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 COL11A1 1301 broad.mit.edu 37 1 103405905 103405905 + Missense_Mutation SNP G G C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr1:103405905G>C uc001dul.2 - 43 3680 c.3362C>G c.(3361-3363)TCC>TGC p.S1121C COL11A1_uc001duk.2_Missense_Mutation_p.S317C|COL11A1_uc001dum.2_Missense_Mutation_p.S1133C|COL11A1_uc001dun.2_Missense_Mutation_p.S1082C|COL11A1_uc009weh.2_Missense_Mutation_p.S1005C NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1121 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTCCCCAGGGGAGCCGGCAGG 0.473 NA 17 33 0 0 0 0 TMOD4 29765 broad.mit.edu 37 1 151143016 151143016 + Missense_Mutation SNP T T C rs143662204 byFrequency TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr1:151143016T>C uc001exc.3 - 9 1184 c.994A>G c.(994-996)ATG>GTG p.M332V TMOD4_uc001exb.2_Missense_Mutation_p.M160V|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.M263V NM_013353 NP_037485 Q9NZQ9 TMOD4_HUMAN tropomodulin 4 (muscle) 332 muscle contraction cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTTCGGGTCATGGCCTGGGCT 0.542 NA 6 123 0 0 0 0 OLFML2B 25903 broad.mit.edu 37 1 161954641 161954641 + Missense_Mutation SNP T T C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr1:161954641T>C uc001gbu.2 - 7 2028 c.1604A>G c.(1603-1605)TAC>TGC p.Y535C OLFML2B_uc001gbt.2_Missense_Mutation_p.Y18C|OLFML2B_uc010pkq.1_Missense_Mutation_p.Y536C NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 535 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGTGTTGCCGTAGTAATAGTT 0.542 NA 42 79 0 0 0 0 ARID5B 84159 broad.mit.edu 37 10 63851924 63851924 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr10:63851924C>T uc001jlt.1 + 10 2728 c.2702C>T c.(2701-2703)ACG>ATG p.T901M NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 901 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) GAAGCCCCTACGGATGATCAG 0.552 NA 28 46 0 0 0 0 KCNMA1 3778 broad.mit.edu 37 10 78708933 78708933 + Silent SNP C C T rs143184179 by1000genomes TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr10:78708933C>T uc001jxn.2 - 22 2853 c.2676G>A c.(2674-2676)ACG>ACA p.T892T KCNMA1_uc001jxj.2_Silent_p.T838T|KCNMA1_uc001jxk.1_Silent_p.T510T|KCNMA1_uc009xrt.1_Silent_p.T683T|KCNMA1_uc001jxl.1_Silent_p.T517T|KCNMA1_uc001jxo.2_Silent_p.T875T|KCNMA1_uc001jxm.2_Silent_p.T834T|KCNMA1_uc001jxq.2_Silent_p.T837T NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 892 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AGTTATGAAGCGTCTCCCATT 0.458 NA 5 117 0 0 0 0 ENTPD1 953 broad.mit.edu 37 10 97607265 97607265 + Silent SNP C C T rs149509898 by1000genomes TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr10:97607265C>T uc001klh.3 + 7 1200 c.876C>T c.(874-876)AAC>AAT p.N292N ENTPD1_uc001kli.3_Silent_p.N299N|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.N304N|ENTPD1_uc010qok.1_Silent_p.N184N|ENTPD1_uc010qol.1_Silent_p.N184N|ENTPD1_uc010qom.1_Intron|ENTPD1_uc010qon.1_Silent_p.N154N|ENTPD1_uc009xva.2_Silent_p.N154N|ENTPD1_uc009xuz.2_Intron NM_001776 NP_001767 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 292 Extracellular (Potential). cell adhesion integral to plasma membrane ATP binding ovary(3) 3 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) AGGTAGTGAACGTAAGTGACC 0.418 NA 26 46 0 0 0 0 ELP4 26610 broad.mit.edu 37 11 31616337 31616337 + Silent SNP T T A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr11:31616337T>A uc001mtb.2 + 4 437 c.402T>A c.(400-402)CTT>CTA p.L134L ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.L134L|ELP4_uc010rdz.1_Silent_p.L134L NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 134 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) CACCATTACTTGATGATAAAT 0.289 NA 11 26 0 0 0 0 QSER1 79832 broad.mit.edu 37 11 32955375 32955375 + Missense_Mutation SNP T T A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr11:32955375T>A uc001mty.2 + 4 2451 c.2184T>A c.(2182-2184)GAT>GAA p.D728E QSER1_uc001mtz.1_Missense_Mutation_p.D489E|QSER1_uc001mua.2_Missense_Mutation_p.D233E NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 728 Gln-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TCCTTTTAGATTCTGCCTGTG 0.408 NA 28 49 0 0 0 0 ABTB2 25841 broad.mit.edu 37 11 34176283 34176283 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr11:34176283C>T uc001mvl.1 - 15 2403 c.2173G>A c.