 0 0 0 0 STK32A 202374 broad.mit.edu 37 5 146752790 146752790 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:146752790C>A uc010jgn.1 + 10 1116 c.836C>A c.(835-837)CCG>CAG p.P279Q STK32A_uc003lom.2_Missense_Mutation_p.P279Q|STK32A_uc011dbw.1_Missense_Mutation_p.P279Q NM_001112724 NP_001106195 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A isoform 1 279 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity lung(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGAACTTCCCGTATATGAAT 0.378 NA 7 90 0.000157383 0.0030423 1 0 LARP1 23367 broad.mit.edu 37 5 154179306 154179306 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:154179306C>T uc003lvp.2 + 9 1962 c.1533C>T c.(1531-1533)TAC>TAT p.Y511Y LARP1_uc003lvo.2_Silent_p.Y434Y|LARP1_uc010jie.1_Silent_p.Y306Y NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 511 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTCAGCACTACCAAAAGGAGA 0.527 NA 18 26 0 0 0 0 KIF4B 285643 broad.mit.edu 37 5 154394225 154394225 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:154394225G>A uc010jih.1 + 1 966 c.806G>A c.(805-807)TGC>TAC p.C269Y NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 269 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGCCTCCTATGCTTGGGAAAT 0.443 NA 15 58 0 0 0 0 HAVCR1 26762 broad.mit.edu 37 5 156469687 156469687 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:156469687T>C uc010jij.1 - 6 973 c.788A>G c.(787-789)AAT>AGT p.N263S HAVCR1_uc011ddl.1_Missense_Mutation_p.N94S|HAVCR1_uc003lwi.2_Missense_Mutation_p.N263S NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 258 Extracellular (Potential). interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACGGTGTCATTCCCATCTAC 0.353 NA 16 83 0 0 0 0 UBTD2 92181 broad.mit.edu 37 5 171639129 171639129 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:171639129T>C uc003mbp.1 - 3 536 c.410A>G c.(409-411)GAG>GGG p.E137G NM_152277 NP_689490 Q8WUN7 UBTD2_HUMAN dendritic cell-derived ubiquitin-like protein 137 cytoplasm 0 Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATCCAGAGTCTCTATGTCGCT 0.488 NA 32 29 0 0 0 0 NKAPL 222698 broad.mit.edu 37 6 28227756 28227756 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr6:28227756G>C uc003nkt.2 + 1 659 c.607G>C c.(607-609)GAT>CAT p.D203H ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 203 Lys-rich. upper_aerodigestive_tract(1)|ovary(1) 2 GAAATATTCTGATAGTGACAG 0.294 NA 19 51 0 0 0 0 C6orf204 387119 broad.mit.edu 37 6 118790380 118790380 + Silent SNP T T C rs77465615 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr6:118790380T>C uc003pxz.1 - 12 2697 c.2109A>G c.(2107-2109)AAA>AAG p.K703K NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 703 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) ATAGTGGCCGTTTGGAAAGAA 0.418 NA 30 99 0 0 0 0 STXBP5 134957 broad.mit.edu 37 6 147694921 147694921 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr6:147694921G>A uc003qlz.2 + 26 3297 c.3136G>A c.(3136-3138)GGA>AGA p.G1046R STXBP5_uc010khz.1_Missense_Mutation_p.G1010R|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.G701R NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 1046 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) ACCAAACAGGGGATTCTTTAA 0.348 NA 6 65 0 0 0 0 TFB1M 51106 broad.mit.edu 37 6 155632378 155632378 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr6:155632378C>A uc003qqj.3 - 2 293 c.229G>T c.