Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ACTR3C 653857 broad.mit.edu 37 7 149981866 149981866 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:149981866G>A ENST00000539352.1 - 6 791 c.540C>T c.(538-540)atC>atT p.I180I ACTR3C_ENST00000252071.4_Silent_p.I180I NM_001164458.1 NP_001157930.1 Q9C0K3 ARP3C_HUMAN ARP3 actin-related protein 3 homolog C (yeast) 180 regulation of actin filament polymerization cytoskeleton actin binding|ATP binding GCCGCACATCGATGGGGCAGT 0.398000 4 20 0 0 1 0 0 STX10 8677 broad.mit.edu 37 19 13260628 13260628 + Missense_Mutation SNP C C A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:13260628C>A ENST00000589083.1 - 2 171 c.119G>T c.(118-120)cGc>cTc p.R40L STX10_ENST00000242770.5_Missense_Mutation_p.R40L|STX10_ENST00000587230.1_Missense_Mutation_p.R40L|STX10_ENST00000343587.5_Missense_Mutation_p.R40L NM_001271610.1 NP_001258539.1 O60499 STX10_HUMAN syntaxin 10 40 Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane SNAP receptor activity breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) CAGCTCCTCGCGTCCGACCGC 0.672000 OREG0025290 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 18 0.0381472 0.0384894 1 1 0 TAF6 6878 broad.mit.edu 37 7 99705619 99705619 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:99705619G>A ENST00000344095.4 - 14 2111 c.1586C>T c.(1585-1587)cCa>cTa p.P529L TAF6_ENST00000452041.1_Missense_Mutation_p.P529L|TAF6_ENST00000453269.2_Missense_Mutation_p.P529L|TAF6_ENST00000418432.2_Missense_Mutation_p.P453L|TAF6_ENST00000472509.1_Missense_Mutation_p.P586L|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000437822.2_Missense_Mutation_p.P566L NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 529 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGAAGGCTGTGGTGGGGCAGC 0.617000 6 20 0 0 1 0 0 SF1 7536 broad.mit.edu 37 11 64540963 64540963 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:64540963C>G ENST00000377390.3 - 3 512 c.175G>C c.(175-177)Gaa>Caa p.E59Q SF1_ENST00000334944.5_Missense_Mutation_p.E59Q|SF1_ENST00000433274.2_Missense_Mutation_p.E33Q|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Missense_Mutation_p.E184Q|SF1_ENST00000377394.3_Missense_Mutation_p.E59Q|SF1_ENST00000227503.9_Missense_Mutation_p.E59Q NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 59 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 GTCAGGTCTTCTATCTGCAGT 0.438000 13 22 0 0 1 0 0 COQ6 51004 broad.mit.edu 37 14 74422193 74422193 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr14:74422193G>C ENST00000334571.2 + 3 378 c.338G>C c.(337-339)aGa>aCa p.R113T COQ6_ENST00000238709.4_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.R88T|COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000554920.1_Missense_Mutation_p.R113T NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 113 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) ATGAGATACAGAGCCTTTCGG 0.463000 17 25 0 0 1 0 0 PRDM4 11108 broad.mit.edu 37 12 108128285 108128285 + Missense_Mutation SNP T T C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:108128285T>C ENST00000228437.5 - 12 2567 c.2108A>G c.(2107-2109)aAg>aGg p.K703R NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 703 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 CTTGGGACACTTGATCTGGCG 0.383000 96 168 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 100 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122614580 122614580 + Silent SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:122614580C>T ENST00000319080.7 + 6 963 c.831C>T c.(829-831)ctC>ctT p.L277L Q9HAP2 MLXIP_HUMAN MLX interacting protein Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CAGACATGCTCATGTCGGAAT 0.572000 4 44 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186136070 186136070 + Silent SNP T T C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:186136070T>C ENST00000271588.4 + 100 15799 c.15570T>C c.(15568-15570)tgT>tgC p.C5190C HMCN1_ENST00000367492.2_Silent_p.C5190C NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5190 EGF-like 2; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGCTGAGTTGTCAAGGTATAA 0.453000 29 74 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724205 140724205 + Missense_Mutation SNP G G T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr5:140724205G>T ENST00000253812.6 + 1 605 c.605G>T c.(604-606)cGt>cTt p.R202L PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.R202H(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTGGACCGTGAGAAAAAA 0.537000 20 32 3.51602e-12 3.73162e-12 1 1 0 KIRREL 55243 broad.mit.edu 37 1 158047906 158047906 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:158047906C>T ENST00000368173.3 + 3 732 c.328C>T c.