(2173-2175)GAA>AAA p.E725K NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 725 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) TCCATGGATTCTGTTCCTCCG 0.592 NA 24 45 0 0 0 0 OR5L1 219437 broad.mit.edu 37 11 55578997 55578997 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr11:55578997G>A uc001nhw.1 + 1 55 c.55G>A c.(55-57)GAT>AAT p.D19N NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TGGACTATCAGATGTCCCTGA 0.443 NA 14 113 0 0 0 0 NOX4 50507 broad.mit.edu 37 11 89088181 89088181 + Missense_Mutation SNP G G C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr11:89088181G>C uc001pct.2 - 13 1405 c.1166C>G c.(1165-1167)TCT>TGT p.S389C NOX4_uc009yvr.2_Missense_Mutation_p.S364C|NOX4_uc001pcu.2_Missense_Mutation_p.S315C|NOX4_uc001pcw.2_Missense_Mutation_p.S82C|NOX4_uc001pcx.2_Missense_Mutation_p.S82C|NOX4_uc001pcv.2_Missense_Mutation_p.S389C|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.S223C|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.S365C|NOX4_uc009yvq.2_Missense_Mutation_p.S365C NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 389 FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) GTCTTGACTAGATGGAGGCAG 0.363 NA 6 22 0 0 0 0 IQSEC3 440073 broad.mit.edu 37 12 247484 247484 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr12:247484G>A uc001qhw.1 + 1 52 c.46G>A c.(46-48)GCT>ACT p.A16T IQSEC3_uc001qhu.1_Missense_Mutation_p.A16T|IQSEC3_uc001qht.1_Missense_Mutation_p.A101T|uc001qhv.1_RNA NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 319 IQ. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCGGCGCGCCGCTTGCACCAT 0.592 NA 8 128 0 0 0 0 PGAM5 192111 broad.mit.edu 37 12 133294060 133294060 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr12:133294060G>A uc009zyv.2 + 3 433 c.406G>A c.(406-408)GCA>ACA p.A136T PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.A136T NM_138575 NP_612642 Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 136 integral to membrane|mitochondrial outer membrane phosphoprotein phosphatase activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) GCTCCGCCTGGCAAGCTTGGG 0.453 NA 3 31 0 0 0 0 NALCN 259232 broad.mit.edu 37 13 101997763 101997763 + Missense_Mutation SNP G G T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr13:101997763G>T uc001vox.1 - 7 842 c.653C>A c.(652-654)ACC>AAC p.T218N NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.T218N|NALCN_uc001vpa.2_Missense_Mutation_p.T218N NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 218 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACTATTCCAGGTTACATTCCT 0.373 NA 20 34 5.04e-11 5.75e-11 1 0 FBLN5 10516 broad.mit.edu 37 14 92336584 92336584 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr14:92336584G>A uc001xzx.3 - 11 1804 c.1331C>T c.(1330-1332)TCG>TTG p.S444L TC2N_uc001xzv.3_5'Flank|FBLN5_uc010aud.2_Missense_Mutation_p.S449L|FBLN5_uc010aue.2_Missense_Mutation_p.S485L|FBLN5_uc001xzw.2_RNA NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN fibulin 5 precursor 444 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 all_cancers(154;0.0722) TGGGTACTGCGACACATATAT 0.542 NA 26 51 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28375741 28375741 + Splice_Site SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr15:28375741C>T uc001zbj.2 - 82 12677 c.12571_splice c.e82-1 p.I4191_splice NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GAGAATCAATCTAGAGGGGGA 0.413 NA 43 72 0 0 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42133017 42133017 + Missense_Mutation SNP G G T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr15:42133017G>T uc010bco.2 + 4 366 c.265G>T c.(265-267)GAT>TAT p.D89Y JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.D320Y|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.D320Y|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 89 C2. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 GGTGACCGGAGATGACCCTGT 0.577 NA 29 41 3.73e-12 4.29e-12 1 0 GCOM1 145781 broad.mit.edu 37 15 57913836 57913836 + Nonsense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr15:57913836C>T uc002aei.2 + 4 468 c.349C>T c.