Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values CAMTA1 23261 broad.mit.edu 37 1 7811328 7811329 + Frame_Shift_Ins INS - A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr1:7811328_7811329insA uc001aoi.2 + 20 4966_4967 c.4759_4760insA c.(4759-4761)CAAfs p.Q1587fs CAMTA1_uc001aok.3_Frame_Shift_Ins_p.Q630fs|CAMTA1_uc001aoj.2_Frame_Shift_Ins_p.Q550fs|CAMTA1_uc009vmf.2_Frame_Shift_Ins_p.Q177fs NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1587 IQ 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TTACTATGAACAAAAAAAATTC 0.470 SPRR1B 6699 broad.mit.edu 37 1 153004854 153004854 + Silent SNP C G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr1:153004854C>G uc001fba.2 + 2 97 c.33C>G c.(31-33)ACC>ACG p.T11T SPRR1B_uc009wnx.1_RNA NM_003125 NP_003116 P22528 SPR1B_HUMAN small proline-rich protein 1B 11 1.|2 X 12 AA approximate repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(1) 1 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGCCTTGCACCCCACCCCCTC 0.557 NUP210L 91181 broad.mit.edu 37 1 154062058 154062058 + Nonsense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr1:154062058G>A uc001fdw.2 - 16 2272 c.2200C>T c.(2200-2202)CGA>TGA p.R734* NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Nonsense_Mutation_p.R734* NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 734 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTTCCAATTCGGAATGTGAGA 0.423 ATP1A4 480 broad.mit.edu 37 1 160136448 160136448 + Missense_Mutation SNP G A A rs139315814 TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr1:160136448G>A uc001fve.3 + 8 1657 c.1178G>A c.(1177-1179)CGC>CAC p.R393H ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 393 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACCCAGAACCGCATGACCGTC 0.577 SELP 6403 broad.mit.edu 37 1 169562857 169562857 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr1:169562857C>T uc001ggi.3 - 14 2458 c.2393G>A c.(2392-2394)CGT>CAT p.R798H SELP_uc001ggh.2_Intron|SELP_uc009wvr.2_Missense_Mutation_p.R797H NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 798 Cytoplasmic (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TTGTCTGAAACGCTTTCTTAG 0.423 FMO3 2328 broad.mit.edu 37 1 171080061 171080061 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr1:171080061C>T uc001ghi.2 + 6 861 c.750C>T c.(748-750)GCC>GCT p.A250A FMO3_uc001ghh.2_Silent_p.A250A|FMO3_uc010pmb.1_Silent_p.A230A|FMO3_uc010pmc.1_Silent_p.A187A NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 250 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TACCGACAGCCATCTCTGACT 0.468 TNN 63923 broad.mit.edu 37 1 175067712 175067712 + Silent SNP C T T rs150075962 by1000genomes TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr1:175067712C>T uc001gkl.1 + 9 2213 c.2100C>T c.(2098-2100)GCC>GCT p.A700A TNN_uc010pmx.1_Silent_p.A611A NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 700 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCAAGAAGGCCGACACCAAGG 0.572 OR2T11 127077 broad.mit.edu 37 1 248790297 248790297 + Silent SNP A G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr1:248790297A>G uc001ier.1 - 1 133 c.133T>C c.(133-135)TTG>CTG p.L45L NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 45 Helical; Name=1; (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) ACCTGAATCAAGAATATCATG 0.502 C10orf47 254427 broad.mit.edu 37 10 11908649 11908649 + Silent SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr10:11908649G>A uc001ikx.2 + 3 412 c.258G>A c.(256-258)GTG>GTA p.V86V uc001iky.1_Intron NM_153256 NP_694988 Q86WR7 CJ047_HUMAN hypothetical protein LOC254427 86 central_nervous_system(1) 1 ATGGAGGAGTGTGCTGCCTCT 0.577 PPYR1 5540 broad.mit.edu 37 10 47086808 47086808 + Missense_Mutation SNP T A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr10:47086808T>A uc001jee.2 + 3 444 c.25T>A c.(25-27)TTG>ATG p.L9M ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.L9M NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 9 Extracellular (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 CCTCCTGGCCTTGCTGCTCCC 0.493 PPYR1 5540 broad.mit.edu 37 10 47087737 47087737 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr10:47087737C>T uc001jee.2 + 3 1373 c.954C>T c.(952-954)AAC>AAT p.N318N ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.N318N NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 318 Helical; Name=7; (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 CCTGCGTCAACCCATTCATCT 0.572 KIAA0913 23053 broad.mit.edu 37 10 75553915 75553915 + Missense_Mutation SNP C G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr10:75553915C>G uc009xrl.2 + 13 2668 c.2636C>G c.