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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut KIF1B 23095 broad.mit.edu 37 1 10421830 10421830 + Silent SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:10421830A>T uc001aqx.3 + 40 4453 c.4251A>T c.(4249-4251)CCA>CCT p.P1417P KIF1B_uc001aqw.3_Silent_p.P1371P|KIF1B_uc001aqy.2_Silent_p.P1391P|KIF1B_uc001aqz.2_Silent_p.P1417P|KIF1B_uc001ara.2_Silent_p.P1377P|KIF1B_uc001arb.2_Silent_p.P1403P NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1417 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AGATCTCACCACCACGCTCTC 0.502 NA 86 59 0 0 0.01441 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885059 12885059 + Missense_Mutation SNP C C G rs143004725 by1000genomes TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:12885059C>G uc001auk.2 - 4 1248 c.1052G>C c.(1051-1053)TGC>TCC p.C351S NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 351 LRR 6. 0 GGTGGCCATGCAGATGGGATT 0.532 NA 4 242 0 0 0.009096 0 0 EIF2C3 192669 broad.mit.edu 37 1 36469988 36469988 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:36469988G>T uc001bzp.2 + 6 961 c.705G>T c.(703-705)ATG>ATT p.M235I EIF2C3_uc001bzq.2_Missense_Mutation_p.M1I NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 235 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTCAGTTCATGTGTGAAGTTC 0.328 Colon(144;60 2363 31043 40539) NA 47 29 1.00776e-21 2.19724e-21 0.01441 1 0 SNIP1 79753 broad.mit.edu 37 1 38019710 38019710 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:38019710G>A uc001cbi.2 - 1 194 c.121C>T c.(121-123)CCC>TCC p.P41S SNIP1_uc010oid.1_RNA|DNALI1_uc001cbj.2_5'Flank|DNALI1_uc010oie.1_5'Flank NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 41 production of miRNAs involved in gene silencing by miRNA nucleus protein binding upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) CGGTGGGCGGGAGGTGCGACT 0.741 NA 8 16 0 0 0.00308 0 0 PTCH2 8643 broad.mit.edu 37 1 45294203 45294203 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:45294203G>A uc010olf.1 - 12 1577 c.1565C>T c.(1564-1566)CCT>CTT p.P522L PTCH2_uc010olg.1_Missense_Mutation_p.P220L NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 522 SSD.|Helical; (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) TCGCAGCGCAGGGATGGGAAC 0.632 NA Basal_Cell_Nevus_syndrome 26 14 0 0 0.004656 0 0 LRRC7 57554 broad.mit.edu 37 1 70518799 70518799 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:70518799G>A uc001dep.2 + 21 4117 c.4087G>A c.(4087-4089)GAT>AAT p.D1363N LRRC7_uc009wbg.2_Missense_Mutation_p.D647N|LRRC7_uc001deq.2_Missense_Mutation_p.D557N NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1363 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TGGGAGGCGGGATGTACCTCC 0.393 NA 46 12 0 0 0.011902 0 0 ACADM 34 broad.mit.edu 37 1 76205782 76205782 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:76205782G>A uc001dgw.3 + 7 1016 c.586G>A c.(586-588)GGA>AGA p.G196R ACADM_uc010orc.1_3'UTR|ACADM_uc010ord.1_Missense_Mutation_p.G110R|ACADM_uc009wbp.2_Missense_Mutation_p.G200R|ACADM_uc009wbr.2_Missense_Mutation_p.G229R|ACADM_uc010ore.1_Missense_Mutation_p.G160R|ACADM_uc010orf.1_Missense_Mutation_p.G7R|ACADM_uc001dgx.3_Missense_Mutation_p.G110R|ACADM_uc010org.1_Missense_Mutation_p.G66R NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a 196 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 AACCAACGGAGGAAAAGCTAA 0.328 NA 29 29 0 0 0.013726 0 0 CDC14A 8556 broad.mit.edu 37 1 100928316 100928316 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:100928316C>T uc001dtg.3 + 9 1205 c.717C>T c.(715-717)GAC>GAT p.D239D CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Silent_p.D181D|CDC14A_uc001dte.3_Silent_p.D239D|CDC14A_uc001dtf.2_Silent_p.D239D|CDC14A_uc009wed.1_Translation_Start_Site|CDC14A_uc009wee.2_Silent_p.D239D NM_003672 NP_003663 Q9UNH5 CC14A_HUMAN CDC14 homolog A isoform 1 239 B. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1) 1 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) GCTTCACAGACGCTGGCTTCG 0.473 NA 19 46 0 0 0.007413 0 0 SORT1 6272 broad.mit.edu 37 1 109867652 109867652 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:109867652T>C uc001dxm.1 - 14 1752 c.1703A>G c.(1702-1704)TAT>TGT p.Y568C SORT1_uc010ovi.1_Missense_Mutation_p.Y431C NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 568 Extracellular (Potential). endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GCCAGTGAAATAGATGGGGTC 0.488 NA 37 26 0 0 0.004878 0 0 FLG 2312 broad.mit.edu 37 1 152280380 152280380 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:152280380C>T uc001ezu.1 - 3 7018 c.6982G>A c.(6982-6984)GAG>AAG p.E2328K NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2328 Ser-rich.|Filaggrin 14. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGTGTCTCTCTCCTGCACTT 0.552 NA Ichthyosis 378 489 0 0 0.01441 0 0 IQGAP3 128239 broad.mit.edu 37 1 156532985 156532985 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:156532985C>T uc001fpf.2 - 8 814 c.739G>A c.(739-741)GTC>ATC p.V247I IQGAP3_uc009wsb.1_Missense_Mutation_p.V204I NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 247 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCTTGGTAGACGGCTGCCAGA 0.567 NA 47 290 0 0 0.013114 0 0 NES 10763 broad.mit.edu 37 1 156639506 156639506 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:156639506T>A uc001fpq.2 - 4 4607 c.4474A>T c.(4474-4476)AGT>TGT p.S1492C NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1492 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGCTCAGCACTGTCCTGGGAC 0.592 NA 38 89 0 0 0.006999 0 0 ADCY10 55811 broad.mit.edu 37 1 167830185 167830185 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:167830185G>A uc001ger.2 - 15 2031 c.1733C>T c.(1732-1734)ACC>ATC p.T578I ADCY10_uc009wvk.2_Missense_Mutation_p.T486I|ADCY10_uc010plj.1_Missense_Mutation_p.T425I|ADCY10_uc009wvl.2_Missense_Mutation_p.T577I NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 578 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 TCGAAGGTTGGTCTGTCGTTC 0.363 NA 31 213 0 0 0.012213 0 0 SELE 6401 broad.mit.edu 37 1 169698396 169698396 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:169698396A>T uc001ggm.3 - 7 1178 c.1021T>A c.(1021-1023)TTG>ATG p.L341M C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 341 Extracellular (Potential).|Sushi 3. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) GGTCCCTGCAACATGAAGCCT 0.517 NA 63 80 0 0 0.01441 0 0 SLC9A11 284525 broad.mit.edu 37 1 173493964 173493964 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:173493964C>A uc001giz.2 - 20 2891 c.2468G>T c.(2467-2469)TGT>TTT p.C823F SLC9A11_uc009wwe.2_Missense_Mutation_p.C381F|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 823 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 GCCTCTTGAACAAAGGAAGGT 0.398 NA 44 152 9.39024e-22 2.0558e-21 0.009718 1 0 UCHL5 51377 broad.mit.edu 37 1 192985498 192985498 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:192985498C>A uc001gsm.2 - 11 1104 c.973G>T c.(973-975)GCT>TCT p.A325S UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Missense_Mutation_p.A324S|UCHL5_uc010pov.1_RNA NM_015984 NP_057068 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 325 Interaction with ADRM1. DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|ovary(1) 3 GTTTCCTGAGCTTTCTTTGCG 0.284 NA 84 267 2.16659e-41 5.59527e-41 0.01441 1 0 CFHR5 81494 broad.mit.edu 37 1 196971705 196971705 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:196971705C>T uc001gts.3 + 8 1369 c.1241C>T c.(1240-1242)GCT>GTT p.A414V NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 414 Sushi 7. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 GAAAAAGTAGCTGTTCTCTGT 0.388 NA 43 48 0 0 0.007835 0 0 NR5A2 2494 broad.mit.edu 37 1 200012997 200012997 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:200012997C>A uc001gvb.2 + 3 504 c.298C>A c.(298-300)CTC>ATC p.L100I NR5A2_uc001gvc.2_Missense_Mutation_p.L54I|NR5A2_uc009wzh.2_Missense_Mutation_p.L60I|NR5A2_uc010pph.1_Missense_Mutation_p.L28I NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 100 Nuclear receptor.|NR C4-type. embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) CCATTATGGGCTCCTCACCTG 0.398 Melanoma(179;1138 2773 15678 26136) NA 24 46 1.85244e-09 3.38659e-09 0.00333 1 0 RCOR3 55758 broad.mit.edu 37 1 211486235 211486235 + Missense_Mutation SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:211486235A>G uc001hig.2 + 10 1244 c.1075A>G c.(1075-1077)ACT>GCT p.T359A RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.T417A|RCOR3_uc010psw.1_Missense_Mutation_p.T417A|RCOR3_uc001hif.2_Intron|RCOR3_uc009xcz.2_RNA NM_018254 NP_060724 Q9P2K3 RCOR3_HUMAN REST corepressor 3 isoform d 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) TGATGCTTCTACTTTAGGGGA 0.443 NA 64 122 0 0 0.01441 0 0 USH2A 7399 broad.mit.edu 37 1 216166400 216166400 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:216166400G>T uc001hku.1 - 35 7154 c.6767C>A c.(6766-6768)TCC>TAC p.S2256Y NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2256 Fibronectin type-III 9.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GACATTAAAGGAGTCAGGTGA 0.473 NA HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 319 364 6.11876e-135 1.79844e-134 0.01441 1 0 USH2A 7399 broad.mit.edu 37 1 216497666 216497666 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:216497666C>A uc001hku.1 - 7 1559 c.1172G>T c.(1171-1173)AGT>ATT p.S391I USH2A_uc001hkv.2_Missense_Mutation_p.S391I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 391 Laminin N-terminal.|Extracellular (Potential). S -> I (in USH2A; uncertain pathogenicity). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGTTGTGGACTAAAGAACTG 0.318 NA HNSCC(13;0.011) 11 48 2.80697e-09 5.09662e-09 0.010729 1 0 ZNF678 339500 broad.mit.edu 37 1 227838768 227838768 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:227838768G>T uc001hqw.1 + 3 421 c.76G>T c.(76-78)GTT>TTT p.V26F ZNF678_uc009xet.1_RNA|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 81 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) ttataaactggtttatacagg 0.01 NA 133 288 2.44662e-51 6.64082e-51 0.01441 1 0 TRIM11 81559 broad.mit.edu 37 1 228582544 228582544 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:228582544C>A uc001hss.2 - 6 1524 c.1269G>T c.(1267-1269)GGG>GGT p.G423G TRIM11_uc010pvx.1_Silent_p.G422G NM_145214 NP_660215 Q96F44 TRI11_HUMAN tripartite motif-containing 11 423 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding lung(3)|ovary(1) 4 Prostate(94;0.0724) ATAGCAGTGACCCATCGGTGG 0.632 NA 56 69 5.22555e-25 1.16806e-24 0.01441 1 0 TRIM17 51127 broad.mit.edu 37 1 228602468 228602468 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:228602468G>T uc001hsu.2 - 2 691 c.306C>A c.(304-306)CAC>CAA p.H102Q TRIM17_uc001hsv.2_Missense_Mutation_p.H102Q|TRIM17_uc001hsw.2_Missense_Mutation_p.H75Q|TRIM17_uc009xfb.2_Missense_Mutation_p.H102Q NM_016102 NP_057186 Q9Y577 TRI17_HUMAN tripartite motif-containing 17 isoform 1 102 B box-type. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Prostate(94;0.0724) GGGGCTCGTGGTGCTCCTGGC 0.662 NA 76 105 8.2577e-42 2.14297e-41 0.01441 1 0 OR13G1 441933 broad.mit.edu 37 1 247836209 247836209 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:247836209G>A uc001idi.1 - 1 135 c.135C>T c.(133-135)GCC>GCT p.A45A NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 45 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TATAGATTTTGGCAATGATGA 0.438 NA 40 50 0 0 0.00874 0 0 OR2M1P 388762 broad.mit.edu 37 1 248285441 248285441 + Missense_Mutation SNP G G T rs6587422 by1000genomes TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:248285441G>T uc001idy.1 + 1 4 c.4G>T c.(4-6)GAC>TAC p.D2Y NR_002141 RecName: Full=Olfactory receptor 2M5; 0 GTCCCCCATGGACGTCAGGCT 0.522 NA 194 327 1.52457e-88 4.40799e-88 0.01441 1 0 OR2T11 127077 broad.mit.edu 37 1 248790195 248790195 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:248790195G>A uc001ier.1 - 1 235 c.235C>T c.(235-237)CTG>TTG p.L79L NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGTCTGCCAGGAGTTTTGGG 0.493 NA 46 34 0 0 0.013114 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256130 15256130 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:15256130C>A uc001iob.2 - 8 1464 c.1457G>T c.(1456-1458)AGG>ATG p.R486M NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 486 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GTAACTACCCCTGTAGTCATC 0.478 NA 41 125 2.95478e-19 6.33847e-19 0.00874 1 0 CUBN 8029 broad.mit.edu 37 10 16975228 16975228 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:16975228C>A uc001ioo.2 - 40 6034 c.5982G>T c.(5980-5982)CCG>CCT p.P1994P NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1994 CUB 14. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGGCCAGCCCGGGGAGAAGA 0.507 NA 25 72 1.26454e-06 2.19849e-06 0.005443 1 0 GPR158 57512 broad.mit.edu 37 10 25887469 25887469 + Nonsense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:25887469A>T uc001isj.2 + 11 2974 c.2914A>T c.(2914-2916)AAA>TAA p.K972* GPR158_uc001isk.2_Nonsense_Mutation_p.K347* NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 972 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AAAGCCTCAGAAATCTGGGAT 0.463 NA 40 150 0 0 0.00874 0 0 GAD2 2572 broad.mit.edu 37 10 26581399 26581399 + Silent SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:26581399T>A uc001isp.2 + 14 1895 c.1392T>A c.(1390-1392)ACT>ACA p.T464T GAD2_uc001isq.2_Silent_p.T464T NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 464 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CCTAGGGGACTACCGGGTTTG 0.463 NA 16 65 0 0 0.004007 0 0 MTPAP 55149 broad.mit.edu 37 10 30615475 30615475 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:30615475C>G uc001iva.3 - 5 933 c.870G>C c.(868-870)GAG>GAC p.E290D MTPAP_uc001ivb.3_Missense_Mutation_p.E420D NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 290 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 GGTCAAGGCACTCTCCTAACA 0.443 NA 125 169 0 0 0.01441 0 0 ENTPD7 57089 broad.mit.edu 37 10 101439629 101439629 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:101439629A>T uc001kqa.3 + 5 723 c.545A>T c.(544-546)GAG>GTG p.E182V ENTPD7_uc009xwl.2_Missense_Mutation_p.E184V NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 182 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) CTTCTCCCTGAGAGGTGAGAT 0.537 NA 55 100 0 0 0.01441 0 0 LZTS2 84445 broad.mit.edu 37 10 102763434 102763434 + Silent SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:102763434C>G uc001ksj.2 + 3 648 c.579C>G c.(577-579)TCC>TCG p.S193S LZTS2_uc010qpw.1_Silent_p.S193S|LZTS2_uc001ksk.2_Silent_p.S193S|LZTS2_uc001ksl.2_Silent_p.S193S|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 193 Ser-rich.|Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) cctcctcttcctcctcctctt 0.547 Esophageal Squamous(8;38 437 13604 19902 37640) NA 78 365 0 0 0.01441 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118202577 118202577 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:118202577C>A uc001lcl.3 + 3 316 c.215C>A c.(214-216)GCG>GAG p.A72E NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 72 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) GAGATCAGTGCGGTTAATTCT 0.363 NA 10 16 0.000442599 0.000735821 0.006214 1 0 KCNK18 338567 broad.mit.edu 37 10 118969418 118969418 + Nonsense_Mutation SNP G G T rs3026042 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:118969418G>T uc010qsr.1 + 3 763 c.763G>T c.(763-765)GAA>TAA p.E255* NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 255 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) CTCGTGTCCCGAACTGGTGTT 0.532 NA 68 109 2.36135e-34 5.78913e-34 0.01441 1 0 CPXM2 119587 broad.mit.edu 37 10 125526525 125526525 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:125526525A>G uc001lhk.1 - 10 1768 c.1443T>C c.