(328-330)Cgg>Tgg p.R110W KIRREL_ENST00000392272.2_Missense_Mutation_p.R110W|KIRREL_ENST00000359209.6_Missense_Mutation_p.R110W|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Missense_Mutation_p.R49W NM_018240.5 NP_060710.3 Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 110 Ig-like C2-type 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) CCTGCGCTCTCGGCGGGCCAA 0.607000 26 86 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44197526 44197526 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:44197526G>A ENST00000393841.1 + 5 803 c.312G>A c.(310-312)caG>caA p.Q104Q SLC29A1_ENST00000371713.1_Silent_p.Q104Q|SLC29A1_ENST00000371731.1_Silent_p.Q104Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000393844.1_Silent_p.Q104Q|SLC29A1_ENST00000371740.5_Silent_p.Q104Q|SLC29A1_ENST00000313248.7_Silent_p.Q183Q|SLC29A1_ENST00000371755.3_Silent_p.Q104Q|SLC29A1_ENST00000371724.1_Silent_p.Q104Q|SLC29A1_ENST00000371708.1_Silent_p.Q104Q|SLC29A1_ENST00000427851.2_Silent_p.Q104Q NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 104 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) TCCTGCATCAGAGGTGAGTGC 0.597000 11 27 0 0 1 0 0 MBOAT2 129642 broad.mit.edu 37 2 9000768 9000768 + Missense_Mutation SNP T T C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:9000768T>C ENST00000305997.3 - 12 1510 c.1312A>G c.(1312-1314)Ata>Gta p.I438V NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 438 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GATGGTTTTATAGAAAGAAGC 0.323000 13 53 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49433394 49433394 + Nonsense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:49433394G>A ENST00000301067.7 - 32 8052 c.8053C>T c.(8053-8055)Cga>Tga p.R2685* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.R2415*(2)|p.R2685*(2) TCTCGTAGTCGCTGGCGCTAT 0.572000 3 9 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 62 0 0 1 0 0 C2orf76 130355 broad.mit.edu 37 2 120097412 120097412 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:120097412G>A ENST00000409466.2 - 3 645 c.124C>T c.(124-126)Cta>Tta p.L42L C2orf76_ENST00000409523.1_Silent_p.L42L|C2orf76_ENST00000409877.1_Silent_p.L42L|C2orf76_ENST00000498049.1_5'UTR|C2orf76_ENST00000334816.7_Silent_p.L42L Q3KRA6 CB076_HUMAN chromosome 2 open reading frame 76 42 large_intestine(1)|lung(3)|pancreas(1) 5 CCTTGCTTTAGAAATACGATA 0.333000 10 46 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57529629 57529629 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:57529629G>A ENST00000420713.1 + 4 1574 c.1462G>A c.(1462-1464)Gga>Aga p.G488R NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TATGCATACTGGAGAGAAACC 0.348000 3 19 0 0 1 0 0 CDCA3 83461 broad.mit.edu 37 12 6958797 6958797 + Missense_Mutation SNP G G T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:6958797G>T ENST00000422785.3 - 4 580 c.476C>A c.(475-477)aCa>aAa p.T159K CDCA3_ENST00000229265.6_Missense_Mutation_p.T134K|CDCA3_ENST00000540683.1_Missense_Mutation_p.T159K|CDCA3_ENST00000535406.1_Missense_Mutation_p.T159K|CDCA3_ENST00000538862.2_Missense_Mutation_p.T159K Q99618 CDCA3_HUMAN cell division cycle associated 3 159 cell division|mitosis cytosol breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1) 8 AGGGGTTTCTGTGGGCTGTCT 0.537000 80 54 1.43161e-34 1.57128e-34 1 1 0 PREX1 57580 broad.mit.edu 37 20 47267544 47267544 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr20:47267544C>T ENST00000396220.1 - 23 2727 c.2705G>A c.(2704-2706)aGg>aAg p.R902K PREX1_ENST00000371941.3_Missense_Mutation_p.R902K Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 902 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CATGAGCCGCCTGCAGTTCTC 0.562000 20 72 0 0 1 0 0 MYLK4 340156 broad.mit.edu 37 6 2678483 2678483 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:2678483G>A ENST00000274643.7 - 10 1353 c.1011C>T c.(1009-1011)ttC>ttT p.F337F MYLK4_ENST00000268446.5_Silent_p.F337F NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 337 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) GCTTAGAGATGAACTCCTTGG 0.532000 29 109 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776757 77776757 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr8:77776757G>C ENST00000521891.2 + 11 11255 c.10807G>C c.(10807-10809)Gat>Cat p.D3603H ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3554H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3577H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3558H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3554 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTCTGGCCTAGATGGTAATTT 0.373000 HNSCC(33;0.089) 7 18 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35229738 35229738 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:35229738C>G ENST00000428726.2 + 12 1624 c.1501C>G c.(1501-1503)Ctt>Gtt p.L501V CD44_ENST00000415148.2_Missense_Mutation_p.L458V|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Missense_Mutation_p.L252V|CD44_ENST00000263398.