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 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 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) TCTTAACTTACTGTTGTGAAA 0.418 NA 6 70 0 0 0 0 LAPTM5 7805 broad.mit.edu 37 1 31212769 31212769 + Silent SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:31212769G>A uc001bsc.2 - 4 365 c.274C>T c.(274-276)CTG>TTG p.L92L NM_006762 NP_006753 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 92 Helical; (Potential). transport integral to plasma membrane|lysosomal membrane 0 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) AAGGGCAGCAGGTACTTCTCC 0.592 NA 9 17 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39749133 39749133 + Silent SNP G G A rs150686066 TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:39749133G>A uc010ois.1 + 10 1081 c.876G>A c.(874-876)TCG>TCA p.S292S MACF1_uc001cda.1_Silent_p.S200S NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 292 Actin-binding.|CH 2. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATGTGTCTTCGATTTATGATG 0.408 NA 16 48 0 0 0 0 CYP4A22 284541 broad.mit.edu 37 1 47609516 47609516 + Missense_Mutation SNP G G A rs143425502 byFrequency TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:47609516G>A uc001cqv.1 + 6 769 c.718G>A c.(718-720)GAC>AAC p.D240N CYP4A22_uc009vyo.2_Missense_Mutation_p.D240N|CYP4A22_uc009vyp.2_Intron NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 240 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 TCATGAGAATGACACCATCTA 0.537 NA 31 87 0 0 0 0 SLC44A5 204962 broad.mit.edu 37 1 75685020 75685020 + Silent SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:75685020C>T uc001dgu.2 - 16 1332 c.1188G>A c.(1186-1188)GCG>GCA p.A396A SLC44A5_uc001dgt.2_Silent_p.A396A|SLC44A5_uc001dgs.2_Silent_p.A354A|SLC44A5_uc001dgr.2_Silent_p.A354A|SLC44A5_uc010oqz.1_Silent_p.A435A|SLC44A5_uc010ora.1_Silent_p.A390A|SLC44A5_uc010orb.1_Silent_p.A266A NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 396 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 CCCCCGATGTCGCCAAGAAAC 0.393 NA 6 33 0 0 0 0 BCAR3 8412 broad.mit.edu 37 1 94140372 94140372 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:94140372G>A uc001dpz.2 - 2 390 c.115C>T c.(115-117)CCA>TCA p.P39S BCAR3_uc001dqa.2_Missense_Mutation_p.P39S|BCAR3_uc001dqb.2_Missense_Mutation_p.P39S NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 39 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) TAGGCATCTGGGCGATGCTCA 0.537 NA 9 49 0 0 0 0 FNDC7 163479 broad.mit.edu 37 1 109271297 109271297 + Silent SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:109271297C>T uc001dvx.2 + 8 1413 c.1413C>T c.(1411-1413)TTC>TTT p.F471F FNDC7_uc010ova.1_Silent_p.F238F NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 472 Fibronectin type-III 6. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GGGATGCATTCTCCATGATTA 0.428 NA 14 59 0 0 0 0 C1orf107 27042 broad.mit.edu 37 1 210024731 210024731 + Missense_Mutation SNP G G A rs141651647 by1000genomes TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:210024731G>A uc001hhr.1 + 12 2286 c.2210G>A c.(2209-2211)CGG>CAG p.R737Q C1orf107_uc009xcu.1_Missense_Mutation_p.R452Q NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 737 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) GGTGTGGAGCGGGCGGCACAG 0.498 NA 11 38 0 0 0 0 NID1 4811 broad.mit.edu 37 1 236195924 236195924 + Silent SNP C C A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:236195924C>A uc001hxo.2 - 6 1416 c.1314G>T c.(1312-1314)GTG>GTT p.V438V NID1_uc009xgd.2_Silent_p.V438V NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 438 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TCCTTCCTTTCACCTTGCCAT 0.478 NA 9 40 1.13e-05 1.27e-05 1 0 HEATR1 55127 broad.mit.edu 37 1 236766584 236766584 + Nonsense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:236766584G>A uc001hyd.1 - 3 360 c.235C>T c.