(1441-1443)ATT>ATC p.I481I CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 481 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CAGGGATTGCAATATAGTGAT 0.453 NA 57 98 0 0 0.01441 0 0 DOCK1 1793 broad.mit.edu 37 10 128925932 128925932 + Splice_Site SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:128925932G>T uc001ljt.2 + 27 2753 c.2689_splice c.e27-1 p.G897_splice DOCK1_uc010qun.1_Splice_Site_p.G918_splice NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TCCTTCCCCAGGGGCCAACCC 0.473 NA 26 80 2.48779e-11 4.72681e-11 0.005443 1 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642979 1642979 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:1642979C>A uc009ycy.1 - 3 570 c.483G>T c.(481-483)GGG>GGT p.G161G NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 175 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCTTGGAACCCCCACAGGAGC 0.662 NA 72 103 3.53432e-41 9.08338e-41 0.01441 1 0 OR51F1 256892 broad.mit.edu 37 11 4790612 4790612 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:4790612G>A uc010qyl.1 - 1 536 c.536C>T c.(535-537)TCC>TTC p.S179F NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 179 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) GTAACAATAGGAGTGAGAAAG 0.393 NA 44 68 0 0 0.011902 0 0 OR2AG2 338755 broad.mit.edu 37 11 6790080 6790080 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:6790080A>T uc001meq.1 - 1 109 c.109T>A c.(109-111)TTG>ATG p.L37M NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTCAGTGCCAACATGTATAGG 0.537 NA 61 84 0 0 0.01441 0 0 SPON1 10418 broad.mit.edu 37 11 14063147 14063148 + Missense_Mutation DNP GG GG CC TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:14063147_14063148GG>CC uc001mle.2 + 3 963_964 c.425_426GG>CC c.(424-426)CGG>CCC p.R142P NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 142 Reelin. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) AGGAGGACCCGGATCCAGGTGT 0.475 NA 93 133 0 0 0.004672 0 0 INSC 387755 broad.mit.edu 37 11 15134022 15134022 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:15134022C>A uc001mly.2 + 1 53 c.7C>A c.(7-9)CGG>AGG p.R3R INSC_uc001mlz.2_5'Flank NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 3 cell differentiation|nervous system development cytoplasm binding p.R3W(1) upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 AGCCATGAGACGGCCCCCTGG 0.627 NA 40 48 1.02591e-13 2.01395e-13 0.010771 1 0 OR4A15 81328 broad.mit.edu 37 11 55136137 55136137 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:55136137G>T uc010rif.1 + 1 778 c.778G>T c.(778-780)GGG>TGG p.G260W NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 260 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAGTTTGGAAGGGAAACGAAA 0.428 NA 97 107 2.42943e-58 6.73156e-58 0.01441 1 0 OR10Q1 219960 broad.mit.edu 37 11 57996156 57996156 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:57996156A>G uc010rkd.1 - 1 192 c.192T>C c.(190-192)TAT>TAC p.Y64Y NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) ACAGGAAGAAATACATCGGGG 0.527 NA 26 96 0 0 0.005443 0 0 AHNAK 79026 broad.mit.edu 37 11 62292534 62292534 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:62292534C>T uc001ntl.2 - 5 9655 c.9355G>A c.(9355-9357)GAC>AAC p.D3119N AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3119 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ACTTTCATGTCACCTTCCACT 0.478 NA 47 564 0 0 0.01441 0 0 SLC22A25 387601 broad.mit.edu 37 11 62932091 62932091 + Missense_Mutation SNP C C T rs148517822 byFrequency TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:62932091C>T uc001nwr.1 - 8 1301 c.1301G>A c.(1300-1302)CGT>CAT p.R434H SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 434 Extracellular (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 CAAAACCACACGCAGGGTCTG 0.478 NA 41 47 0 0 0.007835 0 0 RTN3 10313 broad.mit.edu 37 11 63449190 63449190 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:63449190G>T uc001nxq.2 + 1 269 c.82G>T c.(82-84)GGC>TGC p.G28C RTN3_uc001nxo.2_Missense_Mutation_p.G28C|RTN3_uc001nxm.2_Missense_Mutation_p.G28C|RTN3_uc001nxn.2_Missense_Mutation_p.G28C|RTN3_uc001nxp.2_Missense_Mutation_p.G28C|RTN3_uc009yov.2_Missense_Mutation_p.G28C|RTN3_uc010rmt.1_RNA|RTN3_uc010rmu.1_Missense_Mutation_p.G28C NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 28 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 GCCCGGCGGCGGCGGGAGCCC 0.746 NA 12 13 1.15088e-07 2.03411e-07 0.004007 1 0 MOGAT2 80168 broad.mit.edu 37 11 75438556 75438556 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:75438556G>T uc010rru.1 + 3 347 c.347G>T c.(346-348)GGA>GTA p.G116V MOGAT2_uc001oww.1_Missense_Mutation_p.G116V|MOGAT2_uc010rrv.1_Missense_Mutation_p.G34V NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 116 Helical; (Potential). glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) CTGGCAGTCGGAGCCTTTGCC 0.607 NA 33 92 5.8336e-16 1.2029e-15 0.003271 1 0 OR10G4 390264 broad.mit.edu 37 11 123886668 123886668 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:123886668C>A uc010sac.1 + 1 387 c.387C>A c.(385-387)CTC>CTA p.L129L NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTTACCCGCTCAGGTACACCA 0.552 NA 51 239 6.2918e-36 1.56413e-35 0.01441 1 0 OR10G7 390265 broad.mit.edu 37 11 123908791 123908791 + Silent SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:123908791T>C uc001pzq.1 - 1 918 c.918A>G c.(916-918)GTA>GTG p.V306V NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CCTGAGCAAATACTGACCCAT 0.353 NA 36 47 0 0 0.00623 0 0 FOXM1 2305 broad.mit.edu 37 12 2975569 2975569 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:2975569T>A uc001qlf.2 - 5 1230 c.965A>T c.(964-966)CAG>CTG p.Q322L FOXM1_uc001qle.2_Missense_Mutation_p.Q322L|FOXM1_uc001qlg.2_Missense_Mutation_p.Q322L|FOXM1_uc009zea.2_Missense_Mutation_p.Q321L|FOXM1_uc009zeb.2_Missense_Mutation_p.Q321L NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 322 Fork-head. cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CTTAAACACCTGGTCCAATGT 0.498 NA 79 92 0 0 0.01441 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 17 25 1.5739e-10 2.91747e-10 0.004007 1 0 MLL2 8085 broad.mit.edu 37 12 49445287 49445287 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:49445287G>A uc001rta.3 - 10 2179 c.2179C>T c.(2179-2181)CCA>TCA p.P727S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 727 Pro-rich. Missing (in Ref. 1; AAC51734). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCAGGTAGTGGCAACAGGGGT 0.692 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 59 113 0 0 0.01441 0 0 SP1 6667 broad.mit.edu 37 12 53800380 53800380 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:53800380G>T uc001scw.2 + 4 1784 c.1687G>T c.(1687-1689)GCT>TCT p.A563S SP1_uc010sog.1_Missense_Mutation_p.A556S NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 563 Transactivation domain C (highly charged). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) TGATCATGGAGCTCAGCTTGG 0.502 NA 60 94 6.60958e-23 1.45301e-22 0.01441 1 0 TARBP2 6895 broad.mit.edu 37 12 53899526 53899526 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:53899526C>A uc001sdo.2 + 8 1323 c.835C>A c.(835-837)CTC>ATC p.L279I TARBP2_uc001sdp.2_Missense_Mutation_p.L258I|TARBP2_uc001sdq.2_Missense_Mutation_p.L135I|TARBP2_uc001sdr.2_Missense_Mutation_p.L135I|TARBP2_uc001sds.2_Missense_Mutation_p.P236H|TARBP2_uc001sdt.2_Missense_Mutation_p.L258I|TARBP2_uc001sdu.2_Missense_Mutation_p.L135I|TARBP2_uc001sdv.2_RNA NM_134323 NP_599150 Q15633 TRBP2_HUMAN TAR RNA binding protein 2 isoform a 279 Sufficient for interaction with DICER1. miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1) 1 GATCCTGTCCCTCCGCAGTTG 0.617 NA 8 297 0.00307968 0.00507241 0.00308 1 0 OR6C1 390321 broad.mit.edu 37 12 55714896 55714896 + Silent SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:55714896T>A uc010spi.1 + 1 513 c.513T>A c.(511-513)ATT>ATA p.I171I NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 GGTCTAATATTATTGACCATT 0.373 NA 31 78 0 0 0.009535 0 0 PTPRB 5787 broad.mit.edu 37 12 70956688 70956688 + Nonsense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:70956688G>T uc001swb.3 - 14 3480 c.3450C>A c.(3448-3450)TAC>TAA p.Y1150* PTPRB_uc010sto.1_Nonsense_Mutation_p.Y1060*|PTPRB_uc010stp.1_Nonsense_Mutation_p.Y1060*|PTPRB_uc001swc.3_Nonsense_Mutation_p.Y1368*|PTPRB_uc001swa.3_Nonsense_Mutation_p.Y1280*|PTPRB_uc001swd.3_Nonsense_Mutation_p.Y1367*|PTPRB_uc009zrr.1_Nonsense_Mutation_p.Y1247* NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1150 Fibronectin type-III 13.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCACCATCTTGTACATTCTGC 0.453 NA 58 115 5.19286e-32 1.26146e-31 0.01441 1 0 NAV3 89795 broad.mit.edu 37 12 78225190 78225190 + Translation_Start_Site SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:78225190C>A uc001syp.2 + 1 122 c.-51C>A c.(-53--49)GACTG>GAATG NAV3_uc001syo.2_Translation_Start_Site NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GTCTACCAGACTGAGGTTAGA 0.373 NA HNSCC(70;0.22) 194 376 4.36549e-90 1.26909e-89 0.01441 1 0 SLC6A15 55117 broad.mit.edu 37 12 85279240 85279240 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:85279240G>T uc001szv.2 - 4 1041 c.548C>A c.(547-549)CCT>CAT p.P183H SLC6A15_uc010sul.1_Missense_Mutation_p.P76H|SLC6A15_uc001szy.2_Missense_Mutation_p.P183H NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 183 Extracellular (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 TTTCACCAAAGGACACTGATC 0.373 NA 56 90 6.3091e-27 1.44674e-26 0.01441 1 0 MGAT4C 25834 broad.mit.edu 37 12 86373526 86373526 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:86373526C>A uc001tai.3 - 8 2228 c.978G>T c.(976-978)AAG>AAT p.K326N MGAT4C_uc001tal.3_Missense_Mutation_p.K326N|MGAT4C_uc001taj.3_Missense_Mutation_p.K326N|MGAT4C_uc001tak.3_Missense_Mutation_p.K326N|MGAT4C_uc010sum.1_Missense_Mutation_p.K350N|MGAT4C_uc001tah.3_Missense_Mutation_p.K326N NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 326 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 AATCATCATCCTTCAGCTTAT 0.408 NA 33 68 4.74835e-14 9.46114e-14 0.010818 1 0 NR1H4 9971 broad.mit.edu 37 12 100904815 100904815 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:100904815C>A uc001tht.1 + 2 397 c.369C>A c.(367-369)CGC>CGA p.R123R NR1H4_uc001thp.1_Silent_p.R113R|NR1H4_uc001thq.1_Silent_p.R113R|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.R113R|NR1H4_uc010svk.1_Silent_p.R113R|NR1H4_uc001ths.1_Silent_p.R123R NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 123 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 AGAAGCCCCGCATGGGCGCGT 0.527 NA 53 122 2.48254e-18 5.28285e-18 0.01441 1 0 STAB2 55576 broad.mit.edu 37 12 104133198 104133198 + Silent SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:104133198T>C uc001tjw.2 + 54 5892 c.5706T>C c.(5704-5706)TGT>TGC p.C1902C STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1902 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AGGGGGAGTGTGGGAGCTGTG 0.413 NA 16 114 0 0 0.004007 0 0 ACACB 32 broad.mit.edu 37 12 109577847 109577847 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:109577847C>T uc001tob.2 + 2 756 c.637C>T c.(637-639)CGC>TGC p.R213C ACACB_uc001toc.2_Missense_Mutation_p.R213C NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 213 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) AGCTGAGACCCGCGTCCCCAC 0.587 NA 42 86 0 0 0.011902 0 0 CAMKK2 10645 broad.mit.edu 37 12 121701685 121701685 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:121701685C>A uc001tzu.2 - 6 807 c.683G>T c.(682-684)GGC>GTC p.G228V CAMKK2_uc001tzt.2_Missense_Mutation_p.G228V|CAMKK2_uc001tzv.2_Missense_Mutation_p.G228V|CAMKK2_uc001tzw.2_Missense_Mutation_p.G228V|CAMKK2_uc001tzx.2_Missense_Mutation_p.G228V|CAMKK2_uc001tzy.2_Missense_Mutation_p.G228V|CAMKK2_uc001uaa.1_Missense_Mutation_p.G228V|CAMKK2_uc001uab.2_Missense_Mutation_p.G228V|CAMKK2_uc001uac.2_Missense_Mutation_p.G228V NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase 228 Protein kinase. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity lung(1)|large_intestine(1)|stomach(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTCAATGGGGCCCCTGGGCTG 0.607 NA 34 49 1.22384e-17 2.57344e-17 0.013726 1 0 WDR66 144406 broad.mit.edu 37 12 122396894 122396894 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:122396894T>C uc009zxk.2 + 13 2169 c.2027T>C c.(2026-2028)CTT>CCT p.L676P NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 676 WD 7. calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) GTTTACATTCTTGATGCAATG 0.388 Esophageal Squamous(85;849 1794 49757 52143) NA 60 118 0 0 0.01441 0 0 PSPC1 55269 broad.mit.edu 37 13 20283715 20283715 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr13:20283715C>A uc001uml.2 - 7 1369 c.1183G>T c.(1183-1185)GAT>TAT p.D395Y PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN paraspeckle protein 1 395 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1) 1 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) GGACCCATATCACCCATTCTC 0.383 NA 113 56 1.46925e-46 3.94767e-46 0.01441 1 0 TRPC4 7223 broad.mit.edu 37 13 38266181 38266181 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr13:38266181G>T uc001uws.2 - 4 1424 c.1189C>A c.(1189-1191)CCA>ACA p.P397T TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.P397T|TRPC4_uc010tey.1_Missense_Mutation_p.P397T|TRPC4_uc010abw.2_Missense_Mutation_p.P224T|TRPC4_uc010abx.2_Missense_Mutation_p.P397T|TRPC4_uc010aby.2_Missense_Mutation_p.P397T NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 397 Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GTTGGTGGTGGACCTTGCCTG 0.438 NA 91 48 6.00224e-42 1.56529e-41 0.01441 1 0 PCDH17 27253 broad.mit.edu 37 13 58207981 58207981 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr13:58207981C>T uc001vhq.1 + 1 2193 c.1301C>T c.(1300-1302)ACA>ATA p.T434I PCDH17_uc010aec.1_Missense_Mutation_p.T434I NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 434 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GACCGCGAGACACAAGACGAG 0.517 Melanoma(72;952 1291 1619 12849 33676) NA 19 73 0 0 0.014323 0 0 RNF219 79596 broad.mit.edu 37 13 79189773 79189773 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr13:79189773T>C uc001vkw.1 - 6 2182 c.2123A>G c.(2122-2124)AAA>AGA p.K708R uc001vku.1_Intron|RNF219_uc010afb.1_Missense_Mutation_p.K518R|RNF219_uc010afc.2_3'UTR NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 708 Ser-rich. zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GATTTTTCTTTTTGTTGATTG 0.403 NA 46 196 0 0 0.01441 0 0 PCCA 5095 broad.mit.edu 37 13 100953772 100953772 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr13:100953772G>C uc001voo.2 + 13 1162 c.1124G>C c.(1123-1125)CGT>CCT p.R375P PCCA_uc010aga.2_Missense_Mutation_p.R349P|PCCA_uc010tiz.1_Missense_Mutation_p.R375P|PCCA_uc001vop.2_RNA NM_000282 NP_000273 P05165 PCCA_HUMAN propionyl-Coenzyme A carboxylase, alpha 375 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity skin(2) 2 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) GAAATGATCCGTGTTGCTAAG 0.502 NA 47 212 0 0 0.01441 0 0 CPNE6 9362 broad.mit.edu 37 14 24546540 24546540 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr14:24546540C>A uc001wll.2 + 15 1576 c.1477C>A c.(1477-1479)CGA>AGA p.R493R CPNE6_uc010tnv.1_Silent_p.R548R|CPNE6_uc001wlm.2_Silent_p.R318R|CPNE6_uc001wln.2_Silent_p.R161R NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 493 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) GCGCTGCCCCCGAGGGGTGCC 0.647 NA 57 30 1.3268e-25 2.99093e-25 0.01441 1 0 CCDC88C 440193 broad.mit.edu 37 14 91770243 91770243 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr14:91770243T>C uc010aty.2 - 20 3536 c.3437A>G c.(3436-3438)AAG>AGG p.K1146R NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1146 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) CTCCGTCTCCTTGGCCGTGTG 0.652 NA 68 38 0 0 0.01441 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409967 105409967 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr14:105409967G>A uc010axc.1 - 7 11941 c.11821C>T c.