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.L501V|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.L458V|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Missense_Mutation_p.L252V|CD44_ENST00000433354.2_Missense_Mutation_p.L502V|CD44_ENST00000352818.4_Intron NM_000610.3 NP_000601.3 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 501 Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) GACAGGACCTCTTTCAATGAC 0.433000 22 62 0 0 1 0 0 INSIG1 3638 broad.mit.edu 37 7 155094081 155094081 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:155094081C>G ENST00000340368.4 + 4 869 c.658C>G c.(658-660)Cta>Gta p.L220V INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Missense_Mutation_p.L68V NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 220 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding p.L220V(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATAGCTTTTCTAGCTACGCT 0.438000 9 55 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039397 11039397 + RNA SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr21:11039397C>T ENST00000470054.1 - 0 806 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTATCAGCCTCATTAGAAATC 0.303000 14 162 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55441913 55441913 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:55441913G>A ENST00000588756.1 - 11 3250 c.2764C>T c.(2764-2766)Ctc>Ttc p.L922F NLRP7_ENST00000340844.2_Missense_Mutation_p.L922F|NLRP7_ENST00000328092.5_Missense_Mutation_p.L894F|NLRP7_ENST00000448121.2_Missense_Mutation_p.L894F|NLRP7_ENST00000590030.1_Missense_Mutation_p.L922F|NLRP7_ENST00000446217.1_Missense_Mutation_p.L950F|NLRP7_ENST00000592784.1_Missense_Mutation_p.L922F Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 922 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCCTGACAGAGAATCCACAAT 0.448000 57 139 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 19 6.4e-05 6.54545e-05 1 1 0 ANKDD1A 348094 broad.mit.edu 37 15 65208072 65208072 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr15:65208072G>A ENST00000380230.3 + 2 140 c.111G>A c.(109-111)agG>agA p.R37R ANKDD1A_ENST00000496660.1_Intron|ANKDD1A_ENST00000395720.1_Silent_p.R37R|ANKDD1A_ENST00000319580.8_Intron|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000357698.3_Silent_p.R37R|ANKDD1A_ENST00000491145.1_3'UTR NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 37 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 TGATTGGGAGGAGGGTTAACA 0.572000 3 27 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103898488 103898488 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr10:103898488C>T ENST00000278070.2 + 3 494 c.455C>T c.(454-456)tCg>tTg p.S152L PPRC1_ENST00000413464.2_Missense_Mutation_p.S152L NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ATTCCTGATTCGGAGCTGCTT 0.532000 13 57 0 0 1 0 0 RNF182 221687 broad.mit.edu 37 6 13977520 13977520 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:13977520C>T ENST00000488300.1 + 3 693 c.170C>T c.(169-171)tCc>tTc p.S57F RNF182_ENST00000537663.1_Missense_Mutation_p.S57F|RNF182_ENST00000544682.1_Missense_Mutation_p.S57F|RNF182_ENST00000537388.1_Missense_Mutation_p.S57F NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 57 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) TTTGGGGACTCCCCACAAGGT 0.463000 13 73 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34256478 34256478 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr9:34256478C>G ENST00000379166.2 - 11 3246 c.3127G>C c.(3127-3129)Gaa>Caa p.E1043Q KIF24_ENST00000345050.2_Missense_Mutation_p.E909Q|KIF24_ENST00000379174.3_Missense_Mutation_p.E909Q|KIF24_ENST00000402558.2_Missense_Mutation_p.E1043Q NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 1043 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) GAAGCATATTCAGCATGCGTG 0.582000 29 25 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200017327 200017327 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:200017327G>A ENST00000367362.3 + 5 737 c.491G>A c.(490-492)gGa>gAa p.G164E NR5A2_ENST00000544748.1_Missense_Mutation_p.G92E|NR5A2_ENST00000236914.3_Missense_Mutation_p.G118E NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 164 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 cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) ATGCGTGGAGGAAGGAATAAG 0.483000 11 64 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135797295 135797295 + Missense_Mutation SNP A A G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr9:135797295A>G ENST00000298552.3 - 7 795 c.574T>C c.