(2635-2637)GCA>GGA p.A879G KIAA0913_uc001jve.2_Missense_Mutation_p.A879G|KIAA0913_uc001jvf.2_Missense_Mutation_p.A879G|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.A302G|KIAA0913_uc010qkr.1_Missense_Mutation_p.A302G|KIAA0913_uc001jvj.2_Missense_Mutation_p.A302G NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 879 zinc ion binding breast(1) 1 Prostate(51;0.0112) GTGAAGCTGGCATACCAGGAG 0.552 EBF3 253738 broad.mit.edu 37 10 131755521 131755521 + Splice_Site SNP C G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr10:131755521C>G uc001lki.1 - 6 613 c.554_splice c.e6+1 p.R185_splice NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GTCATCCTTACCTGTCAATGA 0.423 IFITM1 8519 broad.mit.edu 37 11 314253 314253 + Missense_Mutation SNP A G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr11:314253A>G uc001loy.3 + 1 263 c.83A>G c.(82-84)CAC>CGC p.H28R NM_003641 NP_003632 P13164 IFM1_HUMAN interferon induced transmembrane protein 1 28 Extracellular (Potential). negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding|receptor signaling protein activity 0 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) ATCAACATCCACAGCGAGACC 0.582 ZNF215 7762 broad.mit.edu 37 11 6977376 6977376 + Nonsense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr11:6977376C>T uc001mey.2 + 7 1756 c.1168C>T c.(1168-1170)CGA>TGA p.R390* ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Nonsense_Mutation_p.R152*|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 390 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) AGCCTTCTGCCGAAGTTCATC 0.393 OR5P2 120065 broad.mit.edu 37 11 7818191 7818191 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr11:7818191G>A uc001mfp.1 - 1 299 c.299C>T c.(298-300)GCG>GTG p.A100V NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAAGAAAGCCGCTGAACCAAG 0.483 OR5I1 10798 broad.mit.edu 37 11 55703444 55703444 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr11:55703444G>A uc010ris.1 - 1 433 c.433C>T c.(433-435)CGG>TGG p.R145W NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACAATCAACCGCATACAGATG 0.428 FGD4 121512 broad.mit.edu 37 12 32763711 32763711 + Silent SNP A G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr12:32763711A>G uc001rkz.2 + 9 1611 c.1134A>G c.(1132-1134)AAA>AAG p.K378K FGD4_uc001rlc.2_Silent_p.K463K|FGD4_uc001rky.2_Silent_p.K130K|FGD4_uc001rla.2_Silent_p.K34K|FGD4_uc010ske.1_Silent_p.K490K|FGD4_uc001rlb.1_RNA NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 378 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) CCCATTTAGAATCACTTGAAA 0.343 KRT75 9119 broad.mit.edu 37 12 52818468 52818468 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr12:52818468C>T uc001saj.2 - 9 1511 c.1489G>A c.(1489-1491)GGT>AGT p.G497S NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 497 Tail. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) CTGCCCCCACCGAGGCCCAGG 0.622 KRT6B 3854 broad.mit.edu 37 12 52841572 52841572 + Missense_Mutation SNP C T T rs60627726 TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr12:52841572C>T uc001sak.2 - 7 1462 c.1414G>A c.(1414-1416)GAG>AAG p.E472K NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 472 Rod.|Coil 2. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) CTGCACTCCTCGCCCTCCAGC 0.597 TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T - - TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr12:88566417delT uc001tau.2 + 8 1314 c.1094delT c.(1093-1095)CTTfs p.L365fs TMTC3_uc009zsm.2_RNA NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 365 Helical; (Potential). integral to membrane binding skin(1) 1 GCATCGAACCTTTTTTTTCCA 0.303 ANO4 121601 broad.mit.edu 37 12 101295584 101295584 + Silent SNP A G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr12:101295584A>G uc010svm.1 + 2 593 c.21A>G c.(19-21)GGA>GGG p.G7G ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Silent_p.G7G|ANO4_uc001thx.2_Silent_p.G7G NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 7 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GCTCTTCTGGAATCACTAATG 0.522 HNSCC(74;0.22) ACACB 32 broad.mit.edu 37 12 109629703 109629703 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr12:109629703G>A uc001tob.2 + 15 2466 c.2347G>A c.(2347-2349)GCC>ACC p.A783T ACACB_uc001toc.2_Missense_Mutation_p.A783T NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 783 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) CTTGAACGTGGCCGATGCGAT 0.532 VPS33A 65082 broad.mit.edu 37 12 122734578 122734578 + Missense_Mutation SNP C G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr12:122734578C>G uc001ucd.2 - 6 728 c.615G>C c.