(11821-11823)CCA>TCA p.P3941S AHNAK2_uc001ypx.2_Missense_Mutation_p.P3841S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3941 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGGCTCCTGGGGCCTCGACG 0.602 NA 224 138 0 0 0.01441 0 0 BCL8 606 broad.mit.edu 37 15 20876518 20876518 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:20876518C>G uc010tze.1 - 2 302 c.95G>C c.(94-96)GGA>GCA p.G32A BCL8_uc010tzd.1_RNA NR_027992 RecName: Full=Putative protein BCL8; 0 CAAAGGTACTCCATGAGATAA 0.338 NA 28 203 0 0 0.005443 0 0 GOLGA8E 390535 broad.mit.edu 37 15 23444033 23444033 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:23444033G>A uc001yvu.2 + 14 1677 c.688G>A c.(688-690)GAG>AAG p.E230K NM_001012423 NP_001012423 golgi autoantigen, golgin subfamily a, 8E skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614) TCTGGACAGTGAGGGGGAGGA 0.627 NA 15 196 0 0 0.010504 0 0 ACTC1 70 broad.mit.edu 37 15 35086900 35086900 + Missense_Mutation SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:35086900A>G uc001ziu.1 - 2 353 c.110T>C c.(109-111)GTG>GCG p.V37A uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 37 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CGGGCGGCCCACGATGGACGG 0.687 NA 36 47 0 0 0.003271 0 0 INO80 54617 broad.mit.edu 37 15 41361779 41361779 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:41361779G>C uc001zni.2 - 14 1984 c.1771C>G c.(1771-1773)CCT>GCT p.P591A INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 591 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TTAAATTTAGGAACAAATCTA 0.348 NA 25 31 0 0 0.004656 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43663583 43663583 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:43663583G>A uc001zro.2 + 1 271 c.31G>A c.(31-33)GGG>AGG p.G11R ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc001zrk.1_5'Flank|ZSCAN29_uc010bdf.1_5'Flank|ZSCAN29_uc001zrl.1_5'Flank|ZSCAN29_uc010bdg.1_5'Flank|ZSCAN29_uc001zrm.2_5'Flank|TUBGCP4_uc001zrn.2_Missense_Mutation_p.G11R NM_014444 NP_055259 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 11 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton ovary(3) 3 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) GGCTCTGAGCGGGTACCCTGG 0.652 NA OREG0023087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 45 0 0 0.007291 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152668 50152668 + Missense_Mutation SNP C C A rs142334062 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:50152668C>A uc001zxu.2 - 28 3444 c.3302G>T c.(3301-3303)CGC>CTC p.R1101L ATP8B4_uc010ber.2_Missense_Mutation_p.R974L|ATP8B4_uc010ufd.1_Missense_Mutation_p.R911L|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.R104L NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1101 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTGCCACCGGCGGATCTGGAG 0.498 NA 30 121 3.1745e-13 6.1862e-13 0.008361 1 0 ATP8B4 79895 broad.mit.edu 37 15 50152670 50152670 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:50152670G>A uc001zxu.2 - 28 3442 c.3300C>T c.(3298-3300)ATC>ATT p.I1100I ATP8B4_uc010ber.2_Silent_p.I973I|ATP8B4_uc010ufd.1_Silent_p.I910I|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Silent_p.I103I NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1100 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GCCACCGGCGGATCTGGAGAG 0.498 NA 30 119 0 0 0.00632 0 0 IGDCC4 57722 broad.mit.edu 37 15 65677380 65677380 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:65677380G>T uc002aou.1 - 19 3464 c.3254C>A c.(3253-3255)CCC>CAC p.P1085H IGDCC4_uc002aot.1_Missense_Mutation_p.P673H NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 1085 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 AGCCGGCCGGGGGCCTGCCTG 0.672 NA OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 57 2.5808e-16 5.36322e-16 0.006122 1 0 ALPK3 57538 broad.mit.edu 37 15 85401453 85401453 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:85401453G>C uc002ble.2 + 6 4257 c.4090G>C c.(4090-4092)GGG>CGG p.G1364R NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1364 G -> E (in a metastatic melanoma sample; somatic mutation). heart development nucleus ATP binding|protein serine/threonine kinase activity p.G1364E(1) stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACTGGCTCTAGGGGCCCGGAG 0.627 NA 11 18 0 0 0.013537 0 0 BLM 641 broad.mit.edu 37 15 91341491 91341491 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:91341491A>G uc002bpr.2 + 17 3379 c.3282A>G c.(3280-3282)TCA>TCG p.S1094S BLM_uc010uqh.1_Silent_p.S1094S|BLM_uc010uqi.1_Silent_p.S719S|BLM_uc010bnx.2_Silent_p.S1094S|BLM_uc002bpt.2_Silent_p.S69S NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 1094 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) ATAGTTCATCACAAGGAATGA 0.318 NA Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome 62 79 0 0 0.01441 0 0 BAIAP3 8938 broad.mit.edu 37 16 1395019 1395019 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:1395019C>T uc002clk.1 + 21 1964 c.1964C>T c.(1963-1965)ACC>ATC p.T655I BAIAP3_uc002clj.2_Missense_Mutation_p.T637I|BAIAP3_uc010uuz.1_Missense_Mutation_p.T620I|BAIAP3_uc010uva.1_Missense_Mutation_p.T592I|BAIAP3_uc010uvc.1_Missense_Mutation_p.T584I NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 655 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) CCCAAGATGACCCTGGAGGTG 0.657 NA 41 54 0 0 0.00874 0 0 MLST8 64223 broad.mit.edu 37 16 2256104 2256104 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:2256104C>A uc002coz.2 + 2 137 c.18C>A c.(16-18)GGC>GGA p.G6G MLST8_uc002coy.2_Silent_p.G6G|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Silent_p.G6G|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Silent_p.G6G|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Silent_p.G6G|MLST8_uc010uvy.1_Silent_p.G6G|MLST8_uc002cpg.2_Silent_p.G25G|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.G6G NM_022372 NP_071767 Q9BVC4 LST8_HUMAN G protein beta subunit-like 6 WD 1. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding 0 CCTCCCCAGGCACGGTGGGCA 0.632 NA 13 203 1.15088e-07 2.03411e-07 0.004007 1 0 TIGD7 91151 broad.mit.edu 37 16 3349590 3349590 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:3349590T>C uc002cus.2 - 1 1811 c.1025A>G c.(1024-1026)TAT>TGT p.Y342C ZNF263_uc002cur.2_3'UTR NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 342 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CTTCCATCTATACAGCCGTTT 0.264 NA 30 95 0 0 0.007291 0 0 DNAJA3 9093 broad.mit.edu 37 16 4494686 4494686 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:4494686T>A uc002cwk.2 + 7 978 c.953T>A c.(952-954)GTG>GAG p.V318E DNAJA3_uc002cwl.2_Missense_Mutation_p.V318E|DNAJA3_uc010uxk.1_Missense_Mutation_p.V165E NM_005147 NP_005138 Q96EY1 DNJA3_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 3 318 activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding ovary(2)|breast(2) 4 GGCCAGACCGTGAGGATGCCT 0.403 NA 13 55 0 0 0.00245 0 0 EEF2K 29904 broad.mit.edu 37 16 22262545 22262545 + Nonsense_Mutation SNP G G T rs148576611 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:22262545G>T uc002dki.2 + 6 1005 c.520G>T c.(520-522)GAG>TAG p.E174* EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 174 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) GCGCTACATCGAGCCCGTAGA 0.592 NSCLC(195;1411 2157 20319 27471 51856) NA 29 145 7.26314e-15 1.4692e-14 0.007291 1 0 PALB2 79728 broad.mit.edu 37 16 23632700 23632700 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:23632700C>A uc002dlx.1 - 10 3296 c.3096G>T c.(3094-3096)ATG>ATT p.M1032I NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 1032 Interaction with RAD51 and BRCA2.|WD 4. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) CAATGTTGTTCATAATAGTAG 0.234 NA F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 13 73 1.5739e-10 2.91747e-10 0.004007 1 0 ZNF646 9726 broad.mit.edu 37 16 31087950 31087950 + Missense_Mutation SNP G G T rs143373931 byFrequency TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:31087950G>T uc002eap.2 + 2 594 c.305G>T c.(304-306)CGC>CTC p.R102L ZNF668_uc002eao.2_5'Flank NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CCTGAGGGCCGCCGCAGGCAC 0.612 NA 24 65 6.21321e-17 1.29625e-16 0.00278 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32891042 32891042 + Splice_Site SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:32891042C>A uc002edh.1 - 3 189 c.13_splice c.e3-1 p.G5_splice SLC6A10P_uc002edi.1_Splice_Site RecName: Full=Transporter; 0 ACATCCCACCCTGGGGGACAG 0.602 NA 68 77 2.40982e-25 5.40938e-25 0.01441 1 0 CES7 221223 broad.mit.edu 37 16 55903558 55903558 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:55903558G>T uc002eip.2 - 4 665 c.516C>A c.(514-516)GTC>GTA p.V172V CES7_uc002eio.2_Silent_p.V172V|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.V66V NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 172 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) GGTACTGGACGACCACAACCA 0.547 NA 30 34 5.8336e-16 1.2029e-15 0.003271 1 0 NLRC5 84166 broad.mit.edu 37 16 57111271 57111271 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:57111271G>T uc002ekk.1 + 41 5124 c.4899G>T c.(4897-4899)CTG>CTT p.L1633L NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Silent_p.L175L|NLRC5_uc002ekr.1_Silent_p.L520L NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 1633 LRR 21. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) TGCCTGGGCTGCCAGAGCTCA 0.582 NA 29 51 1.06801e-11 2.0365e-11 0.009535 1 0 DPEP2 64174 broad.mit.edu 37 16 68024723 68024723 + Splice_Site SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:68024723C>A uc010cey.2 - 6 1073 c.909_splice c.e6+1 p.L303_splice DPEP2_uc002evd.3_Splice_Site_p.L303_splice|DPEP2_uc002eve.2_Splice_Site_p.L303_splice|DPEP2_uc002evf.2_Splice_Site NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN dipeptidase 2 precursor hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) CAGTTTCTCACCAGAAGCTGC 0.443 NA 171 188 9.33601e-71 2.65602e-70 0.01441 1 0 CHST6 4166 broad.mit.edu 37 16 75513122 75513122 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:75513122C>A uc002fef.2 - 3 785 c.605G>T c.(604-606)CGC>CTC p.R202L CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R202L NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 202 PAPS (By similarity).|Lumenal (Potential). R -> S (in MCD). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 CCGCGGGTCGCGCACCAGGTG 0.687 NA 46 58 8.01111e-26 1.81358e-25 0.010771 1 0 POLR2A 5430 broad.mit.edu 37 17 7406556 7406556 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:7406556G>C uc002ghf.3 + 17 3107 c.2873G>C c.(2872-2874)CGG>CCG p.R958P NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 958 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) GAATTTGAGCGGATGCGGGAG 0.602 NA 30 83 0 0 0.010818 0 0 NOS2 4843 broad.mit.edu 37 17 26114788 26114788 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:26114788C>G uc002gzu.2 - 5 647 c.383G>C c.(382-384)GGA>GCA p.G128A NOS2_uc010crh.1_Missense_Mutation_p.G128A|NOS2_uc010wab.1_Missense_Mutation_p.G128A NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 128 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GTCCCTGGGTCCTCTGGTCAA 0.498 NA 138 150 0 0 0.01441 0 0 KRT37 8688 broad.mit.edu 37 17 39578346 39578346 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:39578346A>T uc002hwp.1 - 5 1042 c.995T>A c.(994-996)GTG>GAG p.V332E uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 332 Coil 2.|Rod. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) TTGGCGCTCCACCTCCAGGGC 0.582 NA 32 126 0 0 0.003271 0 0 KRT37 8688 broad.mit.edu 37 17 39580632 39580632 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:39580632G>T uc002hwp.1 - 1 191 c.144C>A c.(142-144)AAC>AAA p.N48K uc002hwo.1_RNA NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 48 Head. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) CGTGTGCCACGTTGGCCAAGA 0.617 NA 31 83 1.39806e-14 2.81729e-14 0.008361 1 0 ABI3 51225 broad.mit.edu 37 17 47299962 47299962 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:47299962T>A uc002iop.1 + 8 1484 c.986T>A c.(985-987)TTC>TAC p.F329Y ABI3_uc002ioq.1_Missense_Mutation_p.F323Y NM_016428 NP_057512 Q9P2A4 ABI3_HUMAN NESH protein isoform 1 329 SH3. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding 0 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) GAGCTCTCCTTCTCTGAGGGC 0.577 NA HNSCC(55;0.14) 23 65 0 0 0.014323 0 0 DDX42 11325 broad.mit.edu 37 17 61885106 61885106 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:61885106G>T uc002jbu.2 + 10 1126 c.869G>T c.(868-870)GGT>GTT p.G290V DDX42_uc002jbv.2_Missense_Mutation_p.G290V|DDX42_uc002jbw.1_Missense_Mutation_p.G26V|DDX42_uc002jbx.2_Missense_Mutation_p.G26V NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 290 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 GCATTAAGTGGTAGAGACATG 0.398 NA 88 124 2.07245e-51 5.65408e-51 0.01441 1 0 SLC39A11 201266 broad.mit.edu 37 17 71027788 71027788 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:71027788C>A uc002jjb.2 - 4 328 c.213G>T c.(211-213)GGG>GGT p.G71G SLC39A11_uc002jja.2_Silent_p.G71G|SLC39A11_uc002jjc.1_Silent_p.G71G NM_001159770 NP_001153242 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 isoform 1 71 zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1) 1 CACCGAAGCCCCCAGAGGACG 0.532 NSCLC(95;736 1527 12296 39625 41839) NA 50 52 1.61863e-15 3.32475e-15 0.01441 1 0 KIF19 124602 broad.mit.edu 37 17 72348161 72348161 + Silent SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:72348161G>C uc002jkm.3 + 13 1881 c.1743G>C c.(1741-1743)TCG>TCC p.S581S KIF19_uc002jkl.2_Silent_p.S539S NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 581 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 AGATGCAGTCGCACGCGCTGC 0.711 NA 5 8 0 0 0.001168 0 0 KCTD2 23510 broad.mit.edu 37 17 73055632 73055632 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:73055632C>T uc002jmp.2 + 4 635 c.568C>T c.(568-570)CTG>TTG p.L190L KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA NM_015353 NP_056168 Q14681 KCTD2_HUMAN potassium channel tetramerisation domain 190 voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_lung(278;0.226) GTACAGAGTCCTGCAGTGTCA 0.562 NA 16 63 0 0 0.006122 0 0 MGAT5B 146664 broad.mit.edu 37 17 74902107 74902107 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:74902107T>C uc002jti.2 + 7 999 c.896T>C c.(895-897)GTC>GCC p.V299A MGAT5B_uc002jth.2_Missense_Mutation_p.V288A NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 288 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 CAGATCCTGGTCCACATCGGC 0.692 NA 42 88 0 0 0.01441 0 0 SLC38A10 124565 broad.mit.edu 37 17 79225400 79225400 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:79225400G>A uc002jzz.1 - 14 2333 c.1958C>T c.(1957-1959)CCC>CTC p.P653L SLC38A10_uc002jzy.1_Missense_Mutation_p.P571L|SLC38A10_uc002kab.2_Missense_Mutation_p.P653L NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 653 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CGCTGGGAGGGGAGGCTTCCC 0.672 NA 7 31 0 0 0.006214 0 0 C17orf101 79701 broad.mit.edu 37 17 80361813 80361813 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:80361813C>A uc002keu.1 - 7 800 c.699G>T c.(697-699)AAG>AAT p.K233N C17orf101_uc002ket.1_Missense_Mutation_p.K233N|C17orf101_uc010dip.1_RNA NM_024648 NP_078924 Q6PK18 CQ101_HUMAN hypothetical protein LOC79701 isoform 1 233 Fe2OG dioxygenase.|Lumenal (Potential). integral to membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1) 1 GCGCGCTCACCTTGTCCACGT 0.677 NA 9 14 1.58986e-06 2.74613e-06 0.008291 1 0 LRRC30 339291 broad.mit.edu 37 18 7231504 7231504 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr18:7231504T>A uc010wzk.1 + 1 368 c.368T>A c.(367-369)TTT>TAT p.F123Y NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 123 LRR 3. ovary(1)|liver(1) 2 AAGGTCCTGTTTGTCAACATG 0.597 NA 24 54 0 0 0.014323 0 0 RNMT 8731 broad.mit.edu 37 18 13737009 13737009 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr18:13737009G>T uc002ksk.1 + 4 621 c.554G>T c.