(574-576)Tat>Cat p.Y192H TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.Y192H|TSC1_ENST00000545250.1_Missense_Mutation_p.Y141H|TSC1_ENST00000403810.1_Missense_Mutation_p.Y192H NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 192 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TACATTCCATAAAGGCGATGA 0.448000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 32 33 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67703780 67703780 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:67703780G>C ENST00000545606.1 + 12 3562 c.3125G>C c.(3124-3126)aGg>aCg p.R1042T NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 1042 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TCATTAATAAGGGATCTATTG 0.358000 13 63 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 4 92 0 0 1 0 0 SLC37A3 84255 broad.mit.edu 37 7 140080134 140080134 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:140080134G>A ENST00000326232.9 - 3 349 c.146C>T c.(145-147)tCt>tTt p.S49F SLC37A3_ENST00000447932.2_Missense_Mutation_p.S49F|SLC37A3_ENST00000429996.2_Missense_Mutation_p.S49F|SLC37A3_ENST00000461089.1_Intron|SLC37A3_ENST00000340308.3_Missense_Mutation_p.S49F NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 49 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) CCACTGCTCAGAGATACTGAC 0.443000 9 28 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372750 74372750 + RNA SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:74372750G>C ENST00000429810.2 - 0 1446 CTGCCTACCGGTCTGGAAGTC 0.498000 12 61 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710947 140710947 + Silent SNP G G T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr5:140710947G>T ENST00000517417.1 + 1 696 c.696G>T c.(694-696)gtG>gtT p.V232V PCDHGA1_ENST00000378105.3_Silent_p.V232V NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACATTCAGGTGGTGGATGCAA 0.493000 10 32 1.58986e-06 1.66381e-06 1 1 0 TSR1 55720 broad.mit.edu 37 17 2239710 2239710 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:2239710G>C ENST00000301364.5 - 1 1091 c.12C>G c.(10-12)caC>caG p.H4Q TSR1_ENST00000576112.2_Missense_Mutation_p.H4Q NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 GGCCGGGGCGGTGGGCCGCCA 0.677000 46 65 0 0 1 0 0 MAPRE2 10982 broad.mit.edu 37 18 32682099 32682099 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr18:32682099C>T ENST00000436190.2 + 5 824 c.550C>T c.(550-552)Cac>Tac p.H184Y MAPRE2_ENST00000300249.5_Missense_Mutation_p.H196Y|MAPRE2_ENST00000538170.2_Missense_Mutation_p.H143Y|MAPRE2_ENST00000589699.1_Missense_Mutation_p.H153Y|MAPRE2_ENST00000413393.1_Missense_Mutation_p.H153Y|MAPRE2_ENST00000588910.1_Missense_Mutation_p.H196Y NM_001143827.2 NP_001137299.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 196 cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 AAAAAAGTCTCACCATGCAAA 0.478000 15 19 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187005842 187005842 + Missense_Mutation SNP C C A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr4:187005842C>A ENST00000296795.3 + 5 2634 c.2530C>A c.(2530-2532)Ctg>Atg p.L844M TLR3_ENST00000504367.1_Missense_Mutation_p.L567M NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 TIR. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-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;0.0066)|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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TGAACAAAATCTGGATTCCAT 0.333000 20 41 1.55795e-14 1.67721e-14 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 42048050 42048050 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:42048050C>T ENST00000372584.1 - 3 3433 c.2419G>A c.(2419-2421)Gag>Aag p.E807K HIVEP3_ENST00000247584.5_Missense_Mutation_p.E807K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E807K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E807K NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 807 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TCAGATTTCTCAAAGGAGCTG 0.567000 11 40 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160289395 160289395 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:160289395G>C ENST00000392783.2 - 9 2268 c.1773C>G c.(1771-1773)ttC>ttG p.F591L BAZ2B_ENST00000392782.1_Missense_Mutation_p.F589L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.F589L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.F591L NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CTGTTCCTCTGAATTGTTCCA 0.388000 18 106 0 0 1 0 0 TMEM207 131920 broad.mit.edu 37 3 190167578 190167578 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr3:190167578G>C ENST00000354905.2 - 1 87 c.21C>G c.(19-21)ttC>ttG p.F7L NM_207316.1 NP_997199.1 Q6UWW9 TM207_HUMAN transmembrane protein 207 7 integral to membrane endometrium(1)|large_intestine(2)|lung(4) 7 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.0176) AGGTGACACTGAAAAGTCTGG 0.418000 21 24 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205022373 205022373 + Silent SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:205022373C>G ENST00000331830.4 + 2 344 c.60C>G c.