(235-237)CGA>TGA p.R79* HEATR1_uc001hye.1_Nonsense_Mutation_p.R79* NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 79 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGAACACTTCGCTCCAAGGTT 0.418 NA 11 64 0 0 0 0 SVIL 6840 broad.mit.edu 37 10 29801693 29801693 + Nonsense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr10:29801693G>A uc001iut.1 - 17 4240 c.3487C>T c.(3487-3489)CAG>TAG p.Q1163* SVIL_uc010qdw.1_Nonsense_Mutation_p.Q61*|SVIL_uc001iuu.1_Nonsense_Mutation_p.Q737* NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1163 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CCTGCTTCCTGGGTGTGCAGG 0.542 NA OREG0020097 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 67 0 0 0 0 NRP1 8829 broad.mit.edu 37 10 33474639 33474639 + Missense_Mutation SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr10:33474639C>T uc001iwx.3 - 15 2871 c.2348G>A c.(2347-2349)GGC>GAC p.G783D NRP1_uc001iwv.3_Missense_Mutation_p.G783D|NRP1_uc009xlz.2_Missense_Mutation_p.G777D|NRP1_uc001iww.3_Missense_Mutation_p.G595D|NRP1_uc001iwy.3_Missense_Mutation_p.G776D NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 783 Extracellular (Potential).|MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) TCCGATTTCGCCCTCGAAAAT 0.403 NA 3 43 0 0 0 0 FAM53B 9679 broad.mit.edu 37 10 126312097 126312097 + Missense_Mutation SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr10:126312097C>T uc001lhv.1 - 5 1506 c.983G>A c.(982-984)CGC>CAC p.R328H FAM53B_uc001lhu.1_Intron NM_014661 NP_055476 Q14153 FA53B_HUMAN hypothetical protein LOC9679 328 ovary(1)|pancreas(1) 2 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) GCTGACGTGGCGGGCGAAGGG 0.697 NA 7 5 0 0 0 0 SLC25A22 79751 broad.mit.edu 37 11 792587 792587 + Missense_Mutation SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr11:792587C>T uc001lri.2 - 7 895 c.553G>A c.(553-555)GGT>AGT p.G185S CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Missense_Mutation_p.G185S|SLC25A22_uc001lrj.2_Missense_Mutation_p.G185S NM_024698 NP_078974 Q9H936 GHC1_HUMAN mitochondrial glutamate carrier 1 185 Solcar 2. integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity 0 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) TTGTAGAGACCGGCAATGCCA 0.736 NA 7 18 0 0 0 0 PTPRJ 5795 broad.mit.edu 37 11 48145371 48145371 + Missense_Mutation SNP C C G TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr11:48145371C>G uc001ngp.3 + 5 1178 c.823C>G c.(823-825)CTA>GTA p.L275V PTPRJ_uc001ngo.3_Missense_Mutation_p.L275V NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 275 Extracellular (Potential).|Fibronectin type-III 2.|Fibronectin type-III 3. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 CCCGTATCTTCTACAATCAAA 0.473 NA 24 63 0 0 0 0 SPTBN2 6712 broad.mit.edu 37 11 66457726 66457726 + Missense_Mutation SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr11:66457726C>T uc001ojd.2 - 27 5666 c.5594G>A c.(5593-5595)CGG>CAG p.R1865Q SPTBN2_uc001ojc.1_5'Flank NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1865 Spectrin 15. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CTTCTGGAGCCGGTGGCCGTC 0.701 NA 5 10 0 0 0 0 ERC1 23085 broad.mit.edu 37 12 1553834 1553834 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr12:1553834G>A uc001qjb.2 + 18 3372 c.3131G>A c.(3130-3132)GGA>GAA p.G1044E ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.G1016E|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.G1044E|ERC1_uc010sdv.1_3'UTR|ERC1_uc001qje.2_RNA NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 1044 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ATCCTCCGTGGACTCACTCCA 0.522 NA 29 95 0 0 0 0 CTDSP2 10106 broad.mit.edu 37 12 58217826 58217826 + Missense_Mutation SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr12:58217826C>T uc001sqm.2 - 7 1080 c.551G>A c.