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 VPS13D 55187 broad.mit.edu 37 1 12428620 12428620 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr1:12428620C>T uc001atv.2 + 53 10687 c.10546C>T c.(10546-10548)CCT>TCT p.P3516S VPS13D_uc001atw.2_Missense_Mutation_p.P3491S|VPS13D_uc001atx.2_Missense_Mutation_p.P2703S|VPS13D_uc009vnl.2_RNA NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3515 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GTTACCTCCTCCTTTCCGAAT 0.463 NA 38 76 0 0 0 0 KIAA0467 23334 broad.mit.edu 37 1 43905594 43905594 + Missense_Mutation SNP A A G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr1:43905594A>G uc001cjk.1 + 36 4850 c.4388A>G c.(4387-4389)AAG>AGG p.K1463R NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2362 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTGTGGGAAAAGGGGAACATT 0.577 NA 3 84 0 0 0 0 CKS1B 1163 broad.mit.edu 37 1 154947264 154947264 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr1:154947264G>A uc001fgb.2 + 1 147 c.43G>A c.(43-45)GAG>AAG p.E15K SHC1_uc001ffx.2_5'Flank|SHC1_uc001ffy.2_5'Flank|CKS1B_uc001fga.2_RNA|hsa-mir-4258|MI0015857_5'Flank NM_001826 NP_001817 P61024 CKS1_HUMAN CDC28 protein kinase 1B 15 cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle nucleoplasm cyclin-dependent protein kinase regulator activity|protein binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) ATACGACGACGAGGAGTTTGA 0.547 NA 6 34 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176659381 176659381 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr1:176659381G>T uc001gkz.2 + 5 3410 c.2246G>T c.(2245-2247)AGT>ATT p.S749I PAPPA2_uc001gky.1_Missense_Mutation_p.S749I|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 749 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AAAGGAGTCAGTGAAAGAGAA 0.547 NA 19 147 5.04e-11 3.54e-10 1 0 MGMT 4255 broad.mit.edu 37 10 131565233 131565233 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr10:131565233C>T uc001lkh.2 + 5 715 c.689C>T c.(688-690)TCG>TTG p.S230L NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 199 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) GGAGCTACCTCGGGCTCCCCG 0.632 NA Direct_reversal_of_damage 6 26 0 0 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431686 56431686 + Missense_Mutation SNP T T G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr11:56431686T>G uc010rjm.1 + 1 525 c.525T>G c.(523-525)AAT>AAG p.N175K NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATATCATCAATCATTTCTTCT 0.483 NA 39 246 0 0 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798843 57798843 + Missense_Mutation SNP T T G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr11:57798843T>G uc010rjz.1 + 1 419 c.419T>G c.(418-420)GTG>GGG p.V140G OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 140 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) GGGGCTTTTGTGTCCTGGGGC 0.507 NA 20 124 0 0 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120348886 120348886 + Missense_Mutation SNP C C G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr11:120348886C>G uc001pxl.1 + 37 3561 c.3554C>G c.(3553-3555)TCT>TGT p.S1185C ARHGEF12_uc009zat.2_Missense_Mutation_p.S1166C|ARHGEF12_uc009zau.1_Missense_Mutation_p.S1082C NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1185 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GGATTAGAATCTACCTTAATA 0.383 NA T MLL AML 8 42 0 0 0 0 GLS2 27165 broad.mit.edu 37 12 56866515 56866515 + Silent SNP C C G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:56866515C>G uc001slj.2 - 15 1749 c.1470G>C c.(1468-1470)CTG>CTC p.L490L GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Silent_p.L225L|GLS2_uc009zot.2_Silent_p.L151L NM_013267 NP_037399 Q9UI32 GLSL_HUMAN glutaminase 2 precursor 490 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding ovary(1)|central_nervous_system(1) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAGCAAATAACAGGTTGACCA 0.438 NA 3 84 0 0 0 0 TPH2 121278 broad.mit.edu 37 12 72335511 72335511 + Missense_Mutation SNP C C G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:72335511C>G uc009zrw.1 + 2 394 c.253C>G c.(253-255)CAG>GAG p.Q85E TPH2_uc001swy.2_5'UTR NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 85 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) GAGGCTCTTTCAGGTGAATGT 0.398 NA 13 76 0 0 0 0 APPL2 55198 broad.mit.edu 37 12 105589401 105589401 + Missense_Mutation SNP T T C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:105589401T>C uc001tlf.1 - 12 1275 c.1057A>G c.(1057-1059)ATA>GTA p.I353V APPL2_uc010swt.1_Missense_Mutation_p.I310V|APPL2_uc001tlg.1_Missense_Mutation_p.I107V|APPL2_uc010swu.1_Missense_Mutation_p.I359V|APPL2_uc009zuq.2_Missense_Mutation_p.I310V NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 353 Required for RAB5A binding (By similarity).|PH. cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 TGGAGGATTATTCCCCTGAAA 0.408 NA 15 59 0 0 0 0 TRPV4 59341 broad.mit.edu 37 12 110236702 110236702 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:110236702G>A uc001tpj.1 - 5 964 c.869C>T c.