(58-60)gtC>gtG p.V20V NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 20 axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGGCCCTTGTCTCCTCTTCAG 0.537000 22 44 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74519764 74519764 + Nonsense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:74519764G>A ENST00000422840.2 - 9 1500 c.1501C>T c.(1501-1503)Cga>Tga p.R501* GLG1_ENST00000205061.5_Nonsense_Mutation_p.R501*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.R490* NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 501 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 TTCAAAGCTCGATCAATGCGG 0.388000 88 64 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41704736 41704736 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:41704736G>A ENST00000310054.4 + 5 993 c.777G>A c.(775-777)ctG>ctA p.L259L CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 259 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 AGGGGAACCTGGATGCTTCGG 0.652000 19 36 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104871090 104871090 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:104871090C>T ENST00000393141.2 - 6 920 c.889G>A c.(889-891)Gat>Aat p.D297N CASP5_ENST00000260315.3_Missense_Mutation_p.D284N|CASP5_ENST00000531367.1_Missense_Mutation_p.D142N|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Missense_Mutation_p.D142N|CASP5_ENST00000444749.2_Missense_Mutation_p.D226N|CASP5_ENST00000526056.1_Missense_Mutation_p.D297N NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 284 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AGCAGCACATCCGGTTTTTTC 0.488000 38 64 0 0 1 0 0 TMEM55B 90809 broad.mit.edu 37 14 20927799 20927799 + Silent SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr14:20927799C>T ENST00000250489.4 - 4 820 c.534G>A c.(532-534)aaG>aaA p.K178K TMEM55B_ENST00000554028.1_Silent_p.K11K|TMEM55B_ENST00000398020.4_Silent_p.K185K Q86T03 TM55B_HUMAN transmembrane protein 55B 178 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) GAAAAGTATTCTTGCAATGTC 0.478000 13 54 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133780796 133780796 + Silent SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr9:133780796G>C ENST00000372338.4 - 6 1193 c.951C>G c.(949-951)ctC>ctG p.L317L FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.L317L|FIBCD1_ENST00000372337.2_Silent_p.L159L NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 317 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GGATCCTCTTGAGCCCTGAAG 0.587000 3 5 0 0 1 0 0 IWS1 55677 broad.mit.edu 37 2 128263003 128263003 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:128263003G>A ENST00000295321.4 - 3 735 c.476C>T c.(475-477)tCt>tTt p.S159F IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.S166F|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 159 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CTCAATCTCAGAATCACTGGC 0.463000 45 101 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11833358 11833358 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:11833358C>T ENST00000262442.4 + 63 12121 c.12053C>T c.(12052-12054)cCc>cTc p.P4018L DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000608377.1_Missense_Mutation_p.P330L|DNAH9_ENST00000396001.2_3'UTR NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACCAATGAGCCCCCCACGGGC 0.597000 4 13 0 0 1 0 0 MEX3D 399664 broad.mit.edu 37 19 1556581 1556581 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:1556581C>T ENST00000402693.4 - 2 936 c.937G>A c.(937-939)Gac>Aac p.D313N MEX3D_ENST00000388824.6_Missense_Mutation_p.D313N NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 313 KH 2. mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTCCTTGTCGCGCCCGGGC 0.701000 9 20 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152190966 152190966 + Missense_Mutation SNP A A T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:152190966A>T ENST00000368801.2 - 3 3214 c.3139T>A c.(3139-3141)Tct>Act p.S1047T FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1047 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGCCAGAAGAGTGACCGGAG 0.572000 5 226 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99440302 99440302 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr8:99440302C>T ENST00000287042.4 + 2 445 c.95C>T c.(94-96)tCg>tTg p.S32L KCNS2_ENST00000521839.1_Missense_Mutation_p.S32L NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 32 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) AGGCTGCGCTCGCACACGCTG 0.662000 5 19 0 0 1 0 0 C8orf86 389649 broad.mit.edu 37 8 38373954 38373954 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr8:38373954G>A ENST00000358138.1 - 2 416 c.392C>T c.