(613-615)ATG>ATC p.M205I VPS33A_uc001ucc.2_RNA NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 205 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) TCCTGATCATCATATTGGCCA 0.383 PARP4 143 broad.mit.edu 37 13 25052379 25052379 + Missense_Mutation SNP T C C TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr13:25052379T>C uc001upl.2 - 13 1590 c.1484A>G c.(1483-1485)GAT>GGT p.D495G PARP4_uc010tdc.1_Missense_Mutation_p.D495G NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 495 PARP catalytic. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TCTGGTGCCATCTGTCTCTCC 0.438 NBEA 26960 broad.mit.edu 37 13 36124652 36124652 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr13:36124652G>A uc001uvb.2 + 42 6830 c.6624G>A c.(6622-6624)ATG>ATA p.M2208I NBEA_uc010abi.2_Missense_Mutation_p.M864I|NBEA_uc010tee.1_Missense_Mutation_p.M1I|NBEA_uc010tef.1_Missense_Mutation_p.M1I|NBEA_uc010teg.1_Missense_Mutation_p.M1I NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2208 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GAAAATGGATGTTCAGCGAGA 0.363 SLITRK1 114798 broad.mit.edu 37 13 84455093 84455093 + Missense_Mutation SNP G C C TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr13:84455093G>C uc001vlk.2 - 1 1436 c.550C>G c.(550-552)CTC>GTC p.L184V NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 184 Extracellular (Potential).|LRR 6. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TTACCCCGGAGGTCGAGGTGG 0.532 NALCN 259232 broad.mit.edu 37 13 101707744 101707744 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr13:101707744G>A uc001vox.1 - 44 5309 c.5120C>T c.(5119-5121)ACT>ATT p.T1707I NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1707 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGCCGCGTCAGTCATGGGGTT 0.507 OR4M1 441670 broad.mit.edu 37 14 20248846 20248846 + Missense_Mutation SNP G A A rs143164519 byFrequency TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr14:20248846G>A uc010tku.1 + 1 365 c.365G>A c.(364-366)CGC>CAC p.R122H NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCCTATGACCGCTATGCTGCT 0.502 SUPT16H 11198 broad.mit.edu 37 14 21826560 21826560 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr14:21826560C>T uc001wao.2 - 20 2667 c.2328G>A c.(2326-2328)CTG>CTA p.L776L SUPT16H_uc001wan.2_5'UTR NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 776 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) AGGCTGTTTTCAGTTTGTGCC 0.378 CTSG 1511 broad.mit.edu 37 14 25044566 25044566 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr14:25044566C>T uc001wpq.2 - 2 145 c.108G>A c.(106-108)GCG>GCA p.A36A NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 36 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) TCTGAAGATACGCCATGTAGG 0.572 ANPEP 290 broad.mit.edu 37 15 90348339 90348339 + Nonsense_Mutation SNP G C C TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr15:90348339G>C uc002bop.3 - 4 1159 c.867C>G c.(865-867)TAC>TAG p.Y289* NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 289 Extracellular.|Interaction with HCoV-229E.|Metalloprotease. DYVEKQAS->QSVEETAQ: No change in receptor activity and HCoV-229E infection.|DYVEKQAS->QSVNETAQ: Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity.|DYVEKQAS->QSVNEQAQ: No change in receptor activity and HCoV-229E infection. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GCTTCTCCACGTAGTCGAACT 0.567 TPSD1 23430 broad.mit.edu 37 16 1306608 1306608 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr16:1306608C>T uc002clb.1 + 2 183 c.174C>T c.(172-174)CGC>CGT p.R58R TPSD1_uc010brm.1_5'UTR NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 58 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) TGAGAGTCCGCGGCCCATACT 0.697 RBBP6 5930 broad.mit.edu 37 16 24552109 24552109 + Silent SNP A G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr16:24552109A>G uc002dmh.2 + 1 1202 c.162A>G c.(160-162)AAA>AAG p.K54K RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.2_Silent_p.K54K|RBBP6_uc002dmi.2_Silent_p.K54K|RBBP6_uc010bxr.2_Silent_p.K54K NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 54 DWNN. protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) CGCAGACGAAAGAAGGTAAGG 0.517 OR1A1 8383 broad.mit.edu 37 17 3119210 3119210 + Missense_Mutation SNP C T T rs144175148 byFrequency TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr17:3119210C>T uc010vrc.1 + 1 296 c.296C>T c.(295-297)ACG>ATG p.T99M NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGATGCCTAACGCAGATGTAT 0.488 DNAH2 146754 broad.mit.edu 37 17 7679385 7679385 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr17:7679385G>A uc002giu.1 + 30 4879 c.4865G>A c.