(553-555)GGA>GTA p.G185V RNMT_uc002ksl.1_Missense_Mutation_p.G185V|RNMT_uc002ksm.1_Missense_Mutation_p.G185V|RNMT_uc010dlk.2_Missense_Mutation_p.G185V|RNMT_uc010xae.1_RNA NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 185 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 TCTCTTTTAGGAGAATTTTTG 0.348 GBM(29;474 594 19092 36647 41529) NA 21 42 1.96292e-10 3.61341e-10 0.010504 1 0 OSBPL1A 114876 broad.mit.edu 37 18 21747356 21747356 + Silent SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr18:21747356T>C uc002kve.2 - 25 2646 c.2472A>G c.(2470-2472)GTA>GTG p.V824V OSBPL1A_uc002kvd.2_Silent_p.V311V|OSBPL1A_uc010xbc.1_Silent_p.V442V NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 824 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) GGATAATGAATACACTTTCAG 0.463 NA 47 97 0 0 0.01441 0 0 SALL3 27164 broad.mit.edu 37 18 76757146 76757146 + Missense_Mutation SNP G G T rs140437850 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr18:76757146G>T uc002lmt.2 + 3 3727 c.3727G>T c.(3727-3729)GTG>TTG p.V1243L SALL3_uc010dra.2_Missense_Mutation_p.V778L NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCAGCTCCCCGTGAGTCTTGG 0.607 NA 42 136 2.37825e-27 5.50099e-27 0.010771 1 0 PTPRS 5802 broad.mit.edu 37 19 5225821 5225821 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:5225821G>C uc002mbv.2 - 17 2645 c.2411C>G c.(2410-2412)GCG>GGG p.A804G PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.A782G|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 804 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GATGGAGTACGCGGTCTCAGG 0.647 NA 24 30 0 0 0.00278 0 0 KEAP1 9817 broad.mit.edu 37 19 10602620 10602620 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:10602620G>A uc002moq.1 - 3 1114 c.958C>T c.(958-960)CGG>TGG p.R320W KEAP1_uc002mop.1_Missense_Mutation_p.R38W|KEAP1_uc002mor.1_Missense_Mutation_p.R320W NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TTGGGCGCCCGGCAGGGCATC 0.642 NA 27 18 0 0 0.005443 0 0 SLC5A5 6528 broad.mit.edu 37 19 18001744 18001744 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:18001744C>A uc002nhr.3 + 14 2048 c.1701C>A c.(1699-1701)CTC>CTA p.L567L NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 567 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 GGTGGGACCTCGCACGGCAGA 0.592 Melanoma(65;1008 1708 7910 46650) NA 123 61 2.34035e-62 6.55298e-62 0.01441 1 0 LOC284441 284441 broad.mit.edu 37 19 20369339 20369339 + Silent SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:20369339T>C uc002nov.2 + 1 883 c.132T>C c.(130-132)AAT>AAC p.N44N NR_003128 SubName: Full=cDNA FLJ51655, highly similar to Actin-like protein 2; 0 AGAAACCTAATATAGATACCA 0.373 NA 54 122 0 0 0.01441 0 0 ZNF675 171392 broad.mit.edu 37 19 23836246 23836246 + Missense_Mutation SNP T T C rs147297608 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:23836246T>C uc002nri.2 - 4 1671 c.1489A>G c.(1489-1491)ACA>GCA p.T497A NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 497 C2H2-type 13. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CTTTTATGTGTAGTAAGGGAT 0.363 NA 30 24 0 0 0.010818 0 0 ZNF607 84775 broad.mit.edu 37 19 38202555 38202555 + Translation_Start_Site SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:38202555G>A uc002ohc.1 - 2 561 c.-35C>T c.(-37--33)AACGC>AATGC ZNF607_uc002ohb.1_Translation_Start_Site NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) AGTCCTTGGCGTTTCTCTACC 0.438 NA 15 47 0 0 0.00245 0 0 PSG11 5680 broad.mit.edu 37 19 43519364 43519364 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:43519364G>T uc002ovm.1 - 4 975 c.868C>A c.(868-870)CAG>AAG p.Q290K PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.Q296K|PSG11_uc002ovo.1_Missense_Mutation_p.Q168K|PSG11_uc002ovp.1_Missense_Mutation_p.Q168K NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 290 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) GGAGTAATCTGAGGGATAAAG 0.463 NA 73 269 5.32961e-40 1.36315e-39 0.01441 1 0 PSG2 5670 broad.mit.edu 37 19 43579759 43579759 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:43579759G>A uc002ovr.2 - 3 549 c.456C>T c.(454-456)TCC>TCT p.S152S PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.S152S|PSG2_uc010eiq.1_Silent_p.S152S|PSG2_uc002ovs.3_Silent_p.S152S|PSG2_uc002ovt.3_Silent_p.S152S NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 152 Ig-like C2-type 1. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) AGTTGCTGCTGGAGATGGAGG 0.498 NA 78 313 0 0 0.01441 0 0 SEC1 653677 broad.mit.edu 37 19 49183484 49183484 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:49183484G>A uc010xzv.1 + 5 631 c.504G>A c.(502-504)CTG>CTA p.L168L SEC1_uc002pka.2_Silent_p.L128L|SEC1_uc010xzw.1_Silent_p.L85L|SEC1_uc010ema.2_Silent_p.L74L NR_004401 SubName: Full=cDNA FLJ58287, highly similar to Galactoside 2-alpha-L-fucosyltransferase 2 (EC 2.4.1.69); 0 AGGGCCGCCTGGGGAACCAGA 0.682 NA 8 11 0 0 0.004482 0 0 KLK3 354 broad.mit.edu 37 19 51361318 51361318 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:51361318G>T uc002pts.1 + 3 281 c.240G>T c.(238-240)CTG>CTT p.L80L KLK3_uc010ycj.1_Silent_p.L80L|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_RNA NM_001030047 NP_001025218 P07288 KLK3_HUMAN prostate specific antigen isoform 3 80 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) GGCACAGCCTGTTTCATCCTG 0.547 Colon(185;1767 2023 13025 30120 37630) NA 20 55 1.2644e-06 2.19849e-06 0.010504 1 0 LILRA4 23547 broad.mit.edu 37 19 54848199 54848199 + Missense_Mutation SNP C C G rs143168076 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:54848199C>G uc002qfj.2 - 6 1225 c.1168G>C c.(1168-1170)GCG>CCG p.A390P LILRA4_uc002qfi.2_Missense_Mutation_p.A324P NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 390 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TAGGTCCCCGCGTGGGCTGAG 0.622 NA 115 254 0 0 0.01441 0 0 PTPRH 5794 broad.mit.edu 37 19 55693405 55693406 + Missense_Mutation DNP CC CC AA rs145661468 byFrequency TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:55693405_55693406CC>AA uc002qjq.2 - 19 3249_3250 c.3176_3177GG>TT c.(3175-3177)CGG>CTT p.R1059L PTPRH_uc010esv.2_Missense_Mutation_p.R881L|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1059 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CCATCAACGGCCGACTCTCTCT 0.634 NA 73 100 0 0 0.004672 0 0 NLRP11 204801 broad.mit.edu 37 19 56300690 56300690 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:56300690C>A uc010ygf.1 - 10 3300 c.2589G>T c.(2587-2589)AGG>AGT p.R863S NLRP11_uc002qlz.2_Missense_Mutation_p.R710S|NLRP11_uc002qmb.2_Missense_Mutation_p.R764S|NLRP11_uc002qmc.2_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 863 LRR 5. 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) TCTCCAGGCTCCTCAGTTTTT 0.423 NA 96 116 1.43847e-43 3.82632e-43 0.01441 1 0 NLRP5 126206 broad.mit.edu 37 19 56572869 56572869 + Missense_Mutation SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:56572869A>G uc002qmj.2 + 15 3578 c.3578A>G c.(3577-3579)GAT>GGT p.D1193G NLRP5_uc002qmi.2_Missense_Mutation_p.D1174G NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 1193 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTTGATGAAGATGACCGGTAC 0.478 NA 36 147 0 0 0.004289 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010492 59010492 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:59010492G>T uc002qtc.2 - 8 1873 c.1763C>A c.(1762-1764)CCA>CAA p.P588Q SLC27A5_uc002qtb.2_RNA NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 588 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CTCCGCACCTGGCACGCACAC 0.343 NA 39 49 2.35958e-20 5.12367e-20 0.009718 1 0 MYT1L 23040 broad.mit.edu 37 2 1914022 1914022 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:1914022G>T uc002qxe.2 - 13 2634 c.1807C>A c.(1807-1809)CGC>AGC p.R603S MYT1L_uc002qxd.2_Missense_Mutation_p.R601S|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 603 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTGAGCACGCGGTCCGAGGCC 0.642 NA 32 55 2.85442e-18 6.05e-18 0.010818 1 0 NRXN1 9378 broad.mit.edu 37 2 51255149 51255149 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:51255149C>A uc010fbq.2 - 2 1740 c.263G>T c.(262-264)CGC>CTC p.R88L NRXN1_uc002rxe.3_Missense_Mutation_p.R88L|NRXN1_uc002rxd.1_Missense_Mutation_p.R88L NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GAGCTGCAGGCGGCCGCCGCG 0.677 NA 13 31 0.000219431 0.000368257 0.00245 1 0 SUCLG1 8802 broad.mit.edu 37 2 84668224 84668224 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:84668224C>A uc002son.2 - 5 729 c.536G>T c.(535-537)GGA>GTA p.G179V SUCLG1_uc010ysk.1_Missense_Mutation_p.G166V NM_003849 NP_003840 P53597 SUCA_HUMAN succinate-CoA ligase, GDP-forming alpha subunit 179 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity 0 Succinic acid(DB00139) TTTACATTCTCCAGGCTGAAA 0.348 Ovarian(48;203 1101 37206 40305 50790) NA 23 69 4.7796e-09 8.61949e-09 0.004656 1 0 RETSAT 54884 broad.mit.edu 37 2 85578057 85578057 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:85578057G>A uc002spd.2 - 3 634 c.443C>T c.(442-444)CCC>CTC p.P148L RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.P87L|RETSAT_uc010fgf.2_Intron NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 148 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) AGAGGACAGGGGAGCCCAGTC 0.532 NA 48 59 0 0 0.013114 0 0 RGPD4 285190 broad.mit.edu 37 2 108487939 108487939 + Missense_Mutation SNP T T G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:108487939T>G uc010ywk.1 + 20 3561 c.3479T>G c.(3478-3480)TTC>TGC p.F1160C RGPD4_uc002tdu.2_Missense_Mutation_p.F347C|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1160 RanBD1 1. intracellular transport binding skin(2) 2 GCTGAAGAATTCAAGCAGAAA 0.438 NA 14 217 0 0 0.001855 0 0 IL1F7 27178 broad.mit.edu 37 2 113674730 113674730 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:113674730C>A uc002tij.2 + 3 212 c.170C>A c.(169-171)CCG>CAG p.P57Q IL1F7_uc002tik.2_Missense_Mutation_p.P36Q|IL1F7_uc002til.2_Intron|IL1F7_uc002tim.2_Intron|IL1F7_uc002tin.2_Missense_Mutation_p.P31Q NM_014439 NP_055254 Q9NZH6 IL37_HUMAN interleukin 1 family, member 7 isoform 1 57 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding 0 AACTTAAACCCGAAGAAATTC 0.443 NA 40 85 9.9191e-30 2.36635e-29 0.00874 1 0 EN1 2019 broad.mit.edu 37 2 119600786 119600786 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:119600786C>G uc002tlm.2 - 2 1923 c.907G>C c.(907-909)GAC>CAC p.D303H NM_001426 NP_001417 Q05925 HME1_HUMAN engrailed homeobox 1 303 Homeobox. skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1) 2 GGCCGCTTGTCCTCCTTCTCG 0.677 NA 8 19 0 0 0.00308 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540303 133540303 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:133540303G>C uc002ttp.2 - 14 4455 c.4081C>G c.(4081-4083)CAG>GAG p.Q1361E NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1361 protein binding 0 CTCCCATGCTGACTGCTGAAG 0.617 NA 34 75 0 0 0.012213 0 0 NEB 4703 broad.mit.edu 37 2 152470916 152470916 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:152470916C>A uc010fnx.2 - 73 10937 c.10746G>T c.(10744-10746)GTG>GTT p.V3582V NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3582 Nebulin 98. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCTTGGCCAGCACCACCCCCA 0.527 NA 281 341 1.52656e-134 4.46225e-134 0.01441 1 0 SCN3A 6328 broad.mit.edu 37 2 165970341 165970341 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:165970341G>T uc002ucx.2 - 20 4146 c.3654C>A c.(3652-3654)CTC>CTA p.L1218L SCN3A_uc002ucy.2_Silent_p.L1169L|SCN3A_uc002ucz.2_Silent_p.L1169L|SCN3A_uc002uda.1_Silent_p.L1038L|SCN3A_uc002udb.1_Silent_p.L1038L NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1218 Helical; Name=S1 of repeat III; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CACCACTACTGAGAAGGATCA 0.393 NA 24 159 2.21704e-12 4.27342e-12 0.00278 1 0 SCN3A 6328 broad.mit.edu 37 2 165987787 165987787 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:165987787C>A uc002ucx.2 - 16 3024 c.2532G>T c.(2530-2532)GTG>GTT p.V844V SCN3A_uc002ucy.2_Silent_p.V795V|SCN3A_uc002ucz.2_Silent_p.V795V|SCN3A_uc002uda.1_Silent_p.V664V|SCN3A_uc002udb.1_Silent_p.V664V NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 844 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) ACAATCCCTCCACATTTGACA 0.368 NA 58 165 1.12612e-26 2.57122e-26 0.01441 1 0 CHN1 1123 broad.mit.edu 37 2 175677163 175677163 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:175677163C>T uc002uji.2 - 9 1290 c.760G>A c.(760-762)GAC>AAC p.D254N CHN1_uc010zeq.1_Missense_Mutation_p.D228N|CHN1_uc002ujj.2_Missense_Mutation_p.D29N|CHN1_uc002ujg.2_Missense_Mutation_p.D129N NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 254 Phorbol-ester/DAG-type. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) GGCTTACAGTCATTTGGGACC 0.398 NA T TAF15 extraskeletal myxoid chondrosarcoma 105 88 0 0 0.01441 0 0 COL5A2 1290 broad.mit.edu 37 2 189916924 189916924 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:189916924C>A uc002uqk.2 - 41 3018 c.2743G>T c.(2743-2745)GGC>TGC p.G915C COL5A2_uc010frx.2_Missense_Mutation_p.G491C NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 915 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAACTCTGCCCGCAGAACCA 0.363 NA 75 121 2.38877e-28 5.59835e-28 0.01441 1 0 BOLL 66037 broad.mit.edu 37 2 198646503 198646503 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:198646503G>A uc002uus.2 - 2 382 c.72C>T c.(70-72)GCC>GCT p.A24A BOLL_uc002uur.2_Silent_p.A30A|BOLL_uc002uut.2_Silent_p.A36A|BOLL_uc010zha.1_5'UTR|BOLL_uc002uuu.1_Silent_p.A30A NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN boule isoform 2 24 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity ovary(2) 2 CATATCTTGGGGCACTTGTTG 0.368 NA 83 203 0 0 0.01441 0 0 CPS1 1373 broad.mit.edu 37 2 211456679 211456679 + Missense_Mutation SNP G G A rs149930500 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:211456679G>A uc002vee.3 + 10 1204 c.1072G>A c.(1072-1074)GAT>AAT p.D358N CPS1_uc010fur.2_Missense_Mutation_p.D364N|CPS1_uc010fus.2_5'Flank NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 358 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GAATGTCAACGATCAAACAAA 0.353 NA 41 56 0 0 0.00874 0 0 ABCA12 26154 broad.mit.edu 37 2 215807686 215807686 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:215807686A>T uc002vew.2 - 50 7619 c.7399T>A c.(7399-7401)TTT>ATT p.F2467I ABCA12_uc002vev.2_Missense_Mutation_p.F2149I|ABCA12_uc010zjn.1_Missense_Mutation_p.F1394I NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2467 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ATACATTGAAACTTTCCATTC 0.393 Ovarian(66;664 1488 5121 34295) NA 28 51 0 0 0.008361 0 0 TNS1 7145 broad.mit.edu 37 2 218713528 218713528 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:218713528C>A uc002vgt.2 - 17 1735 c.1337G>T c.(1336-1338)GGC>GTC p.G446V TNS1_uc002vgr.2_Missense_Mutation_p.G446V|TNS1_uc002vgs.2_Missense_Mutation_p.G446V|TNS1_uc010zjv.1_Missense_Mutation_p.G446V|TNS1_uc010fvj.1_Missense_Mutation_p.G514V|TNS1_uc010fvk.1_Missense_Mutation_p.G571V|TNS1_uc010fvi.1_Missense_Mutation_p.G133V NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 446 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TAAGCCAAAGCCACTCAGCAG 0.667 NA 70 96 4.46356e-37 1.11484e-36 0.01441 1 0 TTLL4 9654 broad.mit.edu 37 2 219605285 219605285 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:219605285G>A uc002viy.2 + 5 2009 c.1639G>A c.(1639-1641)GAA>AAA p.E547K TTLL4_uc010zkl.1_Missense_Mutation_p.E382K|TTLL4_uc010fvx.2_Missense_Mutation_p.E547K NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 547 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CTCCCCCAGCGAATCGGTGGC 0.433 GBM(172;1818 2053 15407 20943 49753) NA 31 246 0 0 0.00623 0 0 OBSL1 23363 broad.mit.edu 37 2 220431754 220431754 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:220431754C>A uc010fwk.2 - 5 1989 c.1932G>T c.(1930-1932)CAG>CAT p.Q644H OBSL1_uc010fwl.1_Missense_Mutation_p.Q119H|OBSL1_uc002vmi.2_Missense_Mutation_p.Q644H|OBSL1_uc002vmj.2_Missense_Mutation_p.Q231H NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 644 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) ACCAGGTACCCTGGATGATGG 0.602 NA 26 37 7.33532e-06 1.25884e-05 0.003954 1 0 KIAA1486 57624 broad.mit.edu 37 2 226446863 226446863 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:226446863G>A uc002voe.2 + 4 905 c.730G>A c.