(349-351)CGA>TGA p.R117* GCOM1_uc002aej.2_Nonsense_Mutation_p.R117*|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_Intron|GCOM1_uc002aem.2_Nonsense_Mutation_p.R117*|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Nonsense_Mutation_p.R117*|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN GRINL1A upstream protein isoform 7 117 Potential. intracellular signal transduction extrinsic to internal side of plasma membrane|I band ovary(1) 1 GGTGAGAAAGCGAATGTATGG 0.403 NA 23 53 0 0 0 0 BTBD12 84464 broad.mit.edu 37 16 3645643 3645643 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr16:3645643G>A uc002cvp.2 - 9 2603 c.1976C>T c.(1975-1977)TCG>TTG p.S659L NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 659 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 CTTGTCCTGCGATGGCACCAC 0.632 NA Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 9 21 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65032649 65032649 + Silent SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr16:65032649G>A uc002eoi.2 - 4 773 c.339C>T c.(337-339)ACC>ACT p.T113T CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.T113T|CDH11_uc010vin.1_5'UTR|CDH11_uc010vio.1_Silent_p.T113T NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 113 Extracellular (Potential).|Cadherin 1. 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) CCAACGTCTTGGTGGCATGAA 0.493 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 10 6 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10448712 10448712 + Silent SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr17:10448712C>T uc010coi.2 - 5 584 c.456G>A c.(454-456)CCG>CCA p.P152P uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.P152P|MYH2_uc010coj.2_Silent_p.P152P NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 152 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 AGATGTGGGGCGGGGCCTCCT 0.542 NA 10 96 0 0 0 0 CA4 762 broad.mit.edu 37 17 58233927 58233927 + Missense_Mutation SNP T T C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr17:58233927T>C uc002iym.3 + 3 213 c.119T>C c.(118-120)GTC>GCC p.V40A CA4_uc010wou.1_RNA NM_000717 NP_000708 P22748 CAH4_HUMAN carbonic anhydrase IV precursor 40 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TCAGTGCCAGTCAAGTGGGGT 0.587 NA 17 35 0 0 0 0 SLC14A1 6563 broad.mit.edu 37 18 43319570 43319570 + Missense_Mutation SNP A A G TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr18:43319570A>G uc010xcn.1 + 9 1208 c.889A>G c.(889-891)ATG>GTG p.M297V SLC14A1_uc010dnk.2_Missense_Mutation_p.M353V|SLC14A1_uc002lbf.3_Missense_Mutation_p.M297V|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.M192V|SLC14A1_uc002lbh.3_Missense_Mutation_p.M189V|SLC14A1_uc002lbi.3_Missense_Mutation_p.M165V|SLC14A1_uc002lbj.3_Missense_Mutation_p.M353V|SLC14A1_uc002lbk.3_Missense_Mutation_p.M297V NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 297 Helical; (Potential). integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 CTGCATTGCAATGGGAGGAAT 0.562 NA 26 44 0 0 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456253 5456253 + Missense_Mutation SNP G G A rs113345491 TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr19:5456253G>A uc002mca.3 + 1 828 c.751G>A c.(751-753)GTG>ATG p.V251M NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 251 Helical; (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CTGTCACCCCGTGCTGACCGT 0.682 NA 25 19 0 0 0 0 ZNF835 90485 broad.mit.edu 37 19 57175924 57175924 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr19:57175924C>T uc010ygo.1 - 2 709 c.709G>A c.(709-711)GTG>ATG p.V237M ZNF835_uc010ygn.1_Missense_Mutation_p.V215M NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CCCGTGTGCACGCGCCGGTGC 0.716 NA 5 9 0 0 0 0 ALK 238 broad.mit.edu 37 2 29455179 29455179 + Missense_Mutation SNP C C T rs148001139 TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr2:29455179C>T uc002rmy.2 - 15 3530 c.2623G>A c.(2623-2625)GGA>AGA p.G875R NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 875 Gly-rich.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCTGCGGCTCCGGAATTGCCG 0.617 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 6 91 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166848284 166848284 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr2:166848284G>A uc010zcz.1 - 26 5486 c.5468C>T c.