(229-231)GAC>TAC p.D77Y TFB1M_uc003qqk.2_Intron NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) TCAGCGACGTCGGCATTAAGA 0.438 NA 22 61 1.97e-08 4.41e-07 1 0 RBAK 57786 broad.mit.edu 37 7 5103754 5103754 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:5103754C>G uc010kss.1 + 6 991 c.667C>G c.(667-669)CAT>GAT p.H223D LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.H223D NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 223 Required for interaction with RB1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TTTTATTGCTCATAAGAGAGC 0.348 NA 12 45 0 0 0 0 HDAC9 9734 broad.mit.edu 37 7 18687544 18687544 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:18687544C>T uc003suh.2 + 9 1204 c.1163C>T c.(1162-1164)CCC>CTC p.P388L HDAC9_uc003sue.2_Missense_Mutation_p.P388L|HDAC9_uc011jyd.1_Missense_Mutation_p.P388L|HDAC9_uc003sui.2_Missense_Mutation_p.P391L|HDAC9_uc003suj.2_Missense_Mutation_p.P347L|HDAC9_uc011jya.1_Missense_Mutation_p.P385L|HDAC9_uc003sua.1_Missense_Mutation_p.P366L|HDAC9_uc011jyb.1_Missense_Mutation_p.P344L|HDAC9_uc003sud.1_Missense_Mutation_p.P388L|HDAC9_uc011jyc.1_Missense_Mutation_p.P347L|HDAC9_uc003suf.1_Missense_Mutation_p.P419L|HDAC9_uc010kud.1_Missense_Mutation_p.P391L|HDAC9_uc011jye.1_Missense_Mutation_p.P360L|HDAC9_uc011jyf.1_Missense_Mutation_p.P311L|HDAC9_uc010kue.1_Missense_Mutation_p.P131L NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 388 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) GGAAAGCCACCCAACAGCAGC 0.502 NA 4 8 0 0 0 0 NUPL2 11097 broad.mit.edu 37 7 23240136 23240136 + Silent SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:23240136G>C uc003svu.2 + 7 1303 c.1044G>C c.(1042-1044)CCG>CCC p.P348P NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Silent_p.P225P|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Silent_p.P225P|NUPL2_uc011jyx.1_Silent_p.P120P NM_007342 NP_031368 O15504 NUPL2_HUMAN nucleoporin like 2 348 Ser-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding skin(2)|ovary(1) 3 TTGGTAGTCCGGGCTCACATT 0.507 NA 4 95 0 0 0 0 SCRN1 9805 broad.mit.edu 37 7 29983623 29983623 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:29983623C>G uc010kvp.2 - 3 718 c.514G>C c.(514-516)GGG>CGG p.G172R SCRN1_uc011jzy.1_Missense_Mutation_p.G104R|SCRN1_uc003tak.2_Missense_Mutation_p.G172R|SCRN1_uc011jzz.1_Missense_Mutation_p.G172R|SCRN1_uc011kaa.1_Missense_Mutation_p.G192R|SCRN1_uc011jzw.1_Missense_Mutation_p.G104R|SCRN1_uc011jzx.1_Intron NM_001145515 NP_001138987 Q12765 SCRN1_HUMAN secernin 1 isoform c 172 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity ovary(2) 2 CAGTACTTCCCTATGGTCTCG 0.527 NA 7 45 0 0 0 0 YWHAG 7532 broad.mit.edu 37 7 75958917 75958917 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:75958917C>T uc011kgj.1 - 2 938 c.721G>A c.(721-723)GAT>AAT p.D241N NM_012479 NP_036611 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 241 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity ovary(1)|lung(1) 2 TCGCCGCCATCGTCGTCCTGC 0.587 NA 8 8 0 0 0 0 SEMA3E 9723 broad.mit.edu 37 7 83035320 83035320 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:83035320G>C uc003uhy.1 - 8 1335 c.869C>G c.(868-870)GCG>GGG p.A290G NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 290 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) AACGAGTCTCGCTTTTAGGAA 0.348 NA 6 154 0 0 0 0 ABCB4 5244 broad.mit.edu 37 7 87069700 87069700 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:87069700C>A uc003uiv.1 - 13 1451 c.1375G>T c.(1375-1377)GAT>TAT p.D459Y ABCB4_uc003uiw.1_Missense_Mutation_p.D459Y|ABCB4_uc003uix.1_Missense_Mutation_p.D459Y NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 459 ABC transporter 1.