(730-732)GTG>ATG p.V244M KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.V14M NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 244 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) AGAGGAGCCCGTGTACATCGA 0.592 NA 14 309 0 0 0.004007 0 0 COL4A4 1286 broad.mit.edu 37 2 227892700 227892700 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:227892700C>T uc010zlt.1 - 42 4653 c.3999G>A c.(3997-3999)CAG>CAA p.Q1333Q NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1333 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CATGTGGTCCCTGCGGTCCCG 0.488 NA 19 59 0 0 0.006122 0 0 RASSF2 9770 broad.mit.edu 37 20 4768901 4768901 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:4768901G>T uc002wld.2 - 8 707 c.653C>A c.(652-654)GCA>GAA p.A218E RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.A218E|RASSF2_uc010gbh.2_5'Flank NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 218 Ras-associating. cell cycle|signal transduction nucleus protein binding ovary(3)|lung(2)|large_intestine(1) 6 AAACTCCTCTGCTGAATTCTC 0.378 Melanoma(158;1891 3343 50738) NA 67 71 7.33394e-39 1.86682e-38 0.01441 1 0 C20orf186 149954 broad.mit.edu 37 20 31685467 31685467 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:31685467C>A uc010zue.1 + 11 1458 c.1443C>A c.(1441-1443)ATC>ATA p.I481I NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 481 cytoplasm|extracellular region lipid binding 0 TCATCAGGATCCAGGTGCTGA 0.597 NA 93 122 8.92586e-32 2.14867e-31 0.01441 1 0 PTPRT 11122 broad.mit.edu 37 20 40730911 40730911 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:40730911C>A uc002xkg.2 - 26 3751 c.3567G>T c.(3565-3567)GTG>GTT p.V1189V PTPRT_uc010ggj.2_Silent_p.V1208V|PTPRT_uc010ggi.2_Silent_p.V392V NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1189 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCTCGGGCCGCACACGGGGTG 0.562 NA 18 80 1.67942e-08 3.01841e-08 0.006122 1 0 PTPRT 11122 broad.mit.edu 37 20 40743842 40743842 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:40743842C>A uc002xkg.2 - 22 3280 c.3096G>T c.(3094-3096)CAG>CAT p.Q1032H PTPRT_uc010ggj.2_Missense_Mutation_p.Q1051H|PTPRT_uc010ggi.2_Missense_Mutation_p.Q235H NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1032 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGCTTACCTTCTGGACTGTGA 0.418 NA 29 94 8.4185e-14 1.66492e-13 0.012213 1 0 TOX2 84969 broad.mit.edu 37 20 42635366 42635366 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:42635366C>A uc002xlf.3 + 3 389 c.372C>A c.(370-372)CTC>CTA p.L124L TOX2_uc010ggo.2_Silent_p.L115L|TOX2_uc002xle.3_Silent_p.L73L|TOX2_uc010ggp.2_Silent_p.L73L|TOX2_uc002xlg.2_Silent_p.L73L NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CCATGGACCTCCCAGCCATCA 0.637 NA 34 24 6.90743e-12 1.32185e-11 0.003755 1 0 HNF4A 3172 broad.mit.edu 37 20 43043291 43043291 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:43043291C>A uc002xma.2 + 5 726 c.637C>A c.(637-639)CTG>ATG p.L213M HNF4A_uc002xlt.2_Missense_Mutation_p.L191M|HNF4A_uc002xlu.2_Missense_Mutation_p.L191M|HNF4A_uc002xlv.2_Missense_Mutation_p.L191M|HNF4A_uc002xly.2_Missense_Mutation_p.L213M|HNF4A_uc002xlz.2_Missense_Mutation_p.L213M|HNF4A_uc010ggq.2_Missense_Mutation_p.L206M NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 213 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGAGCTCCCCCTGGACGACCA 0.622 Colon(79;2 1269 8820 14841 52347) NA 7 25 5.68852e-11 1.07315e-10 0.004482 1 0 CDH22 64405 broad.mit.edu 37 20 44839121 44839121 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:44839121C>A uc002xrm.2 - 6 1512 c.1111G>T c.(1111-1113)GAC>TAC p.D371Y CDH22_uc010ghk.1_Missense_Mutation_p.D371Y|CDH22_uc002xrn.1_Missense_Mutation_p.D122Y NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 371 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GTGCCCAGGTCGGCGAAGCGG 0.711 NA 14 32 7.93312e-07 1.39288e-06 0.00245 1 0 CDH22 64405 broad.mit.edu 37 20 44869744 44869744 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:44869744C>A uc002xrm.2 - 2 809 c.408G>T c.(406-408)CGG>CGT p.R136R CDH22_uc010ghk.1_Silent_p.R136R NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 136 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GAGCCTGGGCCCGCAGCGTGT 0.622 NA 24 93 7.07758e-08 1.25929e-07 0.004656 1 0 ZNF831 128611 broad.mit.edu 37 20 57768321 57768321 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:57768321C>A uc002yan.2 + 1 2247 c.2247C>A c.(2245-2247)GTC>GTA p.V749V NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 749 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GCCCCCTGGTCTCTCCAAATG 0.642 NA 12 9 0.000978159 0.00162112 0.010729 1 0 ZNF831 128611 broad.mit.edu 37 20 57768439 57768439 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:57768439G>T uc002yan.2 + 1 2365 c.2365G>T c.(2365-2367)GCC>TCC p.A789S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 789 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGAAGGAGGTGCCCGAGGTGT 0.662 NA 29 20 3.65163e-15 7.47179e-15 0.00632 1 0 C20orf151 140893 broad.mit.edu 37 20 60985978 60985978 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:60985978C>A uc002ycw.1 - 14 2108 c.1951G>T c.(1951-1953)GAC>TAC p.D651Y NM_080833 NP_543023 Q8NC74 CT151_HUMAN hypothetical protein LOC140893 651 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;6.43e-06) GGACTGTGGTCCTCGGCGTCC 0.677 NA 76 85 1.24833e-42 3.30405e-42 0.01441 1 0 BIRC7 79444 broad.mit.edu 37 20 61870819 61870819 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:61870819G>T uc002yej.2 + 6 932 c.759G>T c.(757-759)AAG>AAT p.K253N BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.K235N NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN livin inhibitor of apoptosis isoform alpha 253 RING-type. activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(38;2.72e-09) GGACGTGCAAGGTGTGCCTGG 0.692 NA 19 126 3.32936e-07 5.86496e-07 0.006122 1 0 MYT1 4661 broad.mit.edu 37 20 62839775 62839775 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:62839775G>T uc002yii.2 + 7 1590 c.1226G>T c.(1225-1227)GGC>GTC p.G409V MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Missense_Mutation_p.G41V NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 409 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGCCAGCTGGGCCTGGGAGAG 0.657 GBM(59;481 1041 20555 21139 33705) NA 28 26 2.12542e-12 4.11171e-12 0.00632 1 0 PCMTD2 55251 broad.mit.edu 37 20 62904813 62904813 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:62904813G>C uc002yil.3 + 6 1146 c.946G>C c.(946-948)GAG>CAG p.E316Q PCMTD2_uc002yim.3_Missense_Mutation_p.E289Q NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) 316 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGACTTGGAAGAGGAACGGAG 0.537 NA 90 94 0 0 0.01441 0 0 TIAM1 7074 broad.mit.edu 37 21 32526706 32526706 + Missense_Mutation SNP A A C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr21:32526706A>C uc002yow.1 - 18 3502 c.3030T>G c.(3028-3030)CAT>CAG p.H1010Q TIAM1_uc011adk.1_Missense_Mutation_p.H1010Q|TIAM1_uc011adl.1_Missense_Mutation_p.H950Q NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1010 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GGTTCATCTCATGCAAACTGC 0.572 NA 76 62 0 0 0.01441 0 0 PDE9A 5152 broad.mit.edu 37 21 44192569 44192569 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr21:44192569C>T uc002zbm.2 + 19 1770 c.1707C>T c.(1705-1707)AGC>AGT p.S569S PDE9A_uc002zbn.2_Silent_p.S442S|PDE9A_uc002zbo.2_Silent_p.S516S|PDE9A_uc002zbp.2_Silent_p.S362S|PDE9A_uc002zbq.2_Silent_p.S467S|PDE9A_uc002zbs.2_Silent_p.S362S|PDE9A_uc002zbr.2_Silent_p.S362S|PDE9A_uc002zbt.2_Silent_p.S441S|PDE9A_uc002zbu.2_Silent_p.S435S|PDE9A_uc002zbv.2_Silent_p.S409S|PDE9A_uc002zbw.2_Silent_p.S352S|PDE9A_uc002zbx.2_Silent_p.S509S|PDE9A_uc002zby.2_Silent_p.S352S|PDE9A_uc002zbz.2_Silent_p.S461S|PDE9A_uc002zca.2_Silent_p.S528S|PDE9A_uc002zcb.2_Silent_p.S543S|PDE9A_uc002zcc.2_Silent_p.S468S|PDE9A_uc002zcd.2_Silent_p.S483S|PDE9A_uc002zce.2_Silent_p.S502S|PDE9A_uc002zcf.2_Silent_p.S362S|PDE9A_uc002zcg.2_Silent_p.S362S|PDE9A_uc002zch.2_Silent_p.S352S NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 569 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 AGACTGACAGCTTGACGTCTG 0.532 NA 10 5 0 0 0.013537 0 0 PWP2 5822 broad.mit.edu 37 21 45544482 45544482 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr21:45544482C>T uc002zeb.2 + 15 1929 c.1839C>T c.(1837-1839)TAC>TAT p.Y613Y NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 613 WD 13. cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CCCTGTGCTACTCTGCAGACG 0.562 NA 21 52 0 0 0.00333 0 0 SEZ6L 23544 broad.mit.edu 37 22 26736548 26736548 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr22:26736548C>A uc003acb.2 + 10 2318 c.2162C>A c.(2161-2163)CCT>CAT p.P721H SEZ6L_uc003acc.2_Missense_Mutation_p.P721H|SEZ6L_uc011akc.1_Missense_Mutation_p.P721H|SEZ6L_uc003acd.2_Missense_Mutation_p.P721H|SEZ6L_uc011akd.1_Missense_Mutation_p.P721H|SEZ6L_uc003ace.2_Missense_Mutation_p.P721H|SEZ6L_uc003acf.1_Missense_Mutation_p.P494H|SEZ6L_uc010gvc.1_Missense_Mutation_p.P494H NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 721 CUB 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CATTCGGACCCTGCTGGCCTC 0.488 NA 71 43 1.93348e-29 4.59201e-29 0.01441 1 0 SYN3 8224 broad.mit.edu 37 22 32914053 32914053 + Silent SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr22:32914053T>A uc003amx.2 - 12 1746 c.1587A>T c.(1585-1587)CCA>CCT p.P529P SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Silent_p.P528P|SYN3_uc011amc.1_Silent_p.P163P NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 529 J; Pro-rich linker. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 GGGGTGGTGCTGGCTTCTTGG 0.592 NA 70 55 0 0 0.01441 0 0 PNPLA3 80339 broad.mit.edu 37 22 44333104 44333104 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr22:44333104C>T uc003bei.1 + 6 1104 c.931C>T c.(931-933)CCC>TCC p.P311S PNPLA3_uc010gzm.1_RNA NM_025225 NP_079501 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 311 Lumenal (Potential). triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity 0 Ovarian(80;0.024)|all_neural(38;0.0416) CAGCATCCTGCCCTGGGATGA 0.607 NA 10 38 0 0 0.006214 0 0 PHF21B 112885 broad.mit.edu 37 22 45312349 45312349 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr22:45312349C>T uc003bfn.2 - 4 526 c.375G>A c.(373-375)GCG>GCA p.A125A PHF21B_uc003bfm.2_5'UTR|PHF21B_uc011aqk.1_Silent_p.A113A|PHF21B_uc011aql.1_Silent_p.A125A|PHF21B_uc011aqm.1_Silent_p.A113A NM_138415 NP_612424 Q96EK2 PF21B_HUMAN PHD finger protein 21B isoform 1 125 zinc ion binding ovary(2)|skin(1) 3 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GGCTGCCGGGCGCTGGCACAT 0.701 NA 23 64 0 0 0.00333 0 0 SUMF1 285362 broad.mit.edu 37 3 4459759 4459759 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:4459759C>A uc003bpz.1 - 5 685 c.660G>T c.(658-660)TGG>TGT p.W220C SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.W195C|SUMF1_uc010hby.1_Missense_Mutation_p.W220C|SUMF1_uc011ast.1_Intron NM_182760 NP_877437 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 isoform 1 220 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity upper_aerodigestive_tract(1) 1 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) GCTTCCCTGCCCAAGTGCAGT 0.502 NA 108 69 1.09905e-38 2.78425e-38 0.01441 1 0 NUP210 23225 broad.mit.edu 37 3 13415250 13415250 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:13415250C>A uc003bxv.1 - 12 1638 c.1555G>T c.(1555-1557)GTG>TTG p.V519L NUP210_uc003bxx.2_Missense_Mutation_p.V191L NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 519 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GGGTTCTGCACATCATGTGCC 0.587 NA 43 25 2.43139e-17 5.09252e-17 0.01441 1 0 ULK4 54986 broad.mit.edu 37 3 41996204 41996204 + Silent SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:41996204A>T uc003ckv.3 - 2 249 c.48T>A c.(46-48)ACT>ACA p.T16T ULK4_uc003ckw.2_Silent_p.T16T|ULK4_uc003ckx.1_Silent_p.T16T NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 16 Protein kinase. ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) TATAGACAACAGTCTTGCTTC 0.418 NA 75 50 0 0 0.01441 0 0 RHOA 387 broad.mit.edu 37 3 49412905 49412905 + Nonsense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:49412905C>A uc003cwu.2 - 2 394 c.118G>T c.(118-120)GAG>TAG p.E40* RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 40 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ACATAGTTCTCAAACACTGTG 0.438 NA 118 91 3.41453e-61 9.51063e-61 0.01441 1 0 IL17RD 54756 broad.mit.edu 37 3 57130439 57130439 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:57130439G>A uc003dil.2 - 13 2291 c.2202C>T c.(2200-2202)CAC>CAT p.H734H IL17RD_uc003dik.2_Silent_p.H710H|IL17RD_uc010hna.2_Silent_p.H590H NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D precursor 734 Cytoplasmic (Potential). Golgi membrane|integral to membrane|plasma membrane receptor activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) GGGCGACCGCGTGGAGTTCAT 0.547 NA 116 65 0 0 0.01441 0 0 ARL6 84100 broad.mit.edu 37 3 97506897 97506897 + Missense_Mutation SNP T T G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:97506897T>G uc003drv.2 + 7 726 c.413T>G c.(412-414)GTG>GGG p.V138G ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.V138G|ARL6_uc010hoy.2_Missense_Mutation_p.V138G NM_177976 NP_816931 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 138 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding 0 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) AGAGATGCAGTGACATCTGTA 0.323 NA Bardet-Biedl_syndrome 29 42 0 0 0.00632 0 0 GATA2 2624 broad.mit.edu 37 3 128200788 128200788 + Splice_Site SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:128200788C>A uc003ekm.3 - 6 1453 c.1018_splice c.e6-1 p.S340_splice GATA2_uc003ekn.3_Intron|GATA2_uc003eko.2_Splice_Site_p.S340_splice NM_001145661 NP_001139133 P23769 GATA2_HUMAN GATA binding protein 2 isoform 1 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1) 15 GBM - Glioblastoma multiforme(114;0.173) TGGCGGCCGACTGGGAGGGCA 0.443 NA Mis AML(CML blast transformation) 39 18 3.61848e-18 7.63901e-18 0.007835 1 0 IGSF10 285313 broad.mit.edu 37 3 151164418 151164418 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:151164418G>A uc011bod.1 - 4 3351 c.3351C>T c.(3349-3351)CCC>CCT p.P1117P NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1117 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTCTACACTGGGTTTGTTCT 0.433 NA 127 84 0 0 0.01441 0 0 FAM193A 8603 broad.mit.edu 37 4 2661397 2661397 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:2661397G>T uc010icl.2 + 7 980 c.629G>T c.(628-630)AGA>ATA p.R210I FAM193A_uc010ick.2_Missense_Mutation_p.R410I|FAM193A_uc003gfd.2_Missense_Mutation_p.R210I|FAM193A_uc011bvm.1_Missense_Mutation_p.R234I|FAM193A_uc011bvn.1_Missense_Mutation_p.R210I|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.R64I NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 210 ovary(3) 3 TACAGGAGAAGGTAAGGCTGG 0.552 NA 22 142 1.55795e-14 3.11589e-14 0.012319 1 0 CLNK 116449 broad.mit.edu 37 4 10527500 10527500 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:10527500G>T uc003gmo.3 - 14 833 c.696C>A c.(694-696)AAC>AAA p.N232K NM_052964 NP_443196 Q7Z7G1 CLNK_HUMAN mast cell immunoreceptor signal transducer 232 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity ovary(1) 1 GAGTATTTTGGTTTTCTAACA 0.418 GBM(87;402 1286 6949 13902 35851) NA 12 0 6.81908e-15 1.38464e-14 0.00245 1 0 NKX3-2 579 broad.mit.edu 37 4 13543927 13543927 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:13543927A>T uc003gmx.2 - 2 768 c.692T>A c.(691-693)CTG>CAG p.L231Q NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 231 Homeobox. negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGGCCCGGACAGGTAGCGCTG 0.617 NA 7 14 0 0 0.001984 0 0 ARAP2 116984 broad.mit.edu 37 4 36148964 36148964 + Nonsense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:36148964G>A uc003gsq.1 - 19 3555 c.3217C>T c.