(868-870)TCG>TTG p.S290L TRPV4_uc001tpg.1_Missense_Mutation_p.S256L|TRPV4_uc001tph.1_Missense_Mutation_p.S243L|TRPV4_uc001tpi.1_Missense_Mutation_p.S243L|TRPV4_uc001tpk.1_Missense_Mutation_p.S290L|TRPV4_uc001tpl.1_Missense_Mutation_p.S290L NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 290 Cytoplasmic (Potential).|ANK 2. actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GGCAGCCAGCGACAGGGGCAG 0.677 NA 13 58 0 0 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582810 120582810 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:120582810G>A uc001txo.2 - 40 5085 c.5072C>T c.(5071-5073)TCG>TTG p.S1691L NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1691 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCAAAGCACGACTCCCCCAT 0.592 NA 10 91 0 0 0 0 RSRC2 65117 broad.mit.edu 37 12 123001845 123001845 + Missense_Mutation SNP C C A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:123001845C>A uc001ucr.2 - 5 677 c.531G>T c.(529-531)AGG>AGT p.R177S RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.R118S|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.R129S|RSRC2_uc001ucu.2_Missense_Mutation_p.R177S NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 177 Ser-rich. ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) GGGAACGAGACCTGATCCGCC 0.493 NA 23 123 3.6e-14 2.59e-13 1 0 OR4M1 441670 broad.mit.edu 37 14 20248681 20248681 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr14:20248681C>T uc010tku.1 + 1 200 c.200C>T c.(199-201)GCC>GTC p.A67V NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTAATCTGGCCCTCCTTGAT 0.418 NA 9 718 0 0 0 0 HOMEZ 57594 broad.mit.edu 37 14 23746122 23746122 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr14:23746122G>A uc001wja.2 - 2 463 c.315C>T c.(313-315)GCC>GCT p.A105A HOMEZ_uc001wjb.2_Silent_p.A107A NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 105 Homeobox 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GGAGGCGCTGGGCCATAAACC 0.502 NA 33 201 0 0 0 0 MUDENG 55745 broad.mit.edu 37 14 57747048 57747048 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr14:57747048G>A uc001xcv.2 + 3 1283 c.856G>A c.(856-858)GAT>AAT p.D286N MUDENG_uc010tri.1_Missense_Mutation_p.D40N|MUDENG_uc010trj.1_Missense_Mutation_p.D183N NM_018229 NP_060699 Q9H0R1 MUDEN_HUMAN Mu-2 related death-inducing protein 286 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ovary(1) 1 TAGTAGTATTGATGCAATGGA 0.423 NA 56 127 0 0 0 0 KIAA0586 9786 broad.mit.edu 37 14 58917303 58917303 + Missense_Mutation SNP T T C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr14:58917303T>C uc001xdv.3 + 8 1241 c.968T>C c.(967-969)TTA>TCA p.L323S KIAA0586_uc010trr.1_Missense_Mutation_p.L364S|KIAA0586_uc001xdt.3_Missense_Mutation_p.L279S|KIAA0586_uc001xdu.3_Missense_Mutation_p.L308S|KIAA0586_uc010trs.1_Missense_Mutation_p.L238S|KIAA0586_uc010trt.1_Missense_Mutation_p.L183S|KIAA0586_uc010tru.1_Missense_Mutation_p.L183S NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 323 ovary(1) 1 AAAGCACCTTTAAAAGAAGTT 0.308 NA 11 38 0 0 0 0 C14orf49 161176 broad.mit.edu 37 14 95921755 95921755 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr14:95921755C>T uc001yei.3 - 5 1111 c.1096G>A c.(1096-1098)GGG>AGG p.G366R C14orf49_uc010avi.2_Missense_Mutation_p.G366R|C14orf49_uc001yej.1_Missense_Mutation_p.G366R NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 366 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) TCCTCGGTCCCCGCTTTCGCC 0.652 NA 17 55 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43820775 43820775 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr15:43820775C>T uc001zrt.2 + 4 7571 c.7104C>T c.(7102-7104)AAC>AAT p.N2368N NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2368 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCAGCCCTAACCCCCCAGGCC 0.642 NA 7 29 0 0 0 0 TEX9 374618 broad.mit.edu 37 15 56719929 56719929 + Missense_Mutation SNP A A G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr15:56719929A>G uc002adp.2 + 11 1095 c.1090A>G c.(1090-1092)AGG>GGG p.R364G TEX9_uc010ugl.1_Missense_Mutation_p.R289G NM_198524 NP_940926 Q8N6V9 TEX9_HUMAN testis expressed 9 364 0 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) TGTTTTAAAAAGGCAAAAGGT 0.244 NA 3 165 0 0 0 0 PKD1 5310 broad.mit.edu 37 16 2158447 2158447 + Missense_Mutation SNP G G C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr16:2158447G>C uc002cos.1 - 15 6930 c.6721C>G c.(6721-6723)CTG>GTG p.L2241V PKD1_uc002cot.1_Missense_Mutation_p.L2241V NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2241 Extracellular (Potential).|REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CTCTGTGTCAGTGGCGTGTCC 0.652 NA 13 61 0 0 0 0 MMP15 4324 broad.mit.edu 37 16 58074525 58074525 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr16:58074525C>T uc002ena.2 + 5 1806 c.833C>T c.(832-834)GCG>GTG p.A278V NM_002428 NP_002419 P51511 MMP15_HUMAN matrix metalloproteinase 15 preproprotein 278 Extracellular (Potential). protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding central_nervous_system(2)|breast(1) 3 GCCATCATGGCGCCGTTCTAC 0.612 NA 33 72 0 0 0 0 SF3B3 23450 broad.mit.edu 37 16 70597896 70597896 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr16:70597896G>A uc002ezf.2 + 18 2617 c.2406G>A c.