(4864-4866)CGG>CAG p.R1622Q NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1622 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GTGACCCTGCGGGACCTTCTC 0.627 MYO15A 51168 broad.mit.edu 37 17 18047889 18047889 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr17:18047889G>A uc010vxh.1 + 28 6594 c.6256G>A c.(6256-6258)GTG>ATG p.V2086M NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 2086 Tail.|MyTH4 1. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TGCAGAAGCCGTGAGCATCTT 0.607 GPR179 440435 broad.mit.edu 37 17 36484987 36484987 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr17:36484987C>T uc002hpz.2 - 11 4486 c.4465G>A c.(4465-4467)GGG>AGG p.G1489R NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1489 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ATTTCCTGCCCCATCACGTTA 0.512 PGAP3 93210 broad.mit.edu 37 17 37844120 37844120 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr17:37844120G>A uc002hsj.2 - 1 191 c.148C>T c.(148-150)CGC>TGC p.R50C ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010wej.1_Missense_Mutation_p.R50C|PGAP3_uc002hsk.2_Missense_Mutation_p.R50C|PGAP3_uc010cvz.2_Missense_Mutation_p.R50C|ERBB2_uc002hsl.2_5'Flank NM_033419 NP_219487 Q96FM1 PGAP3_HUMAN per1-like domain containing 1 precursor 50 Lumenal (Potential). GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds upper_aerodigestive_tract(1) 1 TGGCGGGAGCGGAAGTGATTC 0.657 CLTC 1213 broad.mit.edu 37 17 57746279 57746279 + Missense_Mutation SNP A G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr17:57746279A>G uc002ixq.1 + 14 2713 c.2270A>G c.(2269-2271)GAG>GGG p.E757G CLTC_uc002ixp.2_Missense_Mutation_p.E757G|CLTC_uc002ixr.1_Missense_Mutation_p.E761G NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 757 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TACGATCCTGAGCGAGTCAAG 0.398 T ALK|TFE3 ALCL|renal GAA 2548 broad.mit.edu 37 17 78082609 78082609 + Silent SNP G T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr17:78082609G>T uc002jxo.2 + 9 1490 c.1308G>T c.(1306-1308)CGG>CGT p.R436R GAA_uc002jxp.2_Silent_p.R436R|GAA_uc002jxq.2_Silent_p.R436R NM_001079803 NP_001073271 P10253 LYAG_HUMAN acid alpha-glucosidase preproprotein 436 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) AGGGCGGCCGGCGCTACATGA 0.642 CEP76 79959 broad.mit.edu 37 18 12699056 12699056 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr18:12699056G>A uc002kri.2 - 4 598 c.442C>T c.(442-444)CGT>TGT p.R148C PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR NM_024899 NP_079175 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 148 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding 0 GGTTTAGAACGAAAACGTTGG 0.373 MC5R 4161 broad.mit.edu 37 18 13826367 13826367 + Silent SNP G T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr18:13826367G>T uc010xaf.1 + 1 603 c.603G>T c.(601-603)CTG>CTT p.L201L NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 201 Helical; Name=5; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 TGTTCCTCCTGGTGTCTCTGT 0.587 POTEC 388468 broad.mit.edu 37 18 14542740 14542740 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr18:14542740G>A uc010dln.2 - 1 860 c.406C>T c.(406-408)CGT>TGT p.R136C POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 136 skin(3) 3 TCTTCTCGACGGACGTGGTAC 0.602 ATP8B1 5205 broad.mit.edu 37 18 55328473 55328473 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr18:55328473C>T uc002lgw.2 - 21 2640 c.2640G>A c.(2638-2640)GTG>GTA p.V880V uc002lgu.1_Intron|uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 880 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) TGTACCTCTTCACCAGGTCCA 0.582 Byler_disease TNFSF9 8744 broad.mit.edu 37 19 6535064 6535064 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr19:6535064C>T uc002mfh.2 + 3 790 c.752C>T c.(751-753)CCG>CTG p.P251L NM_003811 NP_003802 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, 251 Extracellular (Potential). apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1) 1 CTCCCTTCACCGAGGTCGGAA 0.637 MUC16 94025 broad.mit.edu 37 19 9068085 9068085 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr19:9068085G>A uc002mkp.2 - 3 19565 c.19361C>T c.(19360-19362)GCG>GTG p.A6454V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6456 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGTGATGTCGCCCTATGAGG 0.498 RFX1 5989 broad.mit.edu 37 19 14104590 14104591 + Frame_Shift_Ins INS - G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr19:14104590_14104591insG uc002mxv.2 - 2 337_338 c.65_66insC c.(64-66)CCGfs p.P22fs RFX1_uc010dzi.2_Frame_Shift_Ins_p.P22fs NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 22 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) gggcttgtggcggggcctgtgg 0.149 SLC25A42 284439 broad.mit.edu 37 19 19217127 19217127 + Missense_Mutation SNP A C C rs145774094 by1000genomes TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr19:19217127A>C uc002nlf.1 + 6 581 c.430A>C c.