(3217-3219)CAA>TAA p.Q1073* NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1073 PH 4. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TCCCCATTTTGAACCATTGTG 0.353 NA 211 120 0 0 0.01441 0 0 N4BP2 55728 broad.mit.edu 37 4 40122701 40122701 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:40122701A>G uc003guy.3 + 9 3308 c.2970A>G c.(2968-2970)GTA>GTG p.V990V N4BP2_uc010ifq.2_Silent_p.V910V|N4BP2_uc010ifr.2_Silent_p.V910V NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 990 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 CTGGAGTAGTAGAACCACAAA 0.448 NA 26 111 0 0 0.00632 0 0 LRRC66 339977 broad.mit.edu 37 4 52861367 52861367 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:52861367C>A uc003gzi.2 - 4 1834 c.1821G>T c.(1819-1821)GGG>GGT p.G607G NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 607 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GTTCAGTGCCCCCTCTTTCCT 0.463 NA 33 174 9.65021e-13 1.87369e-12 0.010818 1 0 CLOCK 9575 broad.mit.edu 37 4 56336970 56336970 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:56336970G>C uc003haz.1 - 9 1278 c.352C>G c.(352-354)CTT>GTT p.L118V CLOCK_uc003hba.1_Missense_Mutation_p.L118V NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 118 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) AAACCATCAAGAGCCTGAAAT 0.274 NA 29 76 0 0 0.009535 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182639 57182639 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:57182639C>T uc003hbk.2 + 8 3362 c.2971C>T c.(2971-2973)CGC>TGC p.R991C KIAA1211_uc010iha.2_Missense_Mutation_p.R984C|KIAA1211_uc011bzz.1_Missense_Mutation_p.R901C|KIAA1211_uc003hbm.1_Missense_Mutation_p.R877C NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 991 Pro-rich. ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GCTGCTGTCTCGCCGAGCGGG 0.662 NA 7 20 0 0 0.001984 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962246 69962246 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:69962246T>C uc003heg.3 + 1 54 c.8T>C c.(7-9)GTG>GCG p.V3A UGT2B7_uc010ihq.2_Missense_Mutation_p.V3A NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 3 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 AGGATGTCTGTGAAATGGACT 0.408 NA 39 82 0 0 0.006999 0 0 SULT1B1 27284 broad.mit.edu 37 4 70596345 70596345 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:70596345C>A uc003hen.2 - 7 950 c.652G>T c.(652-654)GAT>TAT p.D218Y NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 218 PAPS (By similarity). 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 AAGATCTCATCATTCAGGTTC 0.363 NA 12 46 6.40141e-05 0.000108113 0.010729 1 0 AFM 173 broad.mit.edu 37 4 74357672 74357672 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:74357672G>A uc003hhb.2 + 8 958 c.927G>A c.(925-927)GAG>GAA p.E309E NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 309 Albumin 2. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAATACCAGAGCGCGGCCAGT 0.353 NA 33 68 0 0 0.010818 0 0 PRDM8 56978 broad.mit.edu 37 4 81123121 81123121 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:81123121C>T uc010ijo.2 + 8 1344 c.505C>T c.(505-507)CCC>TCC p.P169S PRDM8_uc003hmb.3_Missense_Mutation_p.P169S|PRDM8_uc003hmc.3_Missense_Mutation_p.P169S NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 169 C2H2-type 1; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GTTTGAGTTCCCCTATGTGGC 0.388 NA OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 136 0 0 0.01441 0 0 DSPP 1834 broad.mit.edu 37 4 88535365 88535365 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:88535365C>G uc003hqu.2 + 5 1671 c.1551C>G c.(1549-1551)AGC>AGG p.S517R NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 517 Asp/Ser-rich. biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) ACAGTGATAGCACATCAGACA 0.378 NA 16 41 0 0 0.004007 0 0 MEPE 56955 broad.mit.edu 37 4 88767088 88767088 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:88767088C>A uc003hqy.2 + 4 1107 c.1068C>A c.(1066-1068)AAC>AAA p.N356K MEPE_uc010ikn.2_Missense_Mutation_p.N243K NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 356 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding p.N356K(1) ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) GAGAAGGAAACAGAGTGGATG 0.478 NA 21 45 8.34094e-07 1.45966e-06 0.008871 1 0 FAM190A 401145 broad.mit.edu 37 4 91549341 91549341 + Silent SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:91549341A>T uc003hsv.3 + 6 2230 c.1890A>T c.(1888-1890)GCA>GCT p.A630A FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.A630A NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 630 large_intestine(1)|ovary(1) 2 ACTGCACGGCAGTCAAGACGT 0.418 NA 33 51 0 0 0.013726 0 0 NDST4 64579 broad.mit.edu 37 4 115769409 115769409 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:115769409C>A uc003ibu.2 - 9 2581 c.1902G>T c.(1900-1902)CAG>CAT p.Q634H NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 634 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CATTAAAGAACTGAACTTCCT 0.328 NA 49 89 5.57489e-27 1.28391e-26 0.01441 1 0 KIAA1109 84162 broad.mit.edu 37 4 123094284 123094284 + Missense_Mutation SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:123094284A>G uc003ieh.2 + 2 236 c.191A>G c.(190-192)TAC>TGC p.Y64C NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 64 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AACAGATTATACAAGCATGGC 0.289 NA 68 117 0 0 0.01441 0 0 FNIP2 57600 broad.mit.edu 37 4 159790038 159790038 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:159790038G>C uc003iqe.3 + 13 2433 c.2250G>C c.(2248-2250)GAG>GAC p.E750D NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 750 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) CCTCCTTGGAGGCCAGTGAGG 0.517 NA 38 81 0 0 0.003755 0 0 KLKB1 3818 broad.mit.edu 37 4 187173004 187173004 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:187173004G>A uc003iyy.2 + 10 1204 c.1133G>A c.(1132-1134)GGG>GAG p.G378E KLKB1_uc011clc.1_Missense_Mutation_p.G176E|KLKB1_uc011cld.1_Missense_Mutation_p.G340E NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 378 blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TGTAACACTGGGGACAACTCT 0.418 NA 42 88 0 0 0.010771 0 0 TRIML1 339976 broad.mit.edu 37 4 189060808 189060808 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:189060808G>T uc003izm.1 + 1 211 c.96G>T c.(94-96)GGG>GGT p.G32G NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 32 RING-type. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCGAGTGTGGGCACAGCTTTT 0.517 Melanoma(31;213 1036 16579 23968 32372) NA 68 192 7.1157e-29 1.68247e-28 0.01441 1 0 CTNND2 1501 broad.mit.edu 37 5 11384809 11384809 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:11384809G>A uc003jfa.1 - 7 1290 c.1145C>T c.(1144-1146)ACG>ATG p.T382M CTNND2_uc010itt.2_Missense_Mutation_p.T291M|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_Translation_Start_Site NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 382 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GAGGGTGGCCGTGGCATACAG 0.701 NA 10 19 0 0 0.010729 0 0 CDH9 1007 broad.mit.edu 37 5 26881508 26881508 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:26881508T>A uc003jgs.1 - 12 2276 c.2107A>T c.(2107-2109)ACT>TCT p.T703S CDH9_uc011cnv.1_Missense_Mutation_p.T296S NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 703 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AGAGGCACAGTCCTCCTTATC 0.418 Melanoma(8;187 585 15745 40864 52829) NA 101 98 0 0 0.01441 0 0 EGFLAM 133584 broad.mit.edu 37 5 38337723 38337723 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:38337723G>T uc003jlc.1 + 2 523 c.199G>T c.(199-201)GGG>TGG p.G67W EGFLAM_uc003jlb.1_Missense_Mutation_p.G67W NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 67 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) TCCCATCCTTGGGTACACTGT 0.512 Colon(62;485 1295 3347 17454) NA 9 8 0.000442599 0.000735821 0.006214 1 0 EDIL3 10085 broad.mit.edu 37 5 83402473 83402473 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:83402473C>A uc003kio.1 - 6 1064 c.645G>T c.(643-645)TGG>TGT p.W215C EDIL3_uc003kip.1_Missense_Mutation_p.W205C NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 215 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TTACCTGAATCCACGGCCATC 0.398 NA 75 47 1.43161e-34 3.526e-34 0.01441 1 0 DMXL1 1657 broad.mit.edu 37 5 118469357 118469357 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:118469357G>T uc003ksd.2 + 12 1919 c.1738G>T c.(1738-1740)GGT>TGT p.G580C DMXL1_uc010jcl.1_Missense_Mutation_p.G580C|DMXL1_uc003ksc.1_Missense_Mutation_p.G580C NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 580 WD 5. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TATTTCTTCTGGTCACAATAA 0.373 NA 22 61 4.35082e-09 7.87291e-09 0.010504 1 0 SLC22A5 6584 broad.mit.edu 37 5 131705782 131705782 + Missense_Mutation SNP G G C rs148657753 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:131705782G>C uc003kww.3 + 1 382 c.118G>C c.(118-120)GTG>CTG p.V40L SLC22A5_uc003kwx.3_Missense_Mutation_p.V40L|uc003kwu.1_5'Flank NM_003060 NP_003051 O76082 S22A5_HUMAN solute carrier family 22 member 5 40 Helical; Name=1; (Potential). positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity 0 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CCTGTCCTCCGTGTTCCTGAT 0.687 NA OREG0003451 type=REGULATORY REGION|Gene=BC043424|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 25 3 0 0 0.003954 0 0 EGR1 1958 broad.mit.edu 37 5 137802542 137802542 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:137802542G>T uc003ldb.1 + 2 674 c.404G>T c.(403-405)GGC>GTC p.G135V EGR1_uc011cyu.1_Missense_Mutation_p.G135V NM_001964 NP_001955 P18146 EGR1_HUMAN early growth response 1 135 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACCTATACTGGCCGCTTTTCC 0.582 NA 86 50 1.46381e-53 4.01415e-53 0.01441 1 0 PCDHA8 56140 broad.mit.edu 37 5 140222535 140222535 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:140222535G>T uc003lhs.2 + 1 1629 c.1629G>T c.(1627-1629)CCG>CCT p.P543P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.P543P NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 543 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCGTGCCGCCTCTGGGCA 0.687 NA 125 47 1.22322e-63 3.44312e-63 0.01441 1 0 PCDHB14 56122 broad.mit.edu 37 5 140603356 140603356 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:140603356C>A uc003ljb.2 + 1 279 c.279C>A c.(277-279)GAC>GAA p.D93E PCDHB14_uc011dal.1_Intron NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 93 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGACCGAGACGAGCTGTGTG 0.448 Ovarian(141;50 1831 27899 33809 37648) NA 147 119 9.53643e-70 2.69861e-69 0.01441 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140731926 140731926 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:140731926T>A uc003ljo.1 + 1 2099 c.2099T>A c.(2098-2100)CTC>CAC p.L700H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.L700H|PCDHGA4_uc003ljp.1_5'Flank NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 700 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCTCTTTCTCCTCGCGGTG 0.607 NA 159 93 0 0 0.01441 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140869611 140869611 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:140869611T>A uc003lla.1 + 1 804 c.804T>A c.(802-804)GAT>GAA p.D268E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.D268E NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 268 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCACTGATCCAGACGAGG 0.527 NA 166 83 0 0 0.01441 0 0 DCTN4 51164 broad.mit.edu 37 5 150138543 150138543 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:150138543G>A uc003lsv.2 - 1 115 c.13C>T c.(13-15)CTG>TTG p.L5L DCTN4_uc003lsu.2_5'Flank|DCTN4_uc010jhi.2_Silent_p.L5L|DCTN4_uc010jhj.2_RNA|DCTN4_uc011dck.1_5'Flank NM_016221 NP_057305 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) isoform b 5 centrosome|nucleus protein N-terminus binding central_nervous_system(1) 1 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCGACTGCAGCAAGGACGCC 0.612 NA 69 50 0 0 0.01441 0 0 TIMD4 91937 broad.mit.edu 37 5 156390260 156390260 + Translation_Start_Site SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:156390260C>A uc003lwh.2 - 1 7 c.-50G>T c.(-52--48)GAGGT>GATGT TIMD4_uc010jii.2_Translation_Start_Site NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAAGCCCAACCTCTTATATCC 0.463 NA 55 29 1.67886e-27 3.90023e-27 0.01441 1 0 FAM71B 153745 broad.mit.edu 37 5 156589539 156589539 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:156589539A>G uc003lwn.2 - 2 1837 c.1737T>C c.(1735-1737)GGT>GGC p.G579G NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 579 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCTCCTGGCCACCCTGGGCTT 0.478 NA 225 154 0 0 0.01441 0 0 EHMT2 10919 broad.mit.edu 37 6 31852716 31852716 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:31852716C>T uc003nxz.1 - 19 2431 c.2421G>A c.(2419-2421)CGG>CGA p.R807R EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_Silent_p.R5R|EHMT2_uc003nxy.1_Silent_p.R598R|EHMT2_uc011don.1_Silent_p.R830R|EHMT2_uc003nya.1_Silent_p.R773R NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 807 ANK 5. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 CGTCGGCGCCCCGCGTCAGTA 0.637 NA 19 49 0 0 0.007413 0 0 EGFL8 80864 broad.mit.edu 37 6 32135340 32135340 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:32135340C>A uc003oab.1 + 8 800 c.742C>A c.(742-744)CAG>AAG p.Q248K PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.Q248K NM_030652 NP_085155 Q99944 EGFL8_HUMAN NG3 protein precursor 248 extracellular region|integral to membrane calcium ion binding 0 TGAAGAGCTGCAGCCAGAACA 0.637 NA 57 74 7.36392e-32 1.78073e-31 0.01441 1 0 SPDEF 25803 broad.mit.edu 37 6 34506078 34506078 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:34506078G>A uc003ojq.1 - 6 1396 c.981C>T c.(979-981)CTC>CTT p.L327L SPDEF_uc011dsq.1_Silent_p.L311L NM_012391 NP_036523 O95238 SPDEF_HUMAN SAM pointed domain containing ets transcription 327 ETS. negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(3)|ovary(1)|central_nervous_system(1) 5 ACTGGTAGACGAGGCGCTGGG 0.632 NA 37 141 0 0 0.009718 0 0 MDFI 4188 broad.mit.edu 37 6 41621193 41621193 + Silent SNP C C A rs141575722 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:41621193C>A uc003oqp.3 + 6 950 c.621C>A c.(619-621)GGC>GGA p.G207G MDFI_uc003oqq.3_Silent_p.G207G|MDFI_uc010jxn.2_Silent_p.G207G NM_005586 NP_005577 Q99750 MDFI_HUMAN MyoD family inhibitor 207 Cys-rich. cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus 0 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) GTGGCTCTGGCGAGTGTGCCG 0.657 NA 43 132 3.54561e-26 8.06095e-26 0.009718 1 0 GPR115 221393 broad.mit.edu 37 6 47681561 47681561 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:47681561C>A uc003oza.1 + 6 838 c.580C>A c.(580-582)CTC>ATC p.L194I GPR115_uc003oyz.1_Missense_Mutation_p.L251I|GPR115_uc003ozb.1_Missense_Mutation_p.L192I NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 194 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 CAACCACATCCTCGACACAGC 0.413 GBM(22;431 510 9010 26644 32828) NA 59 63 7.82978e-24 1.7356e-23 0.01441 1 0 CRISP2 7180 broad.mit.edu 37 6 49666177 49666177 + Silent SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:49666177A>T uc003ozq.2 - 7 571 c.315T>A c.(313-315)ACT>ACA p.T105T CRISP2_uc003ozl.2_Silent_p.T105T|CRISP2_uc003ozn.2_Silent_p.T105T|CRISP2_uc003ozr.2_Silent_p.T105T|CRISP2_uc003ozo.2_Silent_p.T105T|CRISP2_uc003ozm.2_Silent_p.T105T|CRISP2_uc003ozp.2_Silent_p.T105T NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 105 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AAGACCAGGAAGTAGGGTCAC 0.413 NA 23 104 0 0 0.00333 0 0 PKHD1 5314 broad.mit.edu 37 6 51483892 51483892 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:51483892T>C uc003pah.1 - 67 12488 c.12212A>G c.