(2404-2406)ACG>ACA p.T802T NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 802 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) TCATTGAAACGGACCACAATG 0.463 NA 14 89 0 0 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698642 70698642 + Missense_Mutation SNP C C T rs149700961 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr16:70698642C>T uc002ezj.2 - 14 1590 c.1330G>A c.(1330-1332)GCC>ACC p.A444T NM_138383 NP_612392 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 444 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding central_nervous_system(1) 1 AGGTCACTGGCGGCGGGGGAC 0.672 NA 7 19 0 0 0 0 KCNG4 93107 broad.mit.edu 37 16 84270386 84270386 + Missense_Mutation SNP C C T rs138891680 byFrequency TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr16:84270386C>T uc010voc.1 - 2 827 c.706G>A c.(706-708)GTC>ATC p.V236I KCNG4_uc002fhu.1_Missense_Mutation_p.V236I NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 236 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 CACAGGCTGACGGCTGTGGTG 0.602 NA 19 21 0 0 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318845 21318845 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr17:21318845C>T uc002gyv.1 + 3 896 c.191C>T c.(190-192)TCA>TTA p.S64L NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 64 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GACGAGAAGTCACAGCGCTAC 0.592 NA Prostate(3;0.18) 5 66 0 0 0 0 DDX52 11056 broad.mit.edu 37 17 35981216 35981216 + Missense_Mutation SNP T T C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr17:35981216T>C uc002hoi.1 - 11 1495 c.1457A>G c.(1456-1458)AAC>AGC p.N486S DDX52_uc002hoh.1_Missense_Mutation_p.N378S NM_007010 NP_008941 Q9Y2R4 DDX52_HUMAN ATP-dependent RNA helicase ROK1 isoform a 486 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|skin(1) 2 Breast(25;0.00637)|Ovarian(249;0.15) AAAGTCATAGTTGATCACCAA 0.433 NA 17 26 0 0 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40847683 40847683 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr17:40847683C>T uc002iay.2 + 19 3353 c.3137C>T c.(3136-3138)CCG>CTG p.P1046L CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 1046 Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TATGATACTCCGGGCTATGTG 0.657 NA 15 56 0 0 0 0 C17orf71 55181 broad.mit.edu 37 17 57287434 57287434 + Nonsense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr17:57287434C>T uc002ixi.2 + 1 64 c.22C>T c.(22-24)CGA>TGA p.R8* NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 8 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) CGTGAGCTTGCGAGACCTTCT 0.597 NA 9 13 0 0 0 0 PTPRM 5797 broad.mit.edu 37 18 8379226 8379226 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr18:8379226G>A uc002knn.3 + 26 4138 c.3635G>A c.(3634-3636)CGG>CAG p.R1212Q PTPRM_uc010dkv.2_Missense_Mutation_p.R1225Q|PTPRM_uc010wzl.1_Missense_Mutation_p.R999Q NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1212 Tyrosine-protein phosphatase 2.|Cytoplasmic (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) CTGTTGCCCCGGAACCATGAG 0.547 NA 18 102 0 0 0 0 KIAA1632 57724 broad.mit.edu 37 18 43467768 43467768 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr18:43467768C>T uc002lbm.2 - 29 5157 c.5057G>A c.(5056-5058)CGT>CAT p.R1686H KIAA1632_uc010xcq.1_Missense_Mutation_p.R240H|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R561H NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1686 autophagy 0 TGGGGGATGACGCTGCGTCTC 0.448 NA 16 79 0 0 0 0 ELAC1 55520 broad.mit.edu 37 18 48500811 48500811 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr18:48500811G>A uc002lez.2 + 2 143 c.37G>A c.(37-39)GCA>ACA p.A13T ELAC1_uc010dpe.2_Missense_Mutation_p.A13T|SMAD4_uc010xdo.1_RNA NM_018696 NP_061166 Q9H777 RNZ1_HUMAN elaC homolog 1 13 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) GACGGGTGCAGCATACCCATC 0.507 NA 9 50 0 0 0 0 ATP5D 513 broad.mit.edu 37 19 1244103 1244103 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:1244103C>T uc002lrn.2 + 3 404 c.303C>T c.(301-303)AGC>AGT p.S101S ATP5D_uc002lro.2_Silent_p.S101S NM_001001975 NP_001001975 P30049 ATPD_HUMAN ATP synthase, H+ transporting, mitochondrial F1 101 mitochondrial ATP synthesis coupled proton transport|oxidative phosphorylation|respiratory electron transport chain|response to copper ion mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) 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) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAGTGAGCAGCGGTTCCATCG 0.647 NA OREG0025113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 0 0 0 0 PLEKHJ1 55111 broad.mit.edu 37 19 2234193 2234193 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:2234193G>A uc002lvf.1 - 4 357 c.276C>T c.