(430-432)ACA>CCA p.T144P SLC25A42_uc010xqn.1_Missense_Mutation_p.T196P NM_178526 NP_848621 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 144 Helical; Name=3; (Potential).|Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) GGCTGGAACGACAGCCGCTTC 0.642 MLL4 9757 broad.mit.edu 37 19 36219962 36219962 + Silent SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr19:36219962G>A uc010eei.2 + 22 4764 c.4764G>A c.(4762-4764)GGG>GGA p.G1588G NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1588 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCAAATACGGGGATGCAGACT 0.607 NLRP12 91662 broad.mit.edu 37 19 54314124 54314124 + Silent SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr19:54314124G>A uc002qch.3 - 3 1009 c.789C>T c.(787-789)AGC>AGT p.S263S NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.S263S|NLRP12_uc002qcj.3_Silent_p.S263S|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.S263S NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 263 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGTCTTGCATGCTGCATTCCG 0.567 THADA 63892 broad.mit.edu 37 2 43768396 43768396 + Missense_Mutation SNP T G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr2:43768396T>G uc002rsw.3 - 21 3518 c.3166A>C c.(3166-3168)AGT>CGT p.S1056R THADA_uc010far.2_Missense_Mutation_p.S325R|THADA_uc002rsx.3_Missense_Mutation_p.S1056R|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.S765R|THADA_uc010fat.1_Missense_Mutation_p.S203R|THADA_uc002rta.2_Missense_Mutation_p.S766R NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1056 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TCCTTCATACTTCTCCAACAA 0.418 SLC9A4 389015 broad.mit.edu 37 2 103095704 103095704 + Silent SNP C T T rs115868705 byFrequency TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr2:103095704C>T uc002tbz.3 + 2 1120 c.663C>T c.(661-663)AAC>AAT p.N221N NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 221 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CGCGCGTGAACGAGCAGCTCT 0.612 VIL1 7429 broad.mit.edu 37 2 219295468 219295468 + Missense_Mutation SNP G C C TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr2:219295468G>C uc002via.2 + 10 1034 c.969G>C c.(967-969)CAG>CAC p.Q323H VIL1_uc010zke.1_Missense_Mutation_p.Q12H|VIL1_uc002vib.2_Missense_Mutation_p.Q323H|VIL1_uc002vic.1_Missense_Mutation_p.Q323H NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 323 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGCCAAGCAGTACCCACCAA 0.557 JPH2 57158 broad.mit.edu 37 20 42788558 42788558 + Missense_Mutation SNP G C C TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr20:42788558G>C uc002xli.1 - 2 1742 c.869C>G c.(868-870)ACC>AGC p.T290S NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 290 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCCATGTAGGTCTCGGTGGT 0.701 CDH22 64405 broad.mit.edu 37 20 44828064 44828064 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr20:44828064G>A uc002xrm.2 - 7 1822 c.1421C>T c.(1420-1422)GCG>GTG p.A474V CDH22_uc010ghk.1_Missense_Mutation_p.A474V NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 474 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CAGCTCACCCGCCTCCATGGC 0.667 USP16 10600 broad.mit.edu 37 21 30409731 30409731 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr21:30409731G>A uc002ymy.2 + 6 785 c.583G>A c.(583-585)GTG>ATG p.V195M USP16_uc002ymx.2_Missense_Mutation_p.V194M|USP16_uc002ymw.2_Missense_Mutation_p.V195M|USP16_uc011acm.1_Missense_Mutation_p.V180M|USP16_uc011acn.1_Intron|USP16_uc011aco.1_5'Flank NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN ubiquitin specific protease 16 isoform a 195 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(2)|breast(1)|pancreas(1) 4 CCAAATAACCGTGAAAGGACT 0.348 FBLN1 2192 broad.mit.edu 37 22 45944523 45944524 + Frame_Shift_Ins INS - CCAC CCAC TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr22:45944523_45944524insCCAC uc003bgj.1 + 13 1619_1620 c.1472_1473insCCAC c.(1471-1473)GGCfs p.G491fs FBLN1_uc003bgg.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgh.2_Frame_Shift_Ins_p.G491fs|FBLN1_uc010gzz.2_Frame_Shift_Ins_p.G529fs|FBLN1_uc003bgi.1_Frame_Shift_Ins_p.G491fs NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 491 EGF-like 8; calcium-binding. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCCACCGGGGGCCACATCTGCT 0.644 TUBGCP6 85378 broad.mit.edu 37 22 50657589 50657589 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr22:50657589G>A uc003bkb.1 - 20 5046 c.4534C>T c.