(5467-5469)GCG>GTG p.A1823V NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1834 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CGGTTCAAGCGCAGCTGCAAA 0.458 NA 43 64 0 0 0 0 CDK15 65061 broad.mit.edu 37 2 202700438 202700438 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr2:202700438C>T uc002uyt.2 + 8 852 c.803C>T c.(802-804)CCT>CTT p.P268L CDK15_uc010ftm.2_Missense_Mutation_p.P133L|CDK15_uc002uys.2_Missense_Mutation_p.P217L|CDK15_uc010ftn.1_Missense_Mutation_p.P217L|CDK15_uc010fto.1_Missense_Mutation_p.P247L NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 268 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) TACCGGCCCCCTGATGCTTTG 0.522 NA 15 29 0 0 0 0 MAP2 4133 broad.mit.edu 37 2 210594941 210594941 + Silent SNP T T A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr2:210594941T>A uc002vde.1 + 15 5552 c.5304T>A c.(5302-5304)GCT>GCA p.A1768A MAP2_uc002vdd.1_Silent_p.A500A|MAP2_uc002vdf.1_Silent_p.A443A|MAP2_uc002vdg.1_Silent_p.A412A|MAP2_uc002vdh.1_Silent_p.A469A|MAP2_uc002vdi.1_Silent_p.A1764A NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1768 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GAGAGCATGCTAAAGCCCGTG 0.512 NA 9 17 0 0 0 0 COL4A4 1286 broad.mit.edu 37 2 228009238 228009238 + Silent SNP T T A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr2:228009238T>A uc010zlt.1 - 3 762 c.108A>T c.(106-108)GTA>GTT p.V36V NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 36 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) TTACCCCATATACATATTGTA 0.269 NA 19 45 0 0 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20506898 20506898 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr20:20506898C>T uc002wrz.2 - 28 3834 c.3691G>A c.(3691-3693)GAA>AAA p.E1231K RALGAPA2_uc010gcx.2_Missense_Mutation_p.E935K|RALGAPA2_uc010zsg.1_Missense_Mutation_p.E679K|RALGAPA2_uc002wsa.1_Missense_Mutation_p.E3K NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1231 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 AGACTTACTTCTGCCATTTTC 0.353 NA 7 11 0 0 0 0 BIK 638 broad.mit.edu 37 22 43524565 43524565 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr22:43524565G>A uc003bdk.2 + 4 384 c.324G>A c.(322-324)ATG>ATA p.M108I NM_001197 NP_001188 Q13323 BIK_HUMAN BCL2-interacting killer 108 apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane 0 Ovarian(80;0.0694) GAAGTTTCATGGACGGTTTCA 0.512 NA 27 67 0 0 0 0 SENP2 59343 broad.mit.edu 37 3 185316239 185316239 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr3:185316239C>T uc003fpn.2 + 3 368 c.197C>T c.(196-198)GCT>GTT p.A66V SENP2_uc011brv.1_Missense_Mutation_p.A56V|SENP2_uc011brw.1_5'UTR NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 66 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CTCTACAATGCTGCCAGCTTA 0.393 NA 11 36 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20597445 20597445 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr4:20597445C>T uc003gpr.1 + 31 3512 c.3308C>T c.(3307-3309)CCC>CTC p.P1103L SLIT2_uc003gps.1_Missense_Mutation_p.P1095L NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1103 EGF-like 5; calcium-binding (Potential). apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TGCATATGCCCCGAAGGTTAC 0.303 NA 19 36 0 0 0 0 CHD1 1105 broad.mit.edu 37 5 98233988 98233988 + Nonsense_Mutation SNP G G T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr5:98233988G>T uc003knf.2 - 9 1485 c.1337C>A c.(1336-1338)TCA>TAA p.S446* NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 446 Chromo 2. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AGTGGTTTTTGATTGGTTCCT 0.323 NA 9 31 0.000442599 0.000475057 1 0 PCDHA11 56138 broad.mit.edu 37 5 140250616 140250616 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr5:140250616G>A uc003lia.2 + 1 2786 c.1928G>A c.(1927-1929)CGC>CAC p.R643H 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.R643H NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 643 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) GACTCGCCGCGCCACCGACTT 0.687 NA 20 41 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150922619 150922619 + Missense_Mutation SNP T T C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr5:150922619T>C uc003lue.3 - 9 8082 c.8069A>G c.