(274-276)AGC>AGT p.S92S MIR1227_hsa-mir-1227|MI0006316_5'Flank|SF3A2_uc002lvg.2_5'Flank NM_018049 NP_060519 Q9NW61 PKHJ1_HUMAN pleckstrin homology domain containing, family J 92 PH. protein binding 0 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) ACTGCTCCTCGCTGCTGCACT 0.632 NA 13 60 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9088852 9088852 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:9088852G>T uc002mkp.2 - 1 3167 c.2963C>A c.(2962-2964)TCT>TAT p.S988Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 988 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 AGAAGTGGCAGAGGTTGAAAC 0.463 NA 55 241 1.19e-26 8.62e-26 1 0 CACNA1A 773 broad.mit.edu 37 19 13395974 13395974 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:13395974C>T uc010dze.2 - 21 3839 c.3603G>A c.(3601-3603)GAG>GAA p.E1201E CACNA1A_uc010dzc.2_Silent_p.E726E|CACNA1A_uc002mwy.3_Silent_p.E1200E|CACNA1A_uc010xne.1_Silent_p.E729E NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1201 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) cctccttcttctcttcctctt 0.443 NA 28 43 0 0 0 0 TMEM59L 25789 broad.mit.edu 37 19 18729231 18729231 + Missense_Mutation SNP T T C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:18729231T>C uc002njy.3 + 7 916 c.829T>C c.(829-831)TCC>CCC p.S277P NM_012109 NP_036241 Q9UK28 TM59L_HUMAN brain-specific membrane-anchored protein 277 Helical; (Potential). Golgi membrane|integral to membrane|membrane fraction ovary(2)|skin(2) 4 CCTCTTCCTCTCCGTGCTGGT 0.697 NA 3 26 0 0 0 0 ZNF14 7561 broad.mit.edu 37 19 19823301 19823301 + Silent SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:19823301G>T uc002nnk.1 - 4 943 c.789C>A c.(787-789)CCC>CCA p.P263P NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 263 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) GAAAGTATGTGGGACAACTGA 0.388 NA 5 67 0.00116845 0.00770497 1 0 RYR1 6261 broad.mit.edu 37 19 38980889 38980889 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:38980889C>T uc002oit.2 + 36 6118 c.5988C>T c.(5986-5988)CGC>CGT p.R1996R RYR1_uc002oiu.2_Silent_p.R1996R NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1996 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GACGTACCCGCGAGTTCCGCT 0.572 NA 14 29 0 0 0 0 PSG8 440533 broad.mit.edu 37 19 43258661 43258661 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:43258661G>A uc002ouo.2 - 5 1165 c.1067C>T c.(1066-1068)GCG>GTG p.A356V PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.A195V|PSG8_uc002ouh.2_Missense_Mutation_p.A356V|PSG8_uc010ein.2_Missense_Mutation_p.A234V|PSG8_uc002ouj.3_Missense_Mutation_p.A138V|PSG8_uc002ouk.3_Missense_Mutation_p.A195V|PSG8_uc002oul.3_Missense_Mutation_p.A356V|PSG8_uc002oum.3_Missense_Mutation_p.A263V|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.A263V NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 356 Ig-like C2-type 3. extracellular region 0 Prostate(69;0.00899) GTTAGAGTCCGCAGAACAGGA 0.453 NA 53 237 0 0 0 0 BAX 581 broad.mit.edu 37 19 49458947 49458947 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:49458947C>T uc002plk.2 + 3 159 c.90C>T c.(88-90)TTC>TTT p.F30F BAX_uc002plf.1_Silent_p.F30F|BAX_uc002plg.1_5'UTR|BAX_uc002plh.1_Intron|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Silent_p.F30F|BAX_uc002pll.2_Intron|BAX_uc002plm.2_Intron NM_138761 NP_620116 Q07812 BAX_HUMAN BCL2-associated X protein isoform alpha 30 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity lung(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) ACTCTAGTTTCATCCAGGATC 0.582 NA 11 75 0 0 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49962338 49962338 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:49962338G>A uc002pnt.2 + 3 431 c.315G>A c.(313-315)CTG>CTA p.L105L ALDH16A1_uc010yar.1_Silent_p.L105L|ALDH16A1_uc010yas.1_Intron|ALDH16A1_uc010yat.1_Intron NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 105 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CCCAGCACCTGACCAGGTGAT 0.642 NA 14 94 0 0 0 0 ZNF610 162963 broad.mit.edu 37 19 52869877 52869877 + Missense_Mutation SNP A A T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:52869877A>T uc002pyx.3 + 6 1652 c.1246A>T c.(1246-1248)ACC>TCC p.T416S ZNF610_uc002pyy.3_Missense_Mutation_p.T416S|ZNF610_uc002pyz.3_Missense_Mutation_p.T373S|ZNF610_uc002pza.2_Missense_Mutation_p.T416S NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 416 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) ATTATACCTAACCAACCATCA 0.423 NA 11 53 0 0 0 0 CACNG7 59284 broad.mit.edu 37 19 54416119 54416119 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:54416119C>T uc002qcr.1 + 1 49 c.34C>T c.(34-36)CTG>TTG p.L12L CACNG7_uc010era.1_Silent_p.L12L NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 12 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CCTGACCCTGCTGAGCAGCGT 0.632 NA 7 41 0 0 0 0 NLRP11 204801 broad.mit.edu 37 19 56300195 56300195 + Missense_Mutation SNP C C G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:56300195C>G uc010ygf.1 - 11 3544 c.2833G>C c.