(4534-4536)CAC>TAC p.H1512Y TUBGCP6_uc003bka.1_Missense_Mutation_p.H599Y|TUBGCP6_uc010har.1_Missense_Mutation_p.H1504Y|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1512 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCCTCCAGGTGCAGCTCCACG 0.642 FGD5 152273 broad.mit.edu 37 3 14861427 14861427 + Silent SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr3:14861427G>A uc003bzc.2 + 1 959 c.849G>A c.(847-849)ACG>ACA p.T283T FGD5_uc011avk.1_Silent_p.T283T NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 283 Glu-rich. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 AAGAGGCCACGGGTGTCACAG 0.607 TRANK1 9881 broad.mit.edu 37 3 36874402 36874402 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr3:36874402C>T uc003cgj.2 - 12 5192 c.4890G>A c.(4888-4890)TCG>TCA p.S1630S NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2180 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 AGTTCATTTTCGACTGAACTA 0.378 ZNF167 55888 broad.mit.edu 37 3 44611913 44611913 + Missense_Mutation SNP A C C TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr3:44611913A>C uc010hin.2 + 6 1699 c.1311A>C c.(1309-1311)AAA>AAC p.K437N ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.K286N|ZNF167_uc003cnj.2_Missense_Mutation_p.K437N|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 437 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) CAGGGGAAAAACCCTATGAAT 0.473 AMT 275 broad.mit.edu 37 3 49455400 49455400 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr3:49455400C>T uc003cww.2 - 8 1013 c.884G>A c.(883-885)CGC>CAC p.R295H AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Missense_Mutation_p.R295H|AMT_uc011bco.1_Missense_Mutation_p.R251H|AMT_uc003cwy.2_Missense_Mutation_p.R247H|AMT_uc011bcp.1_Missense_Mutation_p.R198H|AMT_uc011bcq.1_Missense_Mutation_p.R239H NM_000481 NP_000472 P48728 GCST_HUMAN aminomethyltransferase isoform 1 precursor 295 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) AGCTCGGCGGCGCTTCCCTGG 0.582 CACNA1D 776 broad.mit.edu 37 3 53531323 53531323 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr3:53531323C>T uc003dgv.3 + 2 375 c.212C>T c.(211-213)ACC>ATC p.T71I CACNA1D_uc003dgu.3_Missense_Mutation_p.T71I|CACNA1D_uc003dgy.3_Missense_Mutation_p.T71I NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 71 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACTATGAGCACCTCTGCACCC 0.542 GCET2 257144 broad.mit.edu 37 3 111846908 111846908 + Silent SNP T C C TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr3:111846908T>C uc003dys.1 - 3 249 c.99A>G c.(97-99)AGA>AGG p.R33R C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_5'UTR NM_152785 NP_689998 Q8N6F7 GCET2_HUMAN germinal center expressed transcript 2 isoform 33 mitochondrion 0 GATCCCAGCATCTAAAATACC 0.408 SLC9A10 285335 broad.mit.edu 37 3 111898484 111898484 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr3:111898484G>A uc003dyu.2 - 23 3035 c.2813C>T c.(2812-2814)CCG>CTG p.P938L SLC9A10_uc011bhu.1_Missense_Mutation_p.P201L|SLC9A10_uc010hqc.2_Missense_Mutation_p.P890L NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 938 cNMP. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 GTCAATTATCGGAAAATCTTT 0.358 PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G A A rs121913287 TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr3:178916876G>A uc003fjk.2 + 2 420 c.263G>A c.(262-264)CGA>CAA p.R88Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(26) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363 R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) PIK3CA 5290 broad.mit.edu 37 3 178916936 178916936 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr3:178916936G>A uc003fjk.2 + 2 480 c.323G>A c.(322-324)CGT>CAT p.R108H NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 108 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R108H(5)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GTAGGCAACCGTGAAGAAAAG 0.338 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) MUC4 4585 broad.mit.edu 37 3 195484190 195484190 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr3:195484190G>A uc011bto.1 - 19 15072 c.14612C>T c.(14611-14613)ACG>ATG p.T4871M MUC4_uc003fuz.2_Missense_Mutation_p.T597M|MUC4_uc003fva.2_Missense_Mutation_p.T479M|MUC4_uc003fvb.2_Missense_Mutation_p.T515M|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.T515M|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.T479M|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.T563M|MUC4_uc011bti.1_Missense_Mutation_p.T563M|MUC4_uc011btj.1_Missense_Mutation_p.T740M|MUC4_uc011btk.1_Missense_Mutation_p.T479M|MUC4_uc011btl.1_Missense_Mutation_p.T508M|MUC4_uc011btm.1_Missense_Mutation_p.T688M|MUC4_uc011btn.1_Missense_Mutation_p.T479M|MUC4_uc003fvo.2_Missense_Mutation_p.T763M|MUC4_uc003fvp.2_Missense_Mutation_p.T712M NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1756 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CCACAGCAACGTCCCATTCTC 0.572 MFSD7 84179 broad.mit.edu 37 4 680077 680077 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr4:680077C>T uc003gay.2 - 3 366 c.309G>A c.