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTCCTAATATCCTGCCCATCA 0.348 NA 9 46 5.69e-11 1.28e-09 1 0 MUC17 140453 broad.mit.edu 37 7 100681270 100681270 + Silent SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:100681270T>C uc003uxp.1 + 3 6626 c.6573T>C c.(6571-6573)CCT>CCC p.P2191P MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2191 Extracellular (Potential).|35.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCAGCACACCTGTGACCAATT 0.483 NA 21 192 0 0 0 0 LRRC17 10234 broad.mit.edu 37 7 102574878 102574878 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:102574878C>T uc003vau.2 + 2 907 c.518C>T c.(517-519)ACG>ATG p.T173M FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.T173M NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 isoform 1 173 LRRCT 1. bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space ovary(1) 1 GAGATAGAAACGCTTATTTCA 0.433 NA 12 103 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103207105 103207105 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:103207105G>C uc003vca.2 - 32 4850 c.4690C>G c.(4690-4692)CTG>GTG p.L1564V RELN_uc010liz.2_Missense_Mutation_p.L1564V NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1564 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCTGTGGCAGGTCAATGGAA 0.473 NA 7 41 0 0 0 0 C7orf58 79974 broad.mit.edu 37 7 120629688 120629688 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:120629688C>G uc003vjq.3 + 2 460 c.13C>G c.(13-15)CCA>GCA p.P5A C7orf58_uc003vjr.1_Missense_Mutation_p.P5A|C7orf58_uc003vjs.3_Missense_Mutation_p.P5A NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 5 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GGTCTGTCGCCCAGTGTTCCC 0.522 NA 10 59 0 0 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121701229 121701229 + Silent SNP A A C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:121701229A>C uc003vjy.2 + 30 7298 c.6903A>C c.(6901-6903)GCA>GCC p.A2301A PTPRZ1_uc003vjz.2_Silent_p.A1434A|PTPRZ1_uc011knt.1_Silent_p.A891A NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 2301 Cytoplasmic (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ATGGTGCAGCATTGCCTGATG 0.448 NA 24 38 0 0 0 0 IQUB 154865 broad.mit.edu 37 7 123097503 123097503 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:123097503G>A uc003vkn.2 - 12 2702 c.2125C>T c.(2125-2127)CCC>TCC p.P709S IQUB_uc011kny.1_Missense_Mutation_p.P42S|IQUB_uc003vko.2_Missense_Mutation_p.P709S|IQUB_uc010lkt.2_RNA NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 709 ovary(3)|large_intestine(1) 4 CAGTTCCAGGGGGACCACTCC 0.453 NA 18 96 0 0 0 0 FLNC 2318 broad.mit.edu 37 7 128492757 128492757 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:128492757G>A uc003vnz.3 + 36 6164 c.5955G>A c.(5953-5955)TCG>TCA p.S1985S FLNC_uc003voa.3_Silent_p.S1952S NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1985 Filamin 18. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GTGCCCCCTCGGGCAACGAGG 0.657 NA 6 22 0 0 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147183067 147183067 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:147183067C>G uc003weu.1 + 11 2227 c.1711C>G c.(1711-1713)CAA>GAA p.Q571E NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 571 EGF-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAAGTGCTCGCAAACATGGGA 0.443 NA HNSCC(39;0.1) 17 77 0 0 0 0 AMAC1L2 83650 broad.mit.edu 37 8 11189001 11189001 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:11189001A>G uc003wtp.1 + 1 507 c.386A>G c.