(391-393)tCt>tTt p.S131F C8orf86_ENST00000437935.2_Intron NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 131 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 GGAAGAATGAGAGATCACTGT 0.408000 22 129 0 0 1 0 0 MS4A3 932 broad.mit.edu 37 11 59828646 59828646 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:59828646G>A ENST00000278865.3 + 2 86 c.13G>A c.(13-15)Gaa>Aaa p.E5K MS4A3_ENST00000358152.2_Missense_Mutation_p.E5K|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Missense_Mutation_p.E5K|MS4A3_ENST00000526199.1_3'UTR NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 5 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) GGCCTCCCACGAAGTTGATAA 0.483000 12 45 0 0 1 0 0 KHK 3795 broad.mit.edu 37 2 27317761 27317761 + Silent SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:27317761C>T ENST00000260598.5 + 3 781 c.303C>T c.(301-303)atC>atT p.I101I KHK_ENST00000260599.6_Intron|KHK_ENST00000490823.1_Intron NM_006488.2 NP_006479.1 P50053 KHK_HUMAN ketohexokinase (fructokinase) 101 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGCATCATCAACAACTCCA 0.617000 7 20 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31038924 31038924 + Nonsense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:31038924C>T ENST00000355537.3 + 4 2545 c.2398C>T c.(2398-2400)Cga>Tga p.R800* NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 800 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCACTTAGAGCGACACCATCG 0.502000 26 62 0 0 1 0 0 DPM1 8813 broad.mit.edu 37 20 49574904 49574904 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr20:49574904C>G ENST00000371582.4 - 1 188 c.157G>C c.(157-159)Gag>Cag p.E53Q DPM1_ENST00000371588.5_Missense_Mutation_p.E53Q|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Missense_Mutation_p.E53Q O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 53 C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 7 CGCTACCTCTCGGAGAAGCTT 0.617000 11 39 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22925812 22925812 + Silent SNP G G A rs34148834 byFrequency TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr15:22925812G>A ENST00000313077.7 + 2 155 c.30G>A c.(28-30)gcG>gcA p.A10A CYFIP1_ENST00000560848.1_Silent_p.A10A NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 10 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TGGAGGACGCGCTGTCCAACG 0.652000 9 37 0 0 1 0 0 SMARCD1 6602 broad.mit.edu 37 12 50492581 50492581 + Nonsense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:50492581C>T ENST00000394963.4 + 12 1875 c.1477C>T c.(1477-1479)Cga>Tga p.R493* SMARCD1_ENST00000381513.4_Nonsense_Mutation_p.R452*|SMARCD1_ENST00000548573.1_Nonsense_Mutation_p.R291* NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 493 Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity p.R454*(1) NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 GGCTGTGTGCCGATACTTCTA 0.547000 10 37 0 0 1 0 0 YPEL3 83719 broad.mit.edu 37 16 30106200 30106200 + Silent SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:30106200C>T ENST00000562641.1 - 3 823 c.294G>A c.(292-294)ggG>ggA p.G98G YPEL3_ENST00000566595.1_Silent_p.G60G|YPEL3_ENST00000563788.1_Silent_p.G60G|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000566134.1_Intron|YPEL3_ENST00000398838.4_Silent_p.G60G|YPEL3_ENST00000398841.1_Silent_p.G98G P61236 YPEL3_HUMAN yippee-like 3 (Drosophila) 60 nucleolus endometrium(1)|lung(2) 3 CCTCGGCTGGCCCGCAGCCCA 0.632000 3 59 0 0 1 0 0 BTRC 8945 broad.mit.edu 37 10 103190166 103190166 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr10:103190166G>A ENST00000370187.3 + 2 231 c.113G>A c.(112-114)cGa>cAa p.R38Q BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.R23Q NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 38 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CCTTCGCTGCGATGCCTGTAT 0.532000 15 35 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846908 123846908 + Silent SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr10:123846908G>C ENST00000369005.1 + 4 5233 c.4893G>C c.(4891-4893)acG>acC p.T1631T TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.T1631T|TACC2_ENST00000515603.1_Silent_p.T1631T|TACC2_ENST00000515273.1_Silent_p.T1631T|TACC2_ENST00000453444.2_Silent_p.T1631T NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1631 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CAAGGTCCACGTGTGCCCCTT 0.592000 11 33 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154278781 154278781 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr5:154278781C>G ENST00000285873.7 - 22 3179 c.3104G>C c.(3103-3105)aGa>aCa p.R1035T NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1035 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTGGCCATCTCTTTCTAGGAC 0.557000 19 71 0 0 1 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512939 68512939 + Silent SNP C C A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:68512939C>A ENST00000370981.1 - 4 678 c.42G>T c.