(307-309)GCG>GCA p.A103A MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Silent_p.A103A|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Intron|MFSD7_uc003gbb.1_Silent_p.A39A NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 103 Helical; (Potential). transmembrane transport integral to membrane 0 AGTTCAGCCACGCACCCAGGA 0.652 KDR 3791 broad.mit.edu 37 4 55961059 55961059 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr4:55961059G>A uc003has.2 - 21 3183 c.2881C>T c.(2881-2883)CGG>TGG p.R961W KDR_uc003hat.1_Missense_Mutation_p.R961W NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 961 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TCCAAGCGCCGTTTCAGATCC 0.488 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) FBN2 2201 broad.mit.edu 37 5 127623046 127623046 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr5:127623046C>T uc003kuu.2 - 54 7273 c.6834G>A c.(6832-6834)ACG>ACA p.T2278T NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2278 EGF-like 38; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CAATCGGGCACGTGCATTCAT 0.483 WNT8A 7478 broad.mit.edu 37 5 137426568 137426568 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr5:137426568C>T uc003lcd.1 + 6 867 c.862C>T c.(862-864)CGT>TGT p.R288C BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.R306C|WNT8A_uc011cyk.1_Missense_Mutation_p.R306C NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 288 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GTGGGAGCGACGTAGCTGTGG 0.542 DND1 373863 broad.mit.edu 37 5 140052370 140052370 + Silent SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr5:140052370G>A uc003lgt.2 - 3 308 c.264C>T c.(262-264)CGC>CGT p.R88R NM_194249 NP_919225 Q8IYX4 DND1_HUMAN dead end homolog 1 88 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATCATCAGGCGGAACTCGT 0.667 GABRB2 2561 broad.mit.edu 37 5 160721276 160721276 + Missense_Mutation SNP A G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr5:160721276A>G uc003lys.1 - 11 1569 c.1351T>C c.(1351-1353)TTT>CTT p.F451L GABRB2_uc011deh.1_Missense_Mutation_p.F252L|GABRB2_uc003lyr.1_Missense_Mutation_p.F413L|GABRB2_uc003lyt.1_Missense_Mutation_p.F413L|GABRB2_uc010jiu.1_Missense_Mutation_p.F350L NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 451 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTTCGGCCAAAACTATGCCTG 0.527 NOP16 51491 broad.mit.edu 37 5 175811029 175811030 + Frame_Shift_Ins INS - C C TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr5:175811029_175811030insC uc003mee.2 - 5 651_652 c.651_652insG c.(649-654)GGGTTCfs p.G217fs NOP16_uc003med.2_Frame_Shift_Ins_p.G216fs Q9Y3C1 NOP16_HUMAN SubName: Full=NOP16 protein; SubName: Full=Putative uncharacterized protein HSPC111; Error:Variant_position_missing_in_Q9Y3C1_after_alignment nucleolus ovary(1)|central_nervous_system(1) 2 TTTTCCGTGAACCCCCAGATGA 0.436 ZNF451 26036 broad.mit.edu 37 6 57013164 57013164 + Missense_Mutation SNP A G G TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr6:57013164A>G uc003pdm.1 + 10 2505 c.2281A>G c.(2281-2283)ACA>GCA p.T761A ZNF451_uc003pdl.2_Missense_Mutation_p.T761A|ZNF451_uc003pdn.1_Missense_Mutation_p.T761A|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.T761A NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 761 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATGTTCGGCAACAGCACAGAA 0.408 C6orf221 154288 broad.mit.edu 37 6 74073368 74073368 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr6:74073368C>T uc003pgt.3 + 3 492 c.439C>T c.(439-441)CGT>TGT p.R147C NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN hypothetical protein LOC154288 147 skin(2) 2 CGGGACGCAGCGTTCGGTGGA 0.667 HEY2 23493 broad.mit.edu 37 6 126080280 126080280 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr6:126080280G>A uc003qad.2 + 5 537 c.346G>A c.(346-348)GCT>ACT p.A116T HEY2_uc011ebr.1_Missense_Mutation_p.A70T NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 116 Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) TGACGCACACGCTCTTGCCAT 0.522 CALCR 799 broad.mit.edu 37 7 93072970 93072970 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr7:93072970C>T uc003umv.1 - 10 1111 c.850G>A c.