(385-387)AAC>AGC p.N129S NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 129 DUF6 1. integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) CCCGCTGGCAACGCTGCCACT 0.612 NA 13 57 0 0 0 0 TUSC3 7991 broad.mit.edu 37 8 15519695 15519695 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:15519695G>T uc003wwt.2 + 5 808 c.598G>T c.(598-600)GGT>TGT p.G200C TUSC3_uc003wwr.2_Missense_Mutation_p.G200C|TUSC3_uc003wws.2_Missense_Mutation_p.G200C|TUSC3_uc003wwu.2_Missense_Mutation_p.G200C|TUSC3_uc003wwv.2_Missense_Mutation_p.G200C|TUSC3_uc003www.2_Missense_Mutation_p.G200C|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.G200C NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 200 Helical; (Potential). cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) CAACTACTCTGGTACCATTGC 0.368 NA 8 117 0.000274275 0.00521276 1 0 HMBOX1 79618 broad.mit.edu 37 8 28906499 28906499 + Silent SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:28906499A>T uc003xhd.3 + 9 1401 c.1059A>T c.(1057-1059)ATA>ATT p.I353I HMBOX1_uc010lvd.2_Silent_p.I353I|HMBOX1_uc003xhc.3_Silent_p.I352I|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Silent_p.I353I|HMBOX1_uc011lay.1_Silent_p.I352I|HMBOX1_uc003xhf.2_Silent_p.I339I|HMBOX1_uc003xhg.2_Silent_p.I340I NM_001135726 NP_001129198 Q6NT76 HMBX1_HUMAN homeobox containing 1 353 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) GTCATGGGATAGATGTGCAGA 0.473 NA 13 127 0 0 0 0 ARMC1 55156 broad.mit.edu 37 8 66525539 66525539 + Silent SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:66525539C>A uc003xvl.2 - 4 640 c.405G>T c.(403-405)CTG>CTT p.L135L ARMC1_uc011leo.1_Intron NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN armadillo repeat-containing protein 135 metal ion transport metal ion binding skin(1) 1 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) TTGTAGTTCCCAGAAAAAATT 0.393 NA 8 128 0.000442599 0.00827283 1 0 PEX2 5828 broad.mit.edu 37 8 77896369 77896369 + Nonsense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:77896369T>A uc003yax.2 - 4 504 c.46A>T c.(46-48)AGA>TGA p.R16* PEX2_uc003yay.2_Nonsense_Mutation_p.R16*|PEX2_uc003yaz.2_Nonsense_Mutation_p.R16* NM_000318 NP_000309 P28328 PEX2_HUMAN peroxin 2 16 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding ovary(1) 1 TGGCTTATTCTTAGCACTCTG 0.423 NA 14 104 0 0 0 0 ZNF7 7553 broad.mit.edu 37 8 146068464 146068465 + Missense_Mutation DNP GG GG TT TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:146068464_146068465GG>TT uc003zeg.3 + 5 2109_2110 c.1972_1973GG>TT c.(1972-1974)GGG>TTG p.G658L ZNF7_uc010mge.2_Missense_Mutation_p.G669L|ZNF7_uc011lln.1_Missense_Mutation_p.G562L|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.G562L|COMMD5_uc003zel.1_Intron NM_003416 NP_003407 P17097 ZNF7_HUMAN zinc finger protein 7 658 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) AATTCACACCGGGGAGAAGCCT 0.386 NA 7 116 0 0 0 0 NFIB 4781 broad.mit.edu 37 9 14146797 14146797 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:14146797G>T uc003zle.2 - 6 1251 c.816C>A c.(814-816)CCC>CCA p.P272P NFIB_uc003zld.2_Silent_p.P20P|NFIB_uc003zlf.2_Silent_p.P272P|NFIB_uc011lmo.1_Silent_p.P272P NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 272 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) ATATAGTTTTGGGTCTTTTGC 0.378 NA T MYB|HGMA2 adenoid cystic carcinoma|lipoma 10 223 0.00010058 0.00197235 1 0 ELAVL2 1993 broad.mit.edu 37 9 23704954 23704954 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:23704954C>G uc003zpu.2 - 4 724 c.449G>C c.