(2833-2835)GAT>CAT p.D945H NLRP11_uc002qlz.2_Missense_Mutation_p.D792H|NLRP11_uc002qmb.2_Missense_Mutation_p.D846H|NLRP11_uc002qmc.2_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 945 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) AGTACACAATCTGGGCTGATC 0.318 NA 11 50 0 0 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NA 4 13 0.000602214 0.0039904 1 0 ZNF329 79673 broad.mit.edu 37 19 58639337 58639337 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:58639337G>A uc002qrn.2 - 4 1771 c.1534C>T c.(1534-1536)CGG>TGG p.R512W ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 512 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TGAGGACACCGGCTGGGACCC 0.507 NA 63 106 0 0 0 0 SOX11 6664 broad.mit.edu 37 2 5833121 5833121 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr2:5833121C>T uc002qyj.2 + 1 323 c.268C>T c.(268-270)CTG>TTG p.L90L NM_003108 NP_003099 P35716 SOX11_HUMAN SRY-box 11 90 HMG box. cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(3) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) CTGGAAAATGCTGAAGGACAG 0.587 NA 15 48 0 0 0 0 ZNF512 84450 broad.mit.edu 37 2 27830785 27830785 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr2:27830785G>A uc002rla.2 + 10 1097 c.1010G>A c.(1009-1011)CGA>CAA p.R337Q ZNF512_uc010ylv.1_Missense_Mutation_p.R258Q|ZNF512_uc010ylw.1_Missense_Mutation_p.R308Q|ZNF512_uc002rlb.2_Missense_Mutation_p.R258Q|ZNF512_uc010ylx.1_Missense_Mutation_p.R258Q|ZNF512_uc002rlc.2_Missense_Mutation_p.R258Q|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Missense_Mutation_p.R230Q NM_032434 NP_115810 Q96ME7 ZN512_HUMAN zinc finger protein 512 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) AGTGGGGGCCGAGTTCAGAGA 0.512 NA 12 49 0 0 0 0 CCDC88A 55704 broad.mit.edu 37 2 55571557 55571557 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr2:55571557C>T uc002ryv.2 - 11 1977 c.1135G>A c.(1135-1137)GAA>AAA p.E379K CCDC88A_uc010yoz.1_Missense_Mutation_p.E379K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E379K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E281K NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 379 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TTTTCTAATTCATGTAATTTA 0.318 NA 8 58 0 0 0 0 OBSL1 23363 broad.mit.edu 37 2 220432935 220432935 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr2:220432935C>T uc010fwk.2 - 2 1181 c.1124G>A c.(1123-1125)CGT>CAT p.R375H OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R375H|OBSL1_uc002vmj.2_Translation_Start_Site NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 375 Ig-like 4. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CTGGTCCTCACGGAACCAGGC 0.637 NA OREG0003988 type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 31 0 0 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551696 1551696 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr20:1551696C>T uc010gai.2 - 4 938 c.839G>A c.(838-840)CGG>CAG p.R280Q SIRPB1_uc002wfk.3_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 280 Ig-like C1-type 2.|Extracellular (Potential). cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 CTGTAGTCCCCGGGGGTAGAA 0.537 NA 38 68 0 0 0 0 PAX1 5075 broad.mit.edu 37 20 21687285 21687285 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr20:21687285G>A uc002wsj.2 + 2 550 c.496G>A c.(496-498)GGG>AGG p.G166R PAX1_uc010zsl.1_Missense_Mutation_p.G166R|PAX1_uc010zsm.1_Missense_Mutation_p.G142R NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 166 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 CGGGGCCATCGGGGGGAGCAA 0.647 NA 18 89 0 0 0 0 C20orf4 25980 broad.mit.edu 37 20 34827959 34827959 + Missense_Mutation SNP T T G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr20:34827959T>G uc002xfc.1 + 2 262 c.169T>G c.(169-171)TTC>GTC p.F57V C20orf4_uc002xfd.1_Missense_Mutation_p.F57V|C20orf4_uc002xfe.1_Missense_Mutation_p.F57V NM_015511 NP_056326 Q9Y312 CT004_HUMAN hypothetical protein LOC25980 57 0 Breast(12;0.0162) Myeloproliferative disorder(115;0.0393) AGGCATCCACTTCCTCCACTA 0.572 NA 7 81 0 0 0 0 NCAM2 4685 broad.mit.edu 37 21 22804480 22804480 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr21:22804480G>A uc002yld.1 + 12 1782 c.1533G>A c.(1531-1533)ACG>ACA p.T511T NCAM2_uc011acb.1_Silent_p.T369T NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 511 Fibronectin type-III 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CGCAGACCACGGCCAAGGTTT 0.448 NA 6 48 0 0 0 0 HPS4 89781 broad.mit.edu 37 22 26849348 26849348 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr22:26849348C>T uc003acl.2 - 14 2637 c.1978G>A c.(1978-1980)GCC>ACC p.A660T HPS4_uc003aci.2_Missense_Mutation_p.A655T|HPS4_uc003acj.2_Missense_Mutation_p.A524T|HPS4_uc003ack.2_Missense_Mutation_p.A451T|HPS4_uc003acn.2_Missense_Mutation_p.A506T|HPS4_uc003ach.2_Missense_Mutation_p.A395T NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 660 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 TTGCAACAGGCGTACACAGCC 0.562 NA Hermansky-Pudlak_syndrome 16 105 0 0 0 0 SLC6A6 6533 broad.mit.edu 37 3 14499524 14499524 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr3:14499524C>T uc010heg.2 + 13 957 c.666C>T c.