(550-552)CGG>CAG p.R184Q CTDSP2_uc010ssg.1_Missense_Mutation_p.R58Q|CTDSP2_uc009zqf.2_Missense_Mutation_p.R32Q|CTDSP2_uc009zqg.2_Intron NM_005730 NP_005721 O14595 CTDS2_HUMAN nuclear LIM interactor-interacting factor 2 184 FCP1 homology. protein dephosphorylation nucleus|soluble fraction CTD phosphatase activity|metal ion binding central_nervous_system(1) 1 all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122) TAGGCGGGCCCGGAACACCCC 0.587 NA 4 28 0 0 0 0 CATSPERB 79820 broad.mit.edu 37 14 92136312 92136312 + Missense_Mutation SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr14:92136312C>T uc001xzs.1 - 14 1273 c.1133G>A c.(1132-1134)AGG>AAG p.R378K CATSPERB_uc010aub.1_5'UTR NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 378 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) GGCAGTTTTCCTGACCTAGGT 0.358 NA 21 42 0 0 0 0 CYLD 1540 broad.mit.edu 37 16 50818266 50818266 + Missense_Mutation SNP A A C TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr16:50818266A>C uc002egp.1 + 12 2268 c.1853A>C c.(1852-1854)GAC>GCC p.D618A CYLD_uc002ego.2_Missense_Mutation_p.D615A|CYLD_uc010cbs.1_Missense_Mutation_p.D615A|CYLD_uc002egq.1_Missense_Mutation_p.D615A|CYLD_uc002egr.1_Missense_Mutation_p.D615A|CYLD_uc002egs.1_Missense_Mutation_p.D615A NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 618 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) TCTGTTCTGGACACTGTGTTA 0.318 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 18 56 0 0 0 0 CCDC113 29070 broad.mit.edu 37 16 58287951 58287951 + Missense_Mutation SNP T T C TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr16:58287951T>C uc002ene.2 + 3 357 c.278T>C c.(277-279)GTA>GCA p.V93A CCDC113_uc010vid.1_Intron NM_014157 NP_054876 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 isoform 1 93 protein complex 0 GACCGTGGGGTAGGCCTGACT 0.507 NA 6 75 0 0 0 0 RASL10B 91608 broad.mit.edu 37 17 34067531 34067531 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr17:34067531G>A uc002hju.2 + 3 686 c.320G>A c.(319-321)CGC>CAC p.R107H NM_033315 NP_201572 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B precursor 107 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity lung(2)|breast(2) 4 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AAGACCATCCGCCAGCAGATC 0.577 NA 21 43 0 0 0 0 ABCA8 10351 broad.mit.edu 37 17 66898960 66898960 + Missense_Mutation SNP T T C TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr17:66898960T>C uc002jhp.2 - 19 2717 c.2538A>G c.(2536-2538)ATA>ATG p.I846M ABCA8_uc002jhq.2_Missense_Mutation_p.I886M|ABCA8_uc010wqq.1_Missense_Mutation_p.I886M|ABCA8_uc010wqr.1_Missense_Mutation_p.I825M|ABCA8_uc002jhr.2_Missense_Mutation_p.I886M NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 846 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) TGTTTTGATATATTTTCACCA 0.378 NA 15 62 0 0 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60241452 60241452 + Missense_Mutation SNP A A C TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr18:60241452A>C uc002lip.3 + 13 2138 c.2138A>C c.(2137-2139)TAT>TCT p.Y713S ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.Y183S NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 713 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 TCACCCAAGTATCAGCATATT 0.443 NA 46 178 0 0 0 0 DAPK3 1613 broad.mit.edu 37 19 3964913 3964913 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr19:3964913G>A uc002lzc.1 - 2 232 c.139C>T c.(139-141)CGC>TGC p.R47C DAPK3_uc002lzd.1_Missense_Mutation_p.R47C NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 47 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GACAGGCGGCGCTTCTTGATG 0.572 NA 24 73 0 0 0 0 DNMT1 1786 broad.mit.edu 37 19 10249194 10249194 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr19:10249194G>A uc002mng.2 - 34 4168 c.3988C>T c.