(448-450)CGC>CCC p.R150P ELAVL2_uc003zps.2_Missense_Mutation_p.R150P|ELAVL2_uc003zpt.2_Missense_Mutation_p.R150P|ELAVL2_uc003zpv.2_Missense_Mutation_p.R150P|ELAVL2_uc003zpw.2_Missense_Mutation_p.R150P NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 150 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) AGTAATAATGCGTCCATATTG 0.423 NA 9 120 0 0 0 0 PLAA 9373 broad.mit.edu 37 9 26905576 26905576 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:26905576T>A uc003zqd.2 - 14 2746 c.2321A>T c.(2320-2322)AAG>ATG p.K774M NM_001031689 NP_001026859 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 774 PUL. phospholipid metabolic process|signal transduction phospholipase A2 activator activity 0 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) TGAGGAATACTTTTTTATTTG 0.368 NA 24 98 0 0 0 0 ZNF189 7743 broad.mit.edu 37 9 104170995 104170995 + Silent SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:104170995C>A uc004bbh.1 + 3 1221 c.945C>A c.(943-945)CCC>CCA p.P315P ZNF189_uc004bbg.1_Silent_p.P273P|ZNF189_uc004bbi.1_Silent_p.P301P|ZNF189_uc011lvk.1_Silent_p.P300P NM_003452 NP_003443 O75820 ZN189_HUMAN zinc finger protein 189 isoform 1 315 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(62;0.0559) GGGAAAGACCCCATAAATGTG 0.393 NA 9 136 0.000442599 0.00827283 1 0 CEP110 11064 broad.mit.edu 37 9 123911032 123911032 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:123911032G>A uc004bkx.1 + 22 3573 c.3542G>A c.(3541-3543)CGC>CAC p.R1181H CEP110_uc004bky.1_Missense_Mutation_p.R785H|CEP110_uc004bla.1_Missense_Mutation_p.R629H|CEP110_uc010mvo.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1181 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 AGAAAACCACGCCCTGGGCAG 0.512 NA 11 56 0 0 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132758 91132758 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chrX:91132758C>A uc004efk.1 + 2 2364 c.1519C>A c.(1519-1521)CCT>ACT p.P507T PCDH11X_uc004efl.1_Missense_Mutation_p.P507T|PCDH11X_uc004efo.1_Missense_Mutation_p.P507T|PCDH11X_uc010nmv.1_Missense_Mutation_p.P507T|PCDH11X_uc004efm.1_Missense_Mutation_p.P507T|PCDH11X_uc004efn.1_Missense_Mutation_p.P507T|PCDH11X_uc004efh.1_Missense_Mutation_p.P507T|PCDH11X_uc004efj.1_Missense_Mutation_p.P507T NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 507 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CCTGCTAGGCCCTGATGCTCC 0.423 NA 12 10 1.09e-07 2.37e-06 1 0 GPRASP2 114928 broad.mit.edu 37 X 101969805 101969805 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chrX:101969805G>C uc004ejk.2 + 4 1342 c.8G>C c.(7-9)GGG>GCG p.G3A GPRASP2_uc004ejl.2_Missense_Mutation_p.G3A|GPRASP2_uc004ejm.2_Missense_Mutation_p.G3A|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 3 cytoplasm protein binding ovary(1) 1 accatgactGGGGCAGAGATT 0.294 NA 3 39 0 0 0 0 CHRDL1 91851 broad.mit.edu 37 X 109919483 109919483 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chrX:109919483C>A uc004eou.3 - 12 1702 c.1353G>T c.(1351-1353)GAG>GAT p.E451D CHRDL1_uc004eov.2_Missense_Mutation_p.E440D|CHRDL1_uc004eow.2_Missense_Mutation_p.E449D|CHRDL1_uc010nps.2_Missense_Mutation_p.E450D|CHRDL1_uc004eot.2_Missense_Mutation_p.E370D|CHRDL1_uc011mss.1_Missense_Mutation_p.E365D NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 443 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 TTTCAGATCTCTCCAGGTACA 0.448 NA 29 44 2.46e-21 5.68e-20 1 0 SAGE1 55511 broad.mit.edu 37 X 134994090 134994090 + Silent SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chrX:134994090A>G uc004ezh.2 + 18 2666 c.2499A>G c.