(664-666)CTC>CTT p.L222L SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Silent_p.L222L|SLC6A6_uc003byr.2_RNA NM_001134367 NP_001127839 P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter 222 Helical; Name=4; (Potential). cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity ovary(1) 1 ACCTCGCTCTCTGCCTTCTTT 0.547 NA 25 101 0 0 0 0 IL17RB 55540 broad.mit.edu 37 3 53883814 53883814 + Missense_Mutation SNP G G A rs145364776 by1000genomes TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr3:53883814G>A uc003dha.2 + 3 257 c.218G>A c.(217-219)CGG>CAG p.R73Q NM_018725 NP_061195 Q9NRM6 I17RB_HUMAN interleukin 17B receptor precursor 73 Extracellular (Potential). defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) TGGGTACTCCGGGCAGATGGT 0.333 NA 44 70 0 0 0 0 OR5H15 403274 broad.mit.edu 37 3 97887689 97887689 + Missense_Mutation SNP T T C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr3:97887689T>C uc011bgu.1 + 1 146 c.146T>C c.(145-147)ATC>ACC p.I49T NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 49 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATTGCTGTCATCTGGAAAGAC 0.423 NA 87 146 0 0 0 0 UCHL1 7345 broad.mit.edu 37 4 41265298 41265298 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:41265298C>T uc003gvo.2 + 7 612 c.516C>T c.(514-516)CTC>CTT p.L172L UCHL1_uc003gvp.2_Silent_p.L91L|UCHL1_uc003gvq.2_Silent_p.L91L|UCHL1_uc003gvr.2_Silent_p.L91L|UCHL1_uc003gvs.2_Silent_p.L91L NM_004181 NP_004172 P09936 UCHL1_HUMAN ubiquitin carboxyl-terminal esterase L1 172 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|skin(1) 2 ATGGCCACCTCTATGAACTTG 0.343 NA 12 90 0 0 0 0 C4orf31 79625 broad.mit.edu 37 4 121958733 121958733 + Silent SNP A A G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:121958733A>G uc003idq.1 - 4 920 c.393T>C c.(391-393)AAT>AAC p.N131N NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 131 0 ACTCAACATCATTGCCTTTGT 0.403 NA 15 63 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134072411 134072411 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:134072411G>A uc003iha.2 + 1 1942 c.1116G>A c.(1114-1116)GCG>GCA p.A372A uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.A372A NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 372 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AGGGCGCGGCGCCCGGCACTG 0.617 NA 13 95 0 0 0 0 CCRN4L 25819 broad.mit.edu 37 4 139965866 139965866 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:139965866C>T uc003ihl.2 + 3 727 c.534C>T c.(532-534)CTC>CTT p.L178L NM_012118 NP_036250 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like 178 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_hematologic(180;0.162) GGAAATGTCTCATCCTGGAAG 0.463 NA 21 74 0 0 0 0 NR3C2 4306 broad.mit.edu 37 4 149356634 149356634 + Missense_Mutation SNP A A T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:149356634A>T uc003ilj.3 - 2 1713 c.1379T>A c.(1378-1380)TTT>TAT p.F460Y NR3C2_uc003ilk.3_Missense_Mutation_p.F460Y|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 460 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ATCATCCATAAAGGAAAAATA 0.418 NA 10 52 0 0 0 0 TRIML2 205860 broad.mit.edu 37 4 189012783 189012783 + Missense_Mutation SNP C C A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:189012783C>A uc003izl.2 - 7 944 c.908G>T c.(907-909)TGG>TTG p.W303L TRIML2_uc003izj.1_Missense_Mutation_p.W131L|TRIML2_uc003izk.1_Missense_Mutation_p.W111L|TRIML2_uc011cle.1_Missense_Mutation_p.W378L NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 303 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GGGGAAGACCCAGAGAGTCCA 0.552 NA 35 124 8.42e-14 6.02e-13 1 0 RASA1 5921 broad.mit.edu 37 5 86674234 86674234 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr5:86674234G>T uc003kiw.2 + 18 2484 c.2366G>T c.(2365-2367)CGA>CTA p.R789L RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.R612L|RASA1_uc011ctv.1_Missense_Mutation_p.R622L|RASA1_uc011ctw.1_Missense_Mutation_p.R623L|RASA1_uc010jaw.2_Missense_Mutation_p.R611L NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 789 Ras-GAP. R -> A (in Ref. 4; AA sequence). cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ACCCTATTTCGAGCCACAACA 0.353 NA 16 25 1.68e-08 1.15e-07 1 0 PCDHA3 56145 broad.mit.edu 37 5 140182317 140182317 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr5:140182317C>T uc003lhf.2 + 1 1535 c.1535C>T c.(1534-1536)GCG>GTG p.A512V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A512V NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 512 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGTACACGCGGAGAGCGGC 0.706 NA 7 124 0 0 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114379 27114379 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr6:27114379C>T uc003nix.1 - 1 241 c.199G>A c.(199-201)GTC>ATC p.V67I HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080593 NP_542160 O60814 H2B1K_HUMAN histone cluster 1, H2bk 67 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 ATGTCGTTGACGAAGGAGTTC 0.592 NA 18 254 0 0 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44221057 44221058 + Missense_Mutation DNP CC CC AA TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr6:44221057_44221058CC>AA uc003oxa.1 + 11 2091_2092 c.2007_2008CC>AA c.