(12211-12213)CAG>CGG p.Q4071R NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 4071 Cytoplasmic (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CAGTTGCTCCTGAATAGTTTC 0.517 NA 3 132 0 0 0.009096 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62757835 62757835 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:62757835G>T uc003peg.2 - 3 531 c.284C>A c.(283-285)ACA>AAA p.T95K NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 95 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TTTAGCACCTGTTTCTTCCTG 0.378 NA 52 99 2.0833e-19 4.48711e-19 0.01441 1 0 COL12A1 1303 broad.mit.edu 37 6 75813479 75813479 + Silent SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:75813479C>G uc003phs.2 - 55 8479 c.8313G>C c.(8311-8313)GGG>GGC p.G2771G COL12A1_uc003pht.2_Silent_p.G1607G NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2771 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TTACAATTGCCCCACTGATAC 0.343 NA 9 37 0 0 0.008291 0 0 COL12A1 1303 broad.mit.edu 37 6 75825638 75825638 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:75825638C>A uc003phs.2 - 49 7725 c.7559G>T c.(7558-7560)GGT>GTT p.G2520V COL12A1_uc003pht.2_Missense_Mutation_p.G1356V NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2520 TSP N-terminal.|Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CATTTTAAAACCTTTACATCA 0.338 NA 29 56 5.77227e-19 1.23327e-18 0.008361 1 0 SNAP91 9892 broad.mit.edu 37 6 84269919 84269919 + Silent SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:84269919A>T uc011dze.1 - 27 2852 c.2535T>A c.(2533-2535)GCT>GCA p.A845A SNAP91_uc011dzd.1_Silent_p.A343A|SNAP91_uc003pkb.2_Silent_p.A754A|SNAP91_uc003pkc.2_Silent_p.A815A|SNAP91_uc003pkd.2_Silent_p.A538A|SNAP91_uc003pka.2_Silent_p.A843A NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 845 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TGCCTGTCCCAGCAGGAGGCT 0.542 NA 26 57 0 0 0.005443 0 0 HTR1E 3354 broad.mit.edu 37 6 87725963 87725963 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:87725963G>T uc003pli.2 + 2 1614 c.911G>T c.(910-912)TGG>TTG p.W304L NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 304 Helical; Name=6; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ATTTTATCCTGGCTGCCATTT 0.512 NA 81 166 6.47592e-44 1.73125e-43 0.01441 1 0 LAMA4 3910 broad.mit.edu 37 6 112455712 112455712 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:112455712C>T uc003pvu.2 - 26 3823 c.3514G>A c.(3514-3516)GAT>AAT p.D1172N LAMA4_uc003pvv.2_Missense_Mutation_p.D1165N|LAMA4_uc003pvt.2_Missense_Mutation_p.D1165N NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1172 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATGTATATATCTGTAAAAGGT 0.373 NA 17 59 0 0 0.006122 0 0 DSE 29940 broad.mit.edu 37 6 116757507 116757507 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:116757507G>C uc003pws.2 + 6 2070 c.1876G>C c.(1876-1878)GAG>CAG p.E626Q DSE_uc011ebg.1_Missense_Mutation_p.E645Q|DSE_uc003pwt.2_Missense_Mutation_p.E626Q|DSE_uc003pwu.2_Missense_Mutation_p.E293Q NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 626 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TGGCTACAGCGAGAAAGCAAC 0.493 NA 24 68 0 0 0.004656 0 0 GPRC6A 222545 broad.mit.edu 37 6 117130692 117130692 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:117130692G>T uc003pxj.1 - 2 305 c.283C>A c.(283-285)CTG>ATG p.L95M GPRC6A_uc003pxk.1_Missense_Mutation_p.L95M|GPRC6A_uc003pxl.1_Missense_Mutation_p.L95M NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 95 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TCATACCCCAGTTTGACTCCA 0.408 NA 17 47 8.60227e-14 1.69497e-13 0.004007 1 0 LPA 4018 broad.mit.edu 37 6 161007518 161007518 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:161007518C>A uc003qtl.2 - 26 4212 c.4092G>T c.(4090-4092)GTG>GTT p.V1364V NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3872 Kringle 34. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GAACTGGGACCACCGTGGGAG 0.493 NA 32 108 4.34311e-12 8.34127e-12 0.003271 1 0 PDE10A 10846 broad.mit.edu 37 6 165842178 165842178 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:165842178C>A uc003qun.2 - 11 1034 c.793G>T c.(793-795)GTT>TTT p.V265F PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.V195F|PDE10A_uc003quo.2_Missense_Mutation_p.V275F NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 265 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TCTATTGCAACTATGTTATCA 0.308 Esophageal Squamous(22;308 615 5753 12038 40624) NA 11 23 1.58986e-06 2.74613e-06 0.008291 1 0 ABCA13 154664 broad.mit.edu 37 7 48390325 48390325 + Nonsense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:48390325C>A uc003toq.2 + 30 10315 c.10290C>A c.(10288-10290)TGC>TGA p.C3430* ABCA13_uc010kys.1_Nonsense_Mutation_p.C504*|ABCA13_uc003tos.1_Nonsense_Mutation_p.C256* NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3430 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TCTCTTCCTGCGTGGCACTGA 0.522 NA 79 98 8.41775e-28 1.96414e-27 0.01441 1 0 ELN 2006 broad.mit.edu 37 7 73456964 73456964 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:73456964G>T uc003tzw.2 + 6 344 c.253G>T c.(253-255)GTT>TTT p.V85F RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.V85F|ELN_uc003tzz.2_Missense_Mutation_p.V73F|ELN_uc003tzo.2_Missense_Mutation_p.V85F|ELN_uc003tzp.2_Missense_Mutation_p.V75F|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.V85F|ELN_uc003tzt.2_Missense_Mutation_p.V85F|ELN_uc003tzu.2_Missense_Mutation_p.V85F|ELN_uc003tzv.2_Missense_Mutation_p.V75F|ELN_uc003tzx.2_Missense_Mutation_p.V75F|ELN_uc011kff.1_Missense_Mutation_p.V85F|ELN_uc003tzy.2_Missense_Mutation_p.V75F NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 85 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) CTTCCCCGCAGTTACCTTTCC 0.632 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 59 88 1.69475e-38 4.27303e-38 0.01441 1 0 GTF2IRD1 9569 broad.mit.edu 37 7 73969507 73969507 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:73969507C>T uc003uaq.2 + 18 2313 c.1920C>T c.(1918-1920)CCC>CCT p.P640P GTF2IRD1_uc010lbq.2_Silent_p.P672P|GTF2IRD1_uc003uap.2_Silent_p.P640P|GTF2IRD1_uc003uar.1_Silent_p.P640P NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 640 GTF2I-like 3. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 TTTCCAGGCCCGAGCTGCTCA 0.622 NA 14 137 0 0 0.004007 0 0 NPTX2 4885 broad.mit.edu 37 7 98254413 98254413 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:98254413C>A uc003upl.2 + 3 1000 c.823C>A c.(823-825)CAG>AAG p.Q275K NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 275 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GGTGCCAGGGCAGGCCAACGA 0.642 NA 24 105 3.10358e-05 5.27509e-05 0.014323 1 0 AASS 10157 broad.mit.edu 37 7 121758465 121758465 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:121758465C>A uc003vka.2 - 5 679 c.583G>T c.(583-585)GTG>TTG p.V195L AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.V195L|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 195 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) ACAGCTTGCACAGCCTGACTG 0.408 NA 61 70 7.82978e-24 1.7356e-23 0.01441 1 0 GRM8 2918 broad.mit.edu 37 7 126544704 126544704 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:126544704G>T uc003vlr.2 - 3 1072 c.761C>A c.(760-762)CCA>CAA p.P254Q GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.P254Q|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 254 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGGTTCACGTGGGATTTTCTG 0.393 NA HNSCC(24;0.065) 30 101 6.04164e-23 1.33367e-22 0.010818 1 0 LRRC4 64101 broad.mit.edu 37 7 127670542 127670542 + Nonsense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:127670542G>T uc003vmk.2 - 2 289 c.152C>A c.(151-153)TCG>TAG p.S51* SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 51 LRRNT.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) GTTACTGCACGAGCAGACGGA 0.647 NA 79 92 7.63117e-38 1.91499e-37 0.01441 1 0 AHCYL2 23382 broad.mit.edu 37 7 129043237 129043237 + Silent SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:129043237G>C uc011kov.1 + 7 990 c.936G>C c.(934-936)GGG>GGC p.G312G AHCYL2_uc003vot.2_Silent_p.G311G|AHCYL2_uc003vov.2_Silent_p.G209G|AHCYL2_uc011kow.1_Silent_p.G210G|AHCYL2_uc011kox.1_Silent_p.G209G NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 312 one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 ATGATGGAGGGGATCTTACCC 0.408 Pancreas(160;1736 1964 29875 40941 45605) NA 93 118 0 0 0.01441 0 0 JHDM1D 80853 broad.mit.edu 37 7 139827360 139827360 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:139827360T>C uc003vvm.2 - 5 587 c.583A>G c.(583-585)ATT>GTT p.I195V NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 195 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) GCCACATCAATGACATCTATC 0.353 NA 67 210 0 0 0.01441 0 0 PIP 5304 broad.mit.edu 37 7 142832325 142832326 + Nonsense_Mutation DNP CA CA AG TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:142832325_142832326CA>AG uc003wcf.1 + 2 170_171 c.134_135CA>AG c.(133-135)TCA>TAG p.S45* NM_002652 NP_002643 P12273 PIP_HUMAN prolactin-induced protein precursor 45 extracellular region actin binding ovary(1) 1 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) ATTCCCAAGTCAGTACGTCCAA 0.446 NA 13 17 0 0 0.004672 0 0 SSPO 23145 broad.mit.edu 37 7 149502627 149502627 + Nonsense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:149502627G>T uc010lpk.2 + 58 8440 c.8440G>T c.(8440-8442)GGA>TGA p.G2814* NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2814 TSP type-1 7. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATCCTGCCCAGGAGATGCCAC 0.682 NA 23 53 2.52088e-20 5.45165e-20 0.00278 1 0 GIMAP4 55303 broad.mit.edu 37 7 150269516 150269516 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:150269516G>T uc003whl.2 + 3 440 c.358G>T c.(358-360)GTG>TTG p.V120L GIMAP4_uc011kuu.1_Intron|GIMAP4_uc011kuv.1_Missense_Mutation_p.V134L NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 120 GTP binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTGCTTCTGGTGGTTCCACT 0.493 NA 22 71 7.87624e-14 1.56349e-13 0.00278 1 0 ATG9B 285973 broad.mit.edu 37 7 150720252 150720252 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:150720252C>A uc011kvc.1 - 4 777 c.701G>T c.(700-702)CGA>CTA p.R234L ATG9B_uc003wig.3_RNA NM_173681 NP_775952 Q674R7 ATG9B_HUMAN ATG9 autophagy related 9 homolog B 234 Lumenal (By similarity). autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane ovary(1) 1 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATCCACGCATCGAAGGAGGAA 0.542 NA 85 200 5.92634e-42 1.55311e-41 0.01441 1 0 WDR60 55112 broad.mit.edu 37 7 158715218 158715218 + Missense_Mutation SNP A A C rs2730238 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:158715218A>C uc003woe.3 + 16 2230 c.2072A>C c.(2071-2073)AAA>ACA p.K691T WDR60_uc010lqv.2_Intron|WDR60_uc010lqw.2_Missense_Mutation_p.K323T NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 691 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GGGCCACAGAAAGTTCTGATA 0.552 NA 11 38 0 0 0.008291 0 0 LZTS1 11178 broad.mit.edu 37 8 20110358 20110358 + Nonsense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:20110358T>A uc003wzr.2 - 2 1195 c.1084A>T c.(1084-1086)AAG>TAG p.K362* LZTS1_uc010ltg.1_Nonsense_Mutation_p.K362* NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 362 Potential. cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GACCTGAGCTTGGTCTCCAGC 0.642 NA 23 63 0 0 0.014323 0 0 CLU 1191 broad.mit.edu 37 8 27466544 27466544 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:27466544C>A uc003xfw.1 - 2 215 c.157G>T c.(157-159)GTG>TTG p.V53L CLU_uc010lux.1_Intron|CLU_uc003xfx.1_Missense_Mutation_p.V53L|CLU_uc003xfy.1_Missense_Mutation_p.V64L|CLU_uc003xfz.1_Missense_Mutation_p.V105L NM_203339 NP_976084 P10909 CLUS_HUMAN clusterin isoform 2 53 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding ovary(2) 2 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) ATCTGTTTCACCCCGTTGACA 0.443 NA 77 166 6.20995e-33 1.51546e-32 0.01441 1 0 UNC5D 137970 broad.mit.edu 37 8 35616958 35616958 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:35616958T>C uc003xjr.1 + 14 2612 c.2284T>C c.(2284-2286)TGG>CGG p.W762R UNC5D_uc003xjs.1_Missense_Mutation_p.W757R|UNC5D_uc003xju.1_Missense_Mutation_p.W338R NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 762 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCCATTCCTCTGGAGAATTAA 0.458 NA 4 411 0 0 0.000602 0 0 HTRA4 203100 broad.mit.edu 37 8 38845496 38845496 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:38845496G>A uc003xmj.2 + 9 1425 c.1310G>A c.(1309-1311)GGG>GAG p.G437E NM_153692 NP_710159 P83105 HTRA4_HUMAN HtrA serine peptidase 4 precursor 437 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity 0 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) AACATAAATGGGAAACCTATT 0.383 NA 31 61 0 0 0.010818 0 0 SNTG1 54212 broad.mit.edu 37 8 51465741 51465741 + Splice_Site SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:51465741T>A uc010lxy.1 + 13 1181 c.810_splice c.e13+2 p.N270_splice SNTG1_uc003xqs.1_Splice_Site_p.N270_splice|SNTG1_uc010lxz.1_Splice_Site_p.N270_splice|SNTG1_uc011ldl.1_Splice_Site NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) AAGCACAATGTAAGTAATGAT 0.408 NA 29 42 0 0 0.010818 0 0 PXDNL 137902 broad.mit.edu 37 8 52359687 52359687 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:52359687G>A uc003xqu.3 - 12 1503 c.1402C>T c.(1402-1404)CTC>TTC p.L468F NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 468 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCAGAGGAGAGAACTGTATGC 0.507 NA 33 228 0 0 0.009535 0 0 RP1 6101 broad.mit.edu 37 8 55537428 55537428 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:55537428G>T uc003xsd.1 + 4 1134 c.986G>T c.(985-987)GGC>GTC p.G329V RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 329 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AATCAAGACGGCACTATGACA 0.323 Colon(91;1014 1389 7634 14542 40420) NA 20 65 5.03518e-11 9.5328e-11 0.007413 1 0 CRISPLD1 83690 broad.mit.edu 37 8 75924705 75924706 + Missense_Mutation DNP GG GG TT TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:75924705_75924706GG>TT uc003yan.2 + 3 671_672 c.296_297GG>TT c.(295-297)TGG>TTT p.W99F CRISPLD1_uc011lfk.1_5'UTR|CRISPLD1_uc011lfl.1_5'UTR NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 99 extracellular region p.W99R(1) ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) GCAGAATCCTGGGCTGAAAGTT 0.441 NA 58 96 0 0 0.004672 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775684 77775684 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:77775684C>A uc003yav.2 + 11 9986 c.9599C>A c.(9598-9600)GCA>GAA p.A3200E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3196 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGTTGCAGGCATTACAGAAT 0.438 NA HNSCC(33;0.089) 119 215 2.06061e-42 5.42696e-42 0.01441 1 0 ZBTB10 65986 broad.mit.edu 37 8 81399761 81399761 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:81399761C>A uc003ybx.3 + 1 1314 c.716C>A c.(715-717)CCC>CAC p.P239H ZBTB10_uc003ybv.3_Intron|ZBTB10_uc003ybw.3_Missense_Mutation_p.P239H|ZBTB10_uc010lzt.2_Missense_Mutation_p.P239H NM_001105539 NP_001099009 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 isoform 239 transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1) 1 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) CTCGCGCGGCCCAAGTCTCTA 0.423 NA 8 8 0.00307968 0.00507241 0.00308 1 0 CA1 759 broad.mit.edu 37 8 86249258 86249258 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:86249258C>G uc003ydh.2 - 5 470 c.270G>C c.(268-270)AGG>AGC p.R90S CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Missense_Mutation_p.R90S|CA1_uc003ydi.2_Missense_Mutation_p.R90S NM_001738 NP_001729 P00915 CAH1_HUMAN carbonic anhydrase I 90 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) ACTGAAAGAGCCTGTAGCTGT 0.423 NA 72 106 0 0 0.01441 0 0 RUNX1T1 862 broad.mit.edu 37 8 93003958 93003958 + Nonsense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:93003958G>T uc003yfd.2 - 6 984 c.900C>A c.