(40-42)ctG>ctT p.L14L GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.L14L|GNG12-AS1_ENST00000420587.1_RNA O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 14 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCAACCGCTTCAGCAGCTTCT 0.597000 7 13 8.12818e-05 8.2753e-05 1 1 0 ALMS1 7840 broad.mit.edu 37 2 73678881 73678881 + Nonsense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:73678881C>T ENST00000264448.6 + 8 5335 c.5224C>T c.(5224-5226)Caa>Taa p.Q1742* ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q1742*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q1700* NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1742 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.Q1742*(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AGCTGTTCCTCAACCAGCTGA 0.428000 25 111 0 0 1 0 0 OR10H1 26539 broad.mit.edu 37 19 15918298 15918298 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:15918298G>A ENST00000334920.2 - 1 638 c.550C>T c.(550-552)Ctg>Ttg p.L184L NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 AACTTCAACAGAGGTGGCACA 0.572000 32 67 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461589 11461589 + Missense_Mutation SNP A A G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:11461589A>G ENST00000279575.1 - 3 361 c.328T>C c.(328-330)Tcc>Ccc p.S110P PRB4_ENST00000445719.2_Missense_Mutation_p.S110P|PRB4_ENST00000535904.1_Missense_Mutation_p.S110P NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 152 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GTACCTTGGGACTGGTTTCCT 0.602000 HNSCC(22;0.051) 7 246 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126242170 126242170 + Missense_Mutation SNP T T G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr4:126242170T>G ENST00000394329.3 + 1 4617 c.4604T>G c.(4603-4605)cTt>cGt p.L1535R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1535 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAAAACGCCCTTGCTGCAGAC 0.438000 28 115 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113376606 113376606 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr3:113376606G>C ENST00000316407.4 - 7 4333 c.3923C>G c.(3922-3924)cCa>cGa p.P1308R KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1308R NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1308 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 CTGTGAATTTGGTATGGTACT 0.443000 12 89 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2140152 2140152 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:2140152G>C ENST00000262304.4 - 46 12696 c.12488C>G c.(12487-12489)tCt>tGt p.S4163C PKD1_ENST00000423118.1_Missense_Mutation_p.S4162C NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4163 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GGAGGAGCGAGAGGGCAGCGG 0.697000 12 33 0 0 1 0 0 NUDT16 131870 broad.mit.edu 37 3 131100998 131100998 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr3:131100998G>A ENST00000359850.3 + 2 287 c.148G>A c.(148-150)Gaa>Aaa p.E50K NUDT16_ENST00000521288.1_Missense_Mutation_p.E83K|NUDT16_ENST00000502852.1_Missense_Mutation_p.E83K|NUDT16_ENST00000537561.1_Missense_Mutation_p.E37K NM_152395.2 NP_689608.2 Q96DE0 NUD16_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 16 83 Nudix hydrolase. nucleolus|nucleoplasm hydrolase activity|metal ion binding|RNA binding large_intestine(1)|lung(6) 7 GGAGCTGGGCGAAGCGGCTGC 0.677000 10 29 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171482214 171482214 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:171482214C>G ENST00000367742.3 + 3 435 c.193C>G c.(193-195)Ctt>Gtt p.L65V PRRC2C_ENST00000338920.4_Missense_Mutation_p.L63V|PRRC2C_ENST00000426496.2_Missense_Mutation_p.L63V|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Missense_Mutation_p.L65V Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 63 protein C-terminus binding CCTCCCAAGTCTTAAAGCAGA 0.418000 11 30 0 0 1 0 0 NXPE3 91775 broad.mit.edu 37 3 101520629 101520629 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr3:101520629G>A ENST00000422132.1 + 2 841 c.644G>A c.(643-645)cGt>cAt p.R215H NXPE3_ENST00000491511.2_Missense_Mutation_p.R215H|NXPE3_ENST00000273347.5_Missense_Mutation_p.R215H|NXPE3_ENST00000477909.1_Missense_Mutation_p.R215H neurexophilin and PC-esterase domain family, member 3 AGTCTCTTCCGTTCAGGAAGA 0.483000 27 51 0 0 1 0 0 COQ6 51004 broad.mit.edu 37 14 74422544 74422544 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr14:74422544G>C ENST00000334571.2 + 4 434 c.394G>C c.