(850-852)GTG>ATG p.V284M CALCR_uc011kia.1_Missense_Mutation_p.V64M|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.V250M|CALCR_uc003umw.2_Missense_Mutation_p.V250M NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 266 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) AACACAGCCACGACAATGAGT 0.448 JHDM1D 80853 broad.mit.edu 37 7 139833358 139833358 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr7:139833358G>A uc003vvm.2 - 3 383 c.379C>T c.(379-381)CGC>TGC p.R127C NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 127 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) ACTCGAGAGCGTAATTCCTTA 0.378 EPHB6 2051 broad.mit.edu 37 7 142568575 142568575 + Missense_Mutation SNP T A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr7:142568575T>A uc011kst.1 + 20 3771 c.2984T>A c.(2983-2985)CTG>CAG p.L995Q EPHB6_uc011ksu.1_Missense_Mutation_p.L995Q|EPHB6_uc003wbs.2_Missense_Mutation_p.L703Q|EPHB6_uc003wbt.2_Missense_Mutation_p.L469Q|EPHB6_uc003wbu.2_Missense_Mutation_p.L703Q|EPHB6_uc003wbv.2_Missense_Mutation_p.L379Q NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 995 SAM.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) GGCATCACCCTGGCTGGCCAC 0.617 KEL 3792 broad.mit.edu 37 7 142638355 142638355 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr7:142638355C>T uc003wcb.2 - 19 2393 c.2183G>A c.(2182-2184)CGC>CAC p.R728H NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 728 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) GAGCTGGCAGCGGCTGGAGGG 0.567 XKR6 286046 broad.mit.edu 37 8 11058779 11058779 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr8:11058779C>T uc003wtk.1 - 1 97 c.70G>A c.(70-72)GTG>ATG p.V24M NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 24 Gly-rich. integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CCGCTGCCCACCGCCTCGTCC 0.552 TMEM215 401498 broad.mit.edu 37 9 32784817 32784817 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr9:32784817C>T uc003zri.3 + 2 1001 c.636C>T c.(634-636)AAC>AAT p.N212N NM_212558 NP_997723 Q68D42 TM215_HUMAN transmembrane protein 215 212 integral to membrane 0 ACAAGCAGAACAGCCCGTATG 0.493 CCIN 881 broad.mit.edu 37 9 36170861 36170861 + Silent SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr9:36170861C>T uc003zzb.3 + 1 1473 c.1362C>T c.(1360-1362)GAC>GAT p.D454D NM_005893 NP_005884 Q13939 CALI_HUMAN calicin 454 Kelch 4. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton ovary(1)|skin(1) 2 STAD - Stomach adenocarcinoma(86;0.228) GCACTGGGGACGTGGTCCAGT 0.557 FOXB2 442425 broad.mit.edu 37 9 79634932 79634932 + Missense_Mutation SNP C T T TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr9:79634932C>T uc004ako.1 + 1 362 c.362C>T c.(361-363)GCG>GTG p.A121V NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 121 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CACTTGCACGCGGGAAGCACC 0.507 ZNF618 114991 broad.mit.edu 37 9 116731434 116731434 + Missense_Mutation SNP C T T rs143368881 by1000genomes TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr9:116731434C>T uc004bid.2 + 2 170 c.71C>T c.(70-72)GCG>GTG p.A24V ZNF618_uc004bib.1_Missense_Mutation_p.A24V|ZNF618_uc004bic.2_Missense_Mutation_p.A24V|ZNF618_uc011lxi.1_Missense_Mutation_p.A24V|ZNF618_uc011lxj.1_Missense_Mutation_p.A24V NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAAGCACTGCGAGCAGGTAC 0.557 DBH 1621 broad.mit.edu 37 9 136517375 136517375 + Missense_Mutation SNP G A A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr9:136517375G>A uc004cel.2 + 8 1352 c.1343G>A c.(1342-1344)CGC>CAC p.R448H NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 448 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CAGGAGATCCGCATGTTGAAG 0.672 SLC34A3 142680 broad.mit.edu 37 9 140127306 140127306 + Silent SNP C T T rs142873841 byFrequency TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chr9:140127306C>T uc004cmf.1 + 5 561 c.375C>T c.(373-375)GGC>GGT p.G125G SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc004cmd.1_Silent_p.G125G|SLC34A3_uc011met.1_Silent_p.G125G NM_080877 NP_543153 Q8N130 NPT2C_HUMAN solute carrier family 34 (sodium phosphate), 125 Helical; Name=M2; (Potential). cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TGGTCATTGGCGTGCTGGTCA 0.617 F9 2158 broad.mit.edu 37 X 138643736 138643736 + Nonsense_Mutation SNP C T T rs137852250 TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 891fc6bc-d0a7-4064-842c-43d500b4ef5d 0961643d-a43d-493f-a3aa-d3dfdef330ed g.chrX:138643736C>T uc004fas.1 + 8 921 c.892C>T c.(892-894)CGA>TGA p.R298* F9_uc004fat.1_Nonsense_Mutation_p.R260* NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 298 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AAATGTGATTCGAATTATTCC 0.353