(3988-3990)CCA>TCA p.P1330S DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.P254S|DNMT1_uc010xlc.1_Missense_Mutation_p.P1346S|DNMT1_uc002mnh.2_Missense_Mutation_p.P1225S|DNMT1_uc010xld.1_Missense_Mutation_p.P1330S NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 1330 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) ACGTGCAGTGGCTCCGGGAAC 0.652 NA 12 57 0 0 0 0 NOTCH3 4854 broad.mit.edu 37 19 15298078 15298078 + Missense_Mutation SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr19:15298078C>T uc002nan.2 - 11 1754 c.1678G>A c.(1678-1680)GTG>ATG p.V560M NOTCH3_uc002nao.1_Missense_Mutation_p.V560M NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 560 Extracellular (Potential).|EGF-like 14; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) ATGCCATCCACGCAGCGACCA 0.662 NA 10 36 0 0 0 0 NCAPH 23397 broad.mit.edu 37 2 97019076 97019076 + Missense_Mutation SNP A A T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr2:97019076A>T uc002svz.1 + 8 1027 c.943A>T c.(943-945)ATC>TTC p.I315F NCAPH_uc010fhu.1_Missense_Mutation_p.I291F|NCAPH_uc010fhv.1_Missense_Mutation_p.I304F|NCAPH_uc010yum.1_Missense_Mutation_p.I291F|NCAPH_uc010fhw.1_Missense_Mutation_p.I304F|NCAPH_uc010yun.1_Missense_Mutation_p.I179F|NCAPH_uc002swa.1_5'UTR NM_015341 NP_056156 Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 315 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus urinary_tract(1)|skin(1) 2 Ovarian(717;0.0221) AGATCGCCAGATCTGCCCTTC 0.502 NA 16 36 0 0 0 0 SCN3A 6328 broad.mit.edu 37 2 165997340 165997340 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr2:165997340G>A uc002ucx.2 - 13 2332 c.1840C>T c.(1840-1842)CCG>TCG p.P614S SCN3A_uc002ucy.2_Missense_Mutation_p.P614S|SCN3A_uc002ucz.2_Missense_Mutation_p.P614S|SCN3A_uc002uda.1_Missense_Mutation_p.P483S|SCN3A_uc002udb.1_Missense_Mutation_p.P483S NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 614 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TGTCTGTGCGGCACAAACAGT 0.507 NA 4 59 0 0 0 0 SCN7A 6332 broad.mit.edu 37 2 167273486 167273486 + Missense_Mutation SNP T T C TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr2:167273486T>C uc002udu.1 - 20 3272 c.3145A>G c.(3145-3147)AGA>GGA p.R1049G SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 1049 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 ATCAAAGCTCTCACAACCACC 0.323 NA 4 15 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179598097 179598097 + Missense_Mutation SNP C C T rs146847928 by1000genomes TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr2:179598097C>T uc010zfg.1 - 51 12415 c.12191G>A c.(12190-12192)CGA>CAA p.R4064Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R725Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4991 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAAACTTATTCGGTATTTTTT 0.473 NA 28 89 0 0 0 0 C20orf114 92747 broad.mit.edu 37 20 31890213 31890213 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr20:31890213G>A uc002wyw.1 + 10 1137 c.976G>A c.(976-978)GAA>AAA p.E326K C20orf114_uc002wyx.1_5'Flank NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 326 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 GCTGATCAATGAAAAGGTTGG 0.547 NA 12 58 0 0 0 0 APOL5 80831 broad.mit.edu 37 22 36122860 36122860 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr22:36122860G>A uc003aof.2 + 3 745 c.745G>A c.(745-747)GCC>ACC p.A249T NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 249 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 CTACCAGATGGCCAAATCCAA 0.483 NA 4 207 0 0 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283603 40283603 + Silent SNP G G C TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr22:40283603G>C uc003ayg.2 - 2 401 c.150C>G c.