(2005-2010)TCCCTT>TCAATT p.L670I HSP90AB1_uc011dvr.1_Missense_Mutation_p.L660I|HSP90AB1_uc003oxb.1_Missense_Mutation_p.L670I|HSP90AB1_uc011dvs.1_Missense_Mutation_p.L490I|HSP90AB1_uc003oxc.1_Missense_Mutation_p.L308I NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 670 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTGGCTTTTCCCTTGAGGATCC 0.525 NA 10 608 0 0 0 0 HIVEP2 3097 broad.mit.edu 37 6 143092672 143092672 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr6:143092672C>T uc003qjd.2 - 5 3947 c.3204G>A c.(3202-3204)ACG>ACA p.T1068T NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1068 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) ACGGTGATACCGTGGAGGCTG 0.557 NA 9 35 0 0 0 0 UTRN 7402 broad.mit.edu 37 6 144769778 144769778 + Nonsense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr6:144769778C>T uc003qkt.2 + 16 2037 c.1945C>T c.(1945-1947)CAG>TAG p.Q649* UTRN_uc010khq.1_Nonsense_Mutation_p.Q649* NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 649 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TCAGATTCCTCAGAAGGACCT 0.378 NA 10 78 0 0 0 0 STYXL1 51657 broad.mit.edu 37 7 75634686 75634686 + Missense_Mutation SNP C C T rs147059565 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr7:75634686C>T uc003uej.3 - 6 663 c.490G>A c.(490-492)GTG>ATG p.V164M STYXL1_uc003uef.2_Translation_Start_Site|STYXL1_uc011kgf.1_Missense_Mutation_p.V26M|STYXL1_uc011kgg.1_Missense_Mutation_p.V16M|STYXL1_uc003ueh.2_Missense_Mutation_p.V26M|STYXL1_uc003uek.3_Missense_Mutation_p.V68M|STYXL1_uc003uel.2_Missense_Mutation_p.V164M|STYXL1_uc003uem.2_Missense_Mutation_p.V164M|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.V164M|STYXL1_uc003uen.1_Missense_Mutation_p.V164M NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN map kinase phosphatase-like protein MK-STYX 164 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity 0 TTCCCTGGCACGATTTCAATG 0.478 NA 19 49 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82584839 82584839 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr7:82584839G>T uc003uhx.2 - 5 5719 c.5430C>A c.(5428-5430)GAC>GAA p.D1810E PCLO_uc003uhv.2_Missense_Mutation_p.D1810E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1741 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTTCATCTTTGTCTTTCTTTG 0.393 NA 32 145 5.6e-13 3.98e-12 1 0 DPP6 1804 broad.mit.edu 37 7 154681011 154681011 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr7:154681011G>A uc003wlk.2 + 24 2463 c.2334G>A c.(2332-2334)GCG>GCA p.A778A DPP6_uc003wli.2_Silent_p.A714A|DPP6_uc003wlm.2_Silent_p.A716A|DPP6_uc011kvq.1_Silent_p.A671A NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 778 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAGTCTCCGCGCTGGAAGAAC 0.537 NA 5 17 0 0 0 0 IKBKB 3551 broad.mit.edu 37 8 42175203 42175203 + Missense_Mutation SNP A A T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr8:42175203A>T uc003xow.1 + 12 1331 c.1154A>T c.(1153-1155)GAT>GTT p.D385V IKBKB_uc010lxh.1_Missense_Mutation_p.D280V|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.D162V|IKBKB_uc003xox.1_Missense_Mutation_p.D106V|IKBKB_uc011lcp.1_Intron|IKBKB_uc011lcq.1_Missense_Mutation_p.D383V|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.D326V NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 385 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TTGGACATGGATCTTGTTTTT 0.413 NA 13 49 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr9:21971186G>A uc003zpk.2 - 2 384 c.172C>T c.(172-174)CGA>TGA p.R58* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 58 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 7 0 0 0 0 NOX1 27035 broad.mit.edu 37 X 100099014 100099014 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chrX:100099014C>T uc004egj.2 - 13 1828 c.1622G>A c.(1621-1623)CGC>CAC p.R541H NOX1_uc004egl.3_Missense_Mutation_p.R492H|NOX1_uc010nne.2_Missense_Mutation_p.R504H NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 isoform long 541 Cytoplasmic (Potential). angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity ovary(1) 1 ACAGCATTTGCGCAGGCTCTT 0.428 NA 5 18 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135487937 135487937 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chrX:135487937G>A uc004ezu.1 + 23 9032 c.8741G>A c.(8740-8742)TGC>TAC p.C2914Y GPR112_uc010nsb.1_Missense_Mutation_p.C2709Y NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2914 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TCCATGTTCTGCACTGTTCTT 0.398 NA 24 65 0 0 0 0 SIRT1 23411 broad.mit.edu 37 10 69644867 69644869 + In_Frame_Del DEL GAG GAG - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr10:69644867_69644869delGAG uc001jnd.2 + 1 441_443 c.388_390delGAG c.(388-390)GAGdel p.E134del SIRT1_uc010qis.1_5'Flank|SIRT1_uc009xpp.2_5'Flank NM_012238 NP_036370 Q96EB6 SIRT1_HUMAN sirtuin 1 isoform a 134 Interaction with HIST1H1E.