(898-900)TAC>TAA p.Y300* RUNX1T1_uc003yfc.1_Nonsense_Mutation_p.Y273*|RUNX1T1_uc003yfe.1_Nonsense_Mutation_p.Y263*|RUNX1T1_uc010mao.2_Nonsense_Mutation_p.Y273*|RUNX1T1_uc011lgi.1_Nonsense_Mutation_p.Y311*|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Nonsense_Mutation_p.Y263* NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 300 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CATCCAAACGGTAATGCTGAG 0.557 NA 74 127 1.88737e-50 5.09685e-50 0.01441 1 0 CCNE2 9134 broad.mit.edu 37 8 95897326 95897326 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:95897326T>A uc003yhc.2 - 9 909 c.800A>T c.(799-801)TAT>TTT p.Y267F CCNE2_uc003yhd.2_Missense_Mutation_p.Y267F NM_057749 NP_477097 O96020 CCNE2_HUMAN cyclin E2 267 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding 0 Breast(36;8.75e-07) TTCCTGAGAATACTGAGGTAG 0.323 NA 22 74 0 0 0.012319 0 0 PTDSS1 9791 broad.mit.edu 37 8 97311923 97311924 + Missense_Mutation DNP TC TC AA TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:97311923_97311924TC>AA uc003yht.1 + 6 704_705 c.602_603TC>AA c.(601-603)CTC>CAA p.L201Q PTDSS1_uc003yhu.1_Missense_Mutation_p.L55Q NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 201 Helical; (Potential). phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) GTTTCTCAGCTCTTCTTCATGC 0.436 NA 57 253 0 0 0.004672 0 0 PGCP 10404 broad.mit.edu 37 8 97797326 97797327 + Missense_Mutation DNP GG GG AA TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:97797326_97797327GG>AA uc003yhw.2 + 2 367_368 c.201_202GG>AA c.(199-204)TTGGCA>TTAACA p.A68T PGCP_uc010mbe.2_Missense_Mutation_p.A68T NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 68 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) ATGAGCGATTGGCACTTCTGGT 0.436 NA 50 97 0 0 0.004672 0 0 CSMD3 114788 broad.mit.edu 37 8 113293408 113293408 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:113293408C>G uc003ynu.2 - 59 9662 c.9503G>C c.(9502-9504)TGT>TCT p.C3168S CSMD3_uc003yns.2_Missense_Mutation_p.C2370S|CSMD3_uc003ynt.2_Missense_Mutation_p.C3128S|CSMD3_uc011lhx.1_Missense_Mutation_p.C2999S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3168 Extracellular (Potential).|Sushi 23. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTTACTTGTACAGTTAGGTAA 0.318 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 65 0 0 0.003954 0 0 CSMD3 114788 broad.mit.edu 37 8 113668416 113668416 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:113668416G>C uc003ynu.2 - 18 3130 c.2971C>G c.(2971-2973)CGT>GGT p.R991G CSMD3_uc003yns.2_Missense_Mutation_p.R263G|CSMD3_uc003ynt.2_Missense_Mutation_p.R951G|CSMD3_uc011lhx.1_Missense_Mutation_p.R887G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 991 Extracellular (Potential).|CUB 5. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTATTGGAACGACTGTTGTCT 0.328 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 105 0 0 0.00623 0 0 ZFAT 57623 broad.mit.edu 37 8 135614646 135614646 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:135614646T>A uc003yup.2 - 6 1491 c.1316A>T c.(1315-1317)CAT>CTT p.H439L ZFAT_uc003yun.2_Missense_Mutation_p.H427L|ZFAT_uc003yuo.2_Missense_Mutation_p.H427L|ZFAT_uc010meh.2_Missense_Mutation_p.H427L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.H427L|ZFAT_uc010mej.2_Missense_Mutation_p.H377L|ZFAT_uc003yur.2_Missense_Mutation_p.H427L NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 439 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GGTGGCCCCATGGCCACAGAG 0.587 NA 19 88 0 0 0.008871 0 0 PYCRL 65263 broad.mit.edu 37 8 144687961 144687961 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:144687961A>T uc003yyy.2 - 6 780 c.770T>A c.(769-771)CTC>CAC p.L257H PYCRL_uc011lkm.1_Missense_Mutation_p.L237H|PYCRL_uc011lkn.1_RNA NM_023078 NP_075566 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 245 proline biosynthetic process pyrroline-5-carboxylate reductase activity 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CAGGGCGTGGAGTCCATAGAT 0.682 NA 19 104 0 0 0.010504 0 0 FAM83H 286077 broad.mit.edu 37 8 144808765 144808765 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:144808765T>A uc003yzk.2 - 5 2935 c.2866A>T c.(2866-2868)AGC>TGC p.S956C FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 956 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) ATGGGGCCGCTCGGCCCCTCC 0.711 NA 18 34 0 0 0.007413 0 0 EPPK1 83481 broad.mit.edu 37 8 144940476 144940476 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:144940476C>A uc003zaa.1 - 2 14969 c.14956G>T c.(14956-14958)GGG>TGG p.G4986W NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 4986 Plectin 63. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATCTGCTGCCCGGTGTAGGGG 0.706 NA 49 594 4.00472e-15 8.16287e-15 0.01441 1 0 CPSF1 29894 broad.mit.edu 37 8 145622562 145622562 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:145622562G>T uc003zcj.2 - 23 2527 c.2452C>A c.(2452-2454)CTT>ATT p.L818I NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 818 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CTGTCCACAAGGACCCGCTGC 0.662 NSCLC(133;1088 1848 27708 34777 35269) NA 5 6 1.6384e-10 3.02649e-10 0.001984 1 0 MPDZ 8777 broad.mit.edu 37 9 13192152 13192152 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr9:13192152C>G uc010mia.1 - 14 2003 c.1946G>C c.(1945-1947)TGT>TCT p.C649S MPDZ_uc010mhy.2_Missense_Mutation_p.C649S|MPDZ_uc010mhz.2_Missense_Mutation_p.C649S|MPDZ_uc011lmn.1_Missense_Mutation_p.C649S|MPDZ_uc003zlb.3_Missense_Mutation_p.C649S NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 649 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) CTCAATATCACATAAGTCCAG 0.378 NA 7 8 0 0 0.001984 0 0 BNC2 54796 broad.mit.edu 37 9 16727855 16727855 + Silent SNP T T A rs79432515 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr9:16727855T>A uc003zml.2 - 3 410 c.270A>T c.(268-270)CCA>CCT p.P90P BNC2_uc011lmw.1_Intron|BNC2_uc003zmm.2_Silent_p.P48P|BNC2_uc003zmq.1_Silent_p.P104P|BNC2_uc003zmr.1_Silent_p.P90P|BNC2_uc003zmp.1_Silent_p.P90P|BNC2_uc010mij.1_Silent_p.P12P|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_RNA|BNC2_uc010min.1_Intron|BNC2_uc003zmo.1_Silent_p.P12P NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) CCATGAACCCTGGTTCAGCCG 0.343 NA 62 171 0 0 0.01441 0 0 PIGO 84720 broad.mit.edu 37 9 35095491 35095491 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr9:35095491G>A uc003zwd.2 - 2 468 c.72C>T c.(70-72)TTC>TTT p.F24F PIGO_uc003zwc.1_Silent_p.F24F|PIGO_uc003zwe.2_Silent_p.F24F|PIGO_uc003zwf.2_Silent_p.F24F|PIGO_uc003zwg.1_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 24 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGCCACTGGTGAAGAGGGCAA 0.582 NA 7 8 0 0 0.00308 0 0 ECM2 1842 broad.mit.edu 37 9 95284981 95284981 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr9:95284981C>T uc004ash.2 - 2 233 c.168G>A c.(166-168)CAG>CAA p.Q56Q CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Silent_p.Q56Q|ECM2_uc011lty.1_Silent_p.Q56Q|ECM2_uc004asg.2_Silent_p.Q56Q|ECM2_uc011ltz.1_Silent_p.Q56Q|ECM2_uc004asi.2_Silent_p.Q56Q NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 56 cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 CTGTTGTTTGCTGAATTCCAA 0.388 NA 75 78 0 0 0.01441 0 0 OR13C8 138802 broad.mit.edu 37 9 107331760 107331760 + Silent SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr9:107331760T>A uc011lvo.1 + 1 312 c.312T>A c.(310-312)TCT>TCA p.S104S NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGTTTATTTCTTTTGCCATGG 0.483 NA 97 58 0 0 0.01441 0 0 FAM47A 158724 broad.mit.edu 37 X 34148697 34148697 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:34148697G>T uc004ddg.2 - 1 1732 c.1699C>A c.(1699-1701)CAT>AAT p.H567N NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 567 ovary(4)|central_nervous_system(1) 5 GAGAATTGATGGGACTCTGGA 0.547 NA 63 16 7.73544e-29 1.82091e-28 0.01441 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77913138 77913138 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:77913138A>G uc004edc.1 - 2 1076 c.780T>C c.(778-780)AGT>AGC p.S260S NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 260 nucleic acid binding|zinc ion binding p.S260T(1) ovary(1) 1 CTCTCATGTAACTATACAGCT 0.507 NA 5 16 0 0 0.000602 0 0 CYLC1 1538 broad.mit.edu 37 X 83128348 83128348 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:83128348C>A uc004eei.1 + 4 653 c.632C>A c.(631-633)ACT>AAT p.T211N CYLC1_uc004eeh.1_Missense_Mutation_p.T210N NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 211 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 AAGACAAACACTGAATTCCTA 0.308 NA 21 10 1.01871e-10 1.9016e-10 0.008871 1 0 GPR50 9248 broad.mit.edu 37 X 150349641 150349641 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:150349641C>A uc010ntg.1 + 2 1721 c.1586C>A c.(1585-1587)CCT>CAT p.P529H NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 529 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) ACCAGCCACCCTAAGCCCACT 0.612 NA 89 25 2.39224e-78 6.84232e-78 0.01441 1 0 MAGEA12 4111 broad.mit.edu 37 X 151899994 151899994 + Nonsense_Mutation SNP G G T rs147399924 byFrequency TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:151899994G>T uc010ntp.2 - 3 1161 c.807C>A c.(805-807)TAC>TAA p.Y269* MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Nonsense_Mutation_p.Y269* NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 269 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) ACAGGAACTCGTAGCATGCAG 0.542 NA 25 341 9.57634e-11 1.79388e-10 0.00333 1 0 DUSP9 1852 broad.mit.edu 37 X 152915633 152915633 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:152915633G>C uc004fhx.3 + 4 1232 c.1028G>C c.(1027-1029)AGC>ACC p.S343T DUSP9_uc004fhy.3_Missense_Mutation_p.S343T NM_001395 NP_001386 Q99956 DUS9_HUMAN dual specificity phosphatase 9 343 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTTGAGCGCAGCTTGCGGCTG 0.602 NA 142 43 0 0 0.01441 0 0 MST1P9 11223 broad.mit.edu 37 1 17086085 17086086 + Frame_Shift_Ins INS - - C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:17086085_17086086insC uc010ock.1 - 7 811_812 c.811_812insG c.(811-813)GCGfs p.A271fs CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 GGCAAGGTACGCCGCGGTGGTG 0.649 NA 3 4 --- --- --- --- NA NA NA NA NA PPFIBP2 8495 broad.mit.edu 37 11 7661015 7661020 + In_Frame_Del DEL CAGGAG CAGGAG - rs137855547 byFrequency TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 CAGGAG CAGGAG - - CAGGAG CAGGAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:7661015_7661020delCAGGAG uc001mfj.3 + 15 1677_1682 c.1289_1294delCAGGAG c.(1288-1296)TCAGGAGCC>TCC p.GA431del PPFIBP2_uc010rbb.1_In_Frame_Del_p.GA354del|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_In_Frame_Del_p.GA354del|PPFIBP2_uc010rbd.1_In_Frame_Del_p.GA273del|PPFIBP2_uc010rbe.1_In_Frame_Del_p.GA319del|PPFIBP2_uc001mfl.3_In_Frame_Del_p.GA288del|PPFIBP2_uc009yfj.1_In_Frame_Del_p.GA75del NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 431_432 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GGGAAGCTTTCAGGAGCCACGCCCAA 0.568 NA 53 245 --- --- --- --- NA NA NA NA NA LRRIQ1 84125 broad.mit.edu 37 12 85449548 85449549 + Frame_Shift_Ins INS - - A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:85449548_85449549insA uc001tac.2 + 8 1088_1089 c.977_978insA c.(976-978)GCAfs p.A326fs LRRIQ1_uc001tab.1_Frame_Shift_Ins_p.A326fs|LRRIQ1_uc001taa.1_Frame_Shift_Ins_p.A301fs NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 326 Glu-rich. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) gaaaaggaagcaaaaatacgac 0.084 NA 17 59 --- --- --- --- NA NA NA NA NA CHRNA3 1136 broad.mit.edu 37 15 78913068 78913070 + In_Frame_Del DEL CAG CAG - rs66793222 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 CAG CAG - - CAG CAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:78913068_78913070delCAG uc002bec.2 - 1 253_255 c.67_69delCTG c.(67-69)CTGdel p.L23del CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_In_Frame_Del_p.L23del NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 23 Missing. activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 gcagcagagacagcagcagcagc 0.601 NA 4 3 --- --- --- --- NA NA NA NA NA LASS3 204219 broad.mit.edu 37 15 101013174 101013174 + Frame_Shift_Del DEL C C - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:101013174delC uc002bvz.2 - 10 1195 c.693delG c.(691-693)GGGfs p.G231fs LASS3_uc002bwa.2_Frame_Shift_Del_p.G242fs|LASS3_uc002bwb.2_Frame_Shift_Del_p.G231fs NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 231 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) TCACGAGGGTCCCACTGCGAA 0.433 NSCLC(135;1149 2482 10680 49908) NA 24 129 --- --- --- --- NA NA NA NA NA MPP3 4356 broad.mit.edu 37 17 41905182 41905182 + Frame_Shift_Del DEL C C - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:41905182delC uc002iei.3 - 8 626 c.460delG c.(460-462)GACfs p.D154fs MPP3_uc002ieh.2_Frame_Shift_Del_p.D179fs|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Frame_Shift_Del_p.D154fs|MPP3_uc010wik.1_Frame_Shift_Del_p.D179fs NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 154 PDZ. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) GAGTGCTCGTCCCGCCGGATG 0.627 NA 41 156 --- --- --- --- NA NA NA NA NA ATP9B 374868 broad.mit.edu 37 18 77102279 77102289 + Frame_Shift_Del DEL AACAGGCGATA AACAGGCGATA - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 AACAGGCGATA AACAGGCGATA - - AACAGGCGATA AACAGGCGATA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr18:77102279_77102289delAACAGGCGATA uc002lmx.2 + 20 2309_2319 c.2295_2305delAACAGGCGATA c.(2293-2307)CTAACAGGCGATAAAfs p.L765fs ATP9B_uc002lmw.1_Frame_Shift_Del_p.L765fs|ATP9B_uc002lmz.1_Frame_Shift_Del_p.L459fs|ATP9B_uc002lna.2_5'Flank NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 765_769 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) TATGGATGCTAACAGGCGATAAACTCGAGAC 0.28 NA 16 124 --- --- --- --- NA NA NA NA NA SPRED2 200734 broad.mit.edu 37 2 65540928 65540928 + Frame_Shift_Del DEL G G - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:65540928delG uc002sdr.3 - 6 1499 c.964delC c.(964-966)CGCfs p.R322fs SPRED2_uc010fcw.2_Frame_Shift_Del_p.R319fs NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 322 SPR. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 TGGCCCCGGCGGTTCTCCTCG 0.662 NA 94 260 --- --- --- --- NA NA NA NA NA EYA2 2139 broad.mit.edu 37 20 45808534 45808535 + Frame_Shift_Ins INS - - A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:45808534_45808535insA uc002xsm.2 + 13 1661_1662 c.1287_1288insA c.(1285-1290)CTGAAGfs p.L429fs EYA2_uc010ghp.2_Intron|EYA2_uc002xsn.2_Frame_Shift_Ins_p.L434fs|EYA2_uc002xso.2_Frame_Shift_Ins_p.L429fs|EYA2_uc002xsp.2_Frame_Shift_Ins_p.L429fs|EYA2_uc002xsq.2_Frame_Shift_Ins_p.L399fs NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 429_430 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) CCCACTCCCTGAAGGCACTAAA 0.559 Pancreas(120;56 1725 18501 25218 43520) NA 47 64 --- --- --- --- NA NA NA NA NA YTHDC1 91746 broad.mit.edu 37 4 69199072 69199073 + Frame_Shift_Ins INS - - G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:69199072_69199073insG uc003hdx.2 - 5 1279_1280 c.926_927insC c.(925-927)CCAfs p.P309fs YTHDC1_uc003hdy.2_Frame_Shift_Ins_p.P309fs NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 309 upper_aerodigestive_tract(1)|ovary(1) 2 CAAAAACAATTGGAGATATGCC 0.332 NA 75 260 --- --- --- --- NA NA NA NA NA RICTOR 253260 broad.mit.edu 37 5 38959321 38959325 + Frame_Shift_Del DEL GGAAA GGAAA - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 GGAAA GGAAA - - GGAAA GGAAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:38959321_38959325delGGAAA uc003jlp.2 - 22 2174_2178 c.2150_2154delTTTCC c.(2149-2154)CTTTCCfs p.L717fs RICTOR_uc003jlo.2_Frame_Shift_Del_p.L717fs|RICTOR_uc010ivf.2_Frame_Shift_Del_p.L432fs NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 717_718 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TTAAAATTTTGGAAAGGATGACTCT 0.337 NA 8 109 --- --- --- --- NA NA NA NA NA