(148-150)CTC>CTG p.L50L NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 50 ENTH. ovary(2)|skin(1) 3 Melanoma(58;0.0749) TAATCTCTGAGAGAGAAATTG 0.423 NA 28 92 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr22:41565529G>A uc003azl.3 + 26 4590 c.4195G>A c.(4195-4197)GAT>AAT p.D1399N NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1399 D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.D1399Y(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ATCTTACCTCGATAGTGTTCA 0.338 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 21 77 0 0 0 0 PFN2 5217 broad.mit.edu 37 3 149684321 149684321 + Silent SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr3:149684321C>T uc003ext.1 - 3 476 c.378G>A c.(376-378)AAG>AAA p.K126K PFN2_uc003exs.1_Intron|PFN2_uc003exu.1_Intron|PFN2_uc011bnu.1_Intron NM_053024 NP_444252 P35080 PROF2_HUMAN profilin 2 isoform a 126 actin cytoskeleton organization|regulation of actin polymerization or depolymerization actin cytoskeleton|cytoplasm actin binding|phosphatidylinositol-4,5-bisphosphate binding 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) AGTATGCCTTCTTATTCAATC 0.393 NA 13 729 0 0 0 0 ECT2 1894 broad.mit.edu 37 3 172501696 172501696 + Silent SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr3:172501696C>T uc003fii.2 + 15 1770 c.1632C>T c.(1630-1632)CTC>CTT p.L544L ECT2_uc010hwv.1_Silent_p.L575L|ECT2_uc003fih.2_Silent_p.L543L|ECT2_uc003fij.1_Silent_p.L544L|ECT2_uc003fik.1_Silent_p.L544L|ECT2_uc003fil.1_Silent_p.L575L NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 544 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) ATGCTTTTCTCAAGGTAATGT 0.269 NA 12 156 0 0 0 0 SULT1B1 27284 broad.mit.edu 37 4 70615521 70615521 + Missense_Mutation SNP T T C TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr4:70615521T>C uc003hen.2 - 4 591 c.293A>G c.(292-294)GAG>GGG p.E98G NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 98 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 TGGATTCTTCTCCAATTGTTC 0.383 NA 17 72 0 0 0 0 HIST1H4D 8360 broad.mit.edu 37 6 26189157 26189157 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr6:26189157G>A uc003ngu.2 - 1 148 c.148C>T c.(148-150)CTC>TTC p.L50F NM_003539 NP_003530 P62805 H4_HUMAN histone cluster 1, H4d 50 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) TCATAAATGAGGCCAGAAATA 0.542 NA 23 60 0 0 0 0 TRDN 10345 broad.mit.edu 37 6 123869615 123869615 + Silent SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr6:123869615G>A uc003pzj.1 - 3 397 c.375C>T c.(373-375)GAC>GAT p.D125D TRDN_uc003pzk.1_Silent_p.D125D|TRDN_uc003pzl.1_Silent_p.D125D|TRDN_uc010ken.2_Silent_p.D125D|TRDN_uc010keo.1_Silent_p.D125D NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 125 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) CAGTATCTTCGTCACCATCAT 0.363 NA 4 13 0 0 0 0 LFNG 3955 broad.mit.edu 37 7 2565945 2565945 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr7:2565945G>A uc003smf.2 + 6 906 c.889G>A c.(889-891)GTG>ATG p.V297M LFNG_uc003smg.2_Missense_Mutation_p.V297M NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN lunatic fringe isoform a 297 Lumenal (Potential). organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) CGGCTACATCGTGGAGGCCCT 0.657 NA 20 65 0 0 0 0 ADCY1 107 broad.mit.edu 37 7 45743232 45743232 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr7:45743232G>A uc003tne.3 + 16 2623 c.2605G>A c.(2605-2607)GTC>ATC p.V869I NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 869 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCAGGTGGGCGTCATGTTTGC 0.572 NA 17 66 0 0 0 0 CYP51A1 1595 broad.mit.edu 37 7 91758200 91758200 + Silent SNP A A G TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr7:91758200A>G uc003ulm.3 - 3 624 c.462T>C c.