(8068-8070)AAA>AGA p.K2690R GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2690 Cadherin 23.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCAGAAAATTTCGGTAAGGA 0.463 NA 26 40 0 0 0 0 POLB 5423 broad.mit.edu 37 8 42196204 42196204 + Splice_Site SNP G G T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr8:42196204G>T uc003xoz.1 + 1 174 c.61_splice c.e1+1 p.E21_splice POLB_uc003xpa.1_Splice_Site_p.E21_splice|POLB_uc011lcs.1_Splice_Site NM_002690 NP_002681 P06746 DPOLB_HUMAN DNA-directed DNA polymerase beta DNA-dependent DNA replication cytoplasm|nucleoplasm|spindle microtubule DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding ovary(1)|breast(1) 2 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024) Cytarabine(DB00987) ATGCTCACAGGTTAGCACCGG 0.617 NA DNA_polymerases_(catalytic_subunits) 31 56 1.16e-09 1.32e-09 1 0 GPAA1 8733 broad.mit.edu 37 8 145139221 145139221 + Silent SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr8:145139221G>A uc003zax.2 + 6 911 c.801G>A c.(799-801)ACG>ACA p.T267T GPAA1_uc003zav.1_Silent_p.T145T|GPAA1_uc003zaw.1_Silent_p.T207T NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 267 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGTTGTGCACGCTTCAGGGCA 0.627 NA 17 48 0 0 0 0 NFKBIL2 4796 broad.mit.edu 37 8 145655883 145655883 + Silent SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr8:145655883G>A uc011llg.1 - 25 3862 c.3847C>T c.(3847-3849)CTG>TTG p.L1283L VPS28_uc003zcs.1_5'Flank|VPS28_uc003zct.1_5'Flank NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 1283 LRR 6. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TTGGCAGACAGATCCAGTGAG 0.557 NA 6 12 0 0 0 0 C9orf79 286234 broad.mit.edu 37 9 90501079 90501079 + Silent SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr9:90501079C>T uc004app.3 + 4 1712 c.1677C>T c.(1675-1677)GTC>GTT p.V559V C9orf79_uc004apo.1_Silent_p.V371V NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 559 integral to membrane ovary(3) 3 CACAGTCTGTCATCCCCACTG 0.483 NA 11 139 0 0 0 0 WDR5 11091 broad.mit.edu 37 9 137005026 137005026 + Missense_Mutation SNP G G C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr9:137005026G>C uc004cey.2 + 2 198 c.27G>C c.(25-27)GAG>GAC p.E9D WDR5_uc004cez.2_Missense_Mutation_p.E9D NM_017588 NP_060058 P61964 WDR5_HUMAN WD repeat domain 5 9 histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding 0 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) AGAAGCCCGAGACCGAGGCCG 0.657 NA 11 22 0 0 0 0 CHD4 1108 broad.mit.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - rs1639122 byFrequency TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr12:6711145_6711147delTCC uc001qpo.2 - 4 581_583 c.417_419delGGA c.(415-420)GAGGAT>GAT p.E139del CHD4_uc001qpn.2_In_Frame_Del_p.E132del|CHD4_uc001qpp.2_In_Frame_Del_p.E136del NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 139 Poly-Asp. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATCATCATCAtcctcctcctcct 0.384 NA 27 286 --- --- --- --- NA NA NA NA SMG1 23049 broad.mit.edu 37 16 18856797 18856807 + Frame_Shift_Del DEL GGAGTCTTCAG GGAGTCTTCAG - TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr16:18856797_18856807delGGAGTCTTCAG uc002dfm.2 - 39 6526_6536 c.6163_6173delCTGAAGACTCC c.(6163-6174)CTGAAGACTCCAfs p.L2055fs SMG1_uc010bwb.2_Frame_Shift_Del_p.L1915fs|SMG1_uc010bwa.2_Frame_Shift_Del_p.L786fs|SMG1_uc002dfo.3_Frame_Shift_Del_p.L353fs NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2055_2058 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AGGGTTCAATGGAGTCTTCAGTTTTTCTAGG 0.455 NA 14 40 --- --- --- --- NA NA NA NA KIAA0100 9703 broad.mit.edu 37 17 26971123 26971123 + Frame_Shift_Del DEL A A - TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr17:26971123delA uc002hbu.2 - 2 250 c.151delT c.(151-153)TGGfs p.W51fs KIAA0100_uc002hbv.2_Frame_Shift_Del_p.W51fs|KIAA0100_uc010crr.1_5'UTR NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 51 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) TTCTGGATCCAAAAAAAGCGG 0.478 NA OREG0024280 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 136 --- --- --- --- NA NA NA NA