(2497-2499)AAA>AAG p.K833K SAGE1_uc010nry.1_Silent_p.K802K|SAGE1_uc011mvv.1_Silent_p.K457K NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 833 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) AATTAATGAAAGAAGTTCGAA 0.348 NA 14 61 0 0 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:74575212_74575213insT uc001dfy.3 - 5 924_925 c.732_733insA c.(730-735)AAACAGfs p.K244fs LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 244_245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). ovary(2) 2 TTTTCCTGCTGTTTTTTTTTGT 0.327 NA 7 134 --- --- --- --- NA NA NA NA UPF2 26019 broad.mit.edu 37 10 12001252 12001253 + Frame_Shift_Ins INS - - T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:12001252_12001253insT uc001ila.2 - 11 2761_2762 c.2287_2288insA c.(2287-2289)ACCfs p.T763fs UPF2_uc001ilb.2_Frame_Shift_Ins_p.T763fs|UPF2_uc001ilc.2_Frame_Shift_Ins_p.T763fs|UPF2_uc009xiz.1_Frame_Shift_Ins_p.T763fs NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 763 Sufficient for interaction with UPF3A and UPF3B.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) CTTTTTCACGGTTTTTTCAGCT 0.416 NA 17 116 --- --- --- --- NA NA NA NA SOCS7 30837 broad.mit.edu 37 17 36508743 36508743 + Frame_Shift_Del DEL C C - TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:36508743delC uc002hqa.2 + 1 739 c.616delC c.(616-618)CGGfs p.R206fs SOCS7_uc010cvl.2_Frame_Shift_Del_p.R206fs|SOCS7_uc002hqb.2_RNA NM_014598 NP_055413 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 206 Mediates interaction with SORBS3. intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding skin(1) 1 Breast(7;3.47e-17) GGGTCCTTCTCGGAAGGGCTC 0.617 NA 2 4 --- --- --- --- NA NA NA NA SIN3B 23309 broad.mit.edu 37 19 16977273 16977273 + Frame_Shift_Del DEL C C - TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:16977273delC uc002ney.1 + 13 1822 c.1808delC c.(1807-1809)TCCfs p.S603fs SIN3B_uc002nez.1_Frame_Shift_Del_p.S571fs|SIN3B_uc010xpi.1_Frame_Shift_Del_p.S161fs NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 603 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 TACCTCAAGTCCCTTGACCAC 0.587 NA 8 26 --- --- --- --- NA NA NA NA SEMA3F 6405 broad.mit.edu 37 3 50212549 50212549 + Frame_Shift_Del DEL T T - TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:50212549delT uc003cyj.2 + 6 675 c.477delT c.(475-477)ACTfs p.T159fs SEMA3F_uc003cyk.2_Intron NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 159 Sema. Missing (in Ref. 2). axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GGACCCAGACTCAGGCGGTCA 0.697 NA 2 4 --- --- --- --- NA NA NA NA CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:76539579_76539580insT uc003hiq.2 - 3 747_748 c.222_223insA c.(220-225)AAACGAfs p.K74fs CDKL2_uc011cbp.1_Frame_Shift_Ins_p.K74fs|CDKL2_uc010iix.1_Intron NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 74_75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 NA 7 301 --- --- --- --- NA NA NA NA FABP6 2172 broad.mit.edu 37 5 159659192 159659192 + Frame_Shift_Del DEL A A - TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:159659192delA uc003lya.1 + 2 283 c.155delA c.(154-156)CAGfs p.Q52fs FABP6_uc003lxx.1_Frame_Shift_Del_p.Q101fs|FABP6_uc003lxz.1_Frame_Shift_Del_p.Q101fs NM_001445 NP_001436 P51161 FABP6_HUMAN gastrotropin isoform 2 52 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTTGGTCCCAGCACTACTCC 0.567 NA 2 4 --- --- --- --- NA NA NA NA