(460-462)CCT>CCC p.P154P CYP51A1_uc011khn.1_Silent_p.P49P|CYP51A1_uc003uln.3_Silent_p.P91P NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 148 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity 0 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTACTGGATTAGGCACATCGT 0.363 NA 3 184 0 0 0 0 MLL5 55904 broad.mit.edu 37 7 104752281 104752281 + Missense_Mutation SNP C C T TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr7:104752281C>T uc003vcm.2 + 27 4612 c.4078C>T c.(4078-4080)CCT>TCT p.P1360S MLL5_uc010ljc.2_Missense_Mutation_p.P1360S|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.P94S NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1360 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 GCCTGGTTCACCTGGATCTGT 0.378 NA 13 40 0 0 0 0 EXOC4 60412 broad.mit.edu 37 7 133689777 133689777 + Missense_Mutation SNP A A G TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr7:133689777A>G uc003vrk.2 + 16 2496 c.2461A>G c.(2461-2463)ATC>GTC p.I821V EXOC4_uc011kpo.1_Missense_Mutation_p.I720V|EXOC4_uc003vrl.2_Missense_Mutation_p.I431V|EXOC4_uc011kpp.1_Missense_Mutation_p.I353V|EXOC4_uc011kpq.1_Missense_Mutation_p.I109V NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 821 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) CAACAAAGATATCAGCGCCAT 0.498 NA 3 133 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 79979296 79979296 + Missense_Mutation SNP T T C TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chrX:79979296T>C uc004edt.2 - 16 1864 c.1601A>G c.(1600-1602)CAT>CGT p.H534R BRWD3_uc004edo.2_Missense_Mutation_p.H130R|BRWD3_uc004edp.2_Missense_Mutation_p.H363R|BRWD3_uc004edq.2_Missense_Mutation_p.H130R|BRWD3_uc010nmj.1_Missense_Mutation_p.H130R|BRWD3_uc004edr.2_Missense_Mutation_p.H204R|BRWD3_uc004eds.2_Missense_Mutation_p.H130R|BRWD3_uc004edu.2_Missense_Mutation_p.H204R|BRWD3_uc004edv.2_Missense_Mutation_p.H130R|BRWD3_uc004edw.2_Missense_Mutation_p.H130R|BRWD3_uc004edx.2_Missense_Mutation_p.H130R|BRWD3_uc004edy.2_Missense_Mutation_p.H130R|BRWD3_uc004edz.2_Missense_Mutation_p.H204R|BRWD3_uc004eea.2_Missense_Mutation_p.H204R|BRWD3_uc004eeb.2_Missense_Mutation_p.H130R NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 534 WD 9. ovary(4) 4 CAAATGTCCATGAGAATCTGT 0.303 NA 13 19 0 0 0 0 RAB40AL 282808 broad.mit.edu 37 X 102192947 102192947 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chrX:102192947G>A uc004ejs.2 + 1 748 c.701G>A c.(700-702)AGG>AAG p.R234K NM_001031834 NP_001027004 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 234 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding ovary(2) 2 CTGAATGCCAGGATGATGCGA 0.587 NA 48 49 0 0 0 0 IPO13 9670 broad.mit.edu 37 1 44433110 44433117 + Frame_Shift_Del DEL TTCCCCTC TTCCCCTC - TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr1:44433110_44433117delTTCCCCTC uc001ckx.2 + 19 3532_3539 c.2737_2744delTTCCCCTC c.(2737-2745)TTCCCCTCTfs p.F913fs IPO13_uc001cky.2_Frame_Shift_Del_p.F131fs NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 913_915 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GCCACCTGGTTTCCCCTCTGCCCGCCTC 0.615 NA 20 55 --- --- --- --- NA NA NA NA TTN 7273 broad.mit.edu 37 2 179597035 179597035 + Frame_Shift_Del DEL A A - TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr2:179597035delA uc010zfg.1 - 54 13153 c.12929delT c.(12928-12930)CTGfs p.L4310fs TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.L971fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5237 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCTTTAACAGCTGTGATGG 0.393 NA 38 155 --- --- --- --- NA NA NA NA ATR 545 broad.mit.edu 37 3 142274740 142274740 + Frame_Shift_Del DEL T T - TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5 59978c6f-681c-4364-af89-f56717688b71 g.chr3:142274740delT uc003eux.3 - 10 2442 c.2320delA c.(2320-2322)ATAfs p.I774fs NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 774 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 GGACTAGGTATTTTTTTTTTC 0.328 NA Other_conserved_DNA_damage_response_genes 9 200 --- --- --- --- NA NA NA NA