|Poly-Glu. apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding 0 cgacgagggcgaggaggaggaag 0.507 NA 2 4 --- --- --- --- NA NA NA NA OR8J3 81168 broad.mit.edu 37 11 55904668 55904671 + Frame_Shift_Del DEL TGAT TGAT - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr11:55904668_55904671delTGAT uc010riz.1 - 1 524_527 c.524_527delATCA c.(523-528)AATCATfs p.N175fs NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 175_176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) ACAGTAAAAATGATTGATTATATT 0.358 NA 11 106 --- --- --- --- NA NA NA NA EEA1 8411 broad.mit.edu 37 12 93205154 93205158 + Frame_Shift_Del DEL CTTGT CTTGT - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:93205154_93205158delCTTGT uc001tck.2 - 17 2361_2365 c.2096_2100delACAAG c.(2095-2100)GACAAGfs p.D699fs NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 699_700 Gln/Glu/Lys-rich.|Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 AATGTTCTTGCTTGTCTTGTAACTT 0.337 NA 7 38 --- --- --- --- NA NA NA NA TM9SF2 9375 broad.mit.edu 37 13 100206567 100206570 + Frame_Shift_Del DEL CACC CACC - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr13:100206567_100206570delCACC uc001voj.1 + 14 1631_1634 c.1498_1501delCACC c.(1498-1503)CACCCAfs p.H500fs TM9SF2_uc010afz.1_Frame_Shift_Del_p.H335fs NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor 500_501 Cytoplasmic (Potential). transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) GGCCATTGAACACCCAGTTCGAAC 0.417 NA 23 94 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578446 7578466 + In_Frame_Del DEL TGGCCATGGCGCGGACGCGGG TGGCCATGGCGCGGACGCGGG - rs139200646 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr17:7578446_7578466delTGGCCATGGCGCGGACGCGGG uc002gim.2 - 5 658_678 c.464_484delCCCGCGTCCGCGCCATGGCCA c.(463-486)ACCCGCGTCCGCGCCATGGCCATC>ATC p.TRVRAMA155del TP53_uc002gig.1_In_Frame_Del_p.TRVRAMA155del|TP53_uc002gih.2_In_Frame_Del_p.TRVRAMA155del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.TRVRAMA23del|TP53_uc010cng.1_In_Frame_Del_p.TRVRAMA23del|TP53_uc002gii.1_In_Frame_Del_p.TRVRAMA23del|TP53_uc010cnh.1_In_Frame_Del_p.TRVRAMA155del|TP53_uc010cni.1_In_Frame_Del_p.TRVRAMA155del|TP53_uc002gij.2_In_Frame_Del_p.TRVRAMA155del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.TRVRAMA62del|TP53_uc002gio.2_In_Frame_Del_p.TRVRAMA23del|TP53_uc010vug.1_In_Frame_Del_p.TRVRAMA116del NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 155_161 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (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.V157F(139)|p.R158H(58)|p.R158L(55)|p.A161T(44)|p.A159V(30)|p.R156P(24)|p.T155N(19)|p.R158C(17)|p.T155P(14)|p.A159P(13)|p.V157I(10)|p.R156H(10)|p.T155I(10)|p.R158G(10)|p.R158P(9)|p.I162F(8)|p.V157D(8)|p.A159A(8)|p.A161D(8)|p.R156fs*14(8)|p.V157G(7)|p.A159T(7)|p.A159D(7)|p.A161V(7)|p.T155A(7)|p.0?(7)|p.V157L(6)|p.M160I(6)|p.R158R(6)|p.V157V(5)|p.A159fs*11(5)|p.I162V(5)|p.R158fs*12(5)|p.A161A(5)|p.T155T(5)|p.A159S(4)|p.R158_A159insX(4)|p.M160K(4)|p.M160V(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.M160fs*10(3)|p.A161fs*9(3)|p.R156L(3)|p.M160L(3)|p.P152fs*14(3)|p.V157fs*13(3)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.R156C(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.A159fs*21(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.R158_A159delRA(2)|p.I162fs*19(2)|p.P153fs*22(2)|p.T155S(2)|p.V157A(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.M160_A161>IS(1)|p.V157_R158delVR(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.A161F(1)|p.A161G(1)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.M160T(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.D148_T155delDSTPPPGT(1)|p.A161fs*20(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.V157_M160delVRAM(1)|p.A161fs*7(1)|p.T155fs*15(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.T155fs*26(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.A161fs*10(1)|p.I162_Y163delIY(1)|p.T155_R156delTR(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.P151_V173del23(1)|p.I162fs*8(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(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) TGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGG 0.62 111 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) 10 45 --- --- --- --- NA NA NA NA PRR12 57479 broad.mit.edu 37 19 50100303 50100305 + In_Frame_Del DEL CGG CGG - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:50100303_50100305delCGG uc002poo.3 + 4 2711_2713 c.2711_2713delCGG c.(2710-2715)TCGGAG>TAG p.904_905SE>* NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 83_84 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCACCAAACTCGGAGGGCAAGGA 0.69 NA 3 4 --- --- --- --- NA NA NA NA TKTL1 8277 broad.mit.edu 37 X 153524304 153524305 + Frame_Shift_Ins INS - - GC TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chrX:153524304_153524305insGC uc004fkg.2 + 1 278_279 c.92_93insGC c.(91-93)TTGfs p.L31fs TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Frame_Shift_Ins_p.L31fs|TKTL1_uc011mzm.1_Frame_Shift_Ins_p.L31fs NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 31 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCAGCCGCTTGCGAATCCATT 0.614 NA 30 129 --- --- --- --- NA NA NA NA