(394-396)Gat>Cat p.D132H COQ6_ENST00000238709.4_Missense_Mutation_p.D57H|COQ6_ENST00000394026.4_Missense_Mutation_p.D107H|COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000554920.1_Missense_Mutation_p.D132H NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 132 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) GATAATGTTTGATAAGGATAA 0.458000 47 56 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179543552 179543552 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:179543552C>T ENST00000589042.1 - 143 33972 c.33748G>A c.(33748-33750)Gaa>Aaa p.E11250K TTN_ENST00000342992.6_Missense_Mutation_p.E10006K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10933K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10933 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGGCACTTCAGGAACTTCA 0.423000 16 34 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71410828 71410828 + Silent SNP G G A rs148179574 TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:71410828G>A ENST00000392650.3 - 18 2439 c.2439C>T c.(2437-2439)aaC>aaT p.N813N SDK2_ENST00000388726.3_Silent_p.N813N NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 813 Fibronectin type-III 3. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GGCTGGGGGCGTTCCAGGTGA 0.602000 22 44 0 0 1 0 0 TCF12 6938 broad.mit.edu 37 15 57545626 57545626 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr15:57545626G>C ENST00000267811.5 + 15 1659 c.1355G>C c.(1354-1356)gGa>gCa p.G452A TCF12_ENST00000452095.2_Missense_Mutation_p.G472A|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000559703.1_Missense_Mutation_p.G110A|TCF12_ENST00000438423.2_Missense_Mutation_p.G476A|TCF12_ENST00000559710.1_Missense_Mutation_p.G86A|TCF12_ENST00000557843.1_Missense_Mutation_p.G452A|TCF12_ENST00000343827.3_Missense_Mutation_p.G282A|TCF12_ENST00000543579.1_Missense_Mutation_p.G306A|TCF12_ENST00000537840.1_Missense_Mutation_p.G216A|TCF12_ENST00000333725.5_Missense_Mutation_p.G476A NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 452 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TCAAACTATGGAGGATCAAGC 0.413000 T TEC extraskeletal myxoid chondrosarcoma 17 47 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75168777 75168777 + Silent SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:75168777C>T ENST00000336898.3 - 5 1113 c.276G>A c.(274-276)gtG>gtA p.V92V GDPD5_ENST00000529721.1_Silent_p.V92V|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000443276.2_Silent_p.V92V|GDPD5_ENST00000533784.1_Intron NM_030792.6 NP_110419.5 Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 92 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 CAGCTGTGGTCACAAGGATGG 0.637000 3 29 0 0 1 0 0 PHF1 5252 broad.mit.edu 37 6 33381015 33381015 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:33381015G>C ENST00000374516.3 + 5 651 c.380G>C c.(379-381)gGa>gCa p.G127A PHF1_ENST00000374512.3_Missense_Mutation_p.G127A NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 127 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CCAGCCCCTGGAGAGGGAGAG 0.552000 6 38 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125526490 125526490 + Splice_Site SNP G G A rs143241838 TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr10:125526490G>A ENST00000241305.3 - 10 1632 c.1478C>T c.(1477-1479)aCg>aTg p.T493M CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 493 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 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) TTGACTCACCGTGGCATTTTC 0.463000 14 38 0 0 1 0 0 RAB20 55647 broad.mit.edu 37 13 111213777 111213777 + Missense_Mutation SNP G G T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr13:111213777G>T ENST00000267328.3 - 1 303 c.90C>A c.(88-90)ttC>ttA p.F30L NM_017817.1 NP_060287.1 Q9NX57 RAB20_HUMAN RAB20, member RAS oncogene family 30 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(2)|large_intestine(2)|lung(3) 7 all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197) CCGTGTCCGGGAAGCGCCGCT 0.637000 7 17 2.0095e-06 2.09323e-06 1 1 0 AARS 16 broad.mit.edu 37 16 70316654 70316654 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:70316654G>C ENST00000261772.8 - 2 156 c.13C>G c.(13-15)Cta>Gta p.L5V NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 5 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) CTTGCTGTTAGAGTAGAGTCC 0.398000 29 183 0 0 1 0 0 EPHX1 2052 broad.mit.edu 37 1 226026400 226026400 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:226026400C>T ENST00000366837.4 + 4 606 c.410C>T c.(409-411)gCa>gTa p.A137V EPHX1_ENST00000272167.5_Missense_Mutation_p.A137V NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 137 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CAGCTGCCCGCAGGCCATACC 0.602000 11 112 0 0 1 0 0 PNP 4860 broad.mit.edu 37 14 20944709 20944709 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr14:20944709G>C ENST00000361505.5 + 6 965 c.819G>C c.(817-819)caG>caC p.Q273H RP11-203M5.8_ENST00000554678.1_lincRNA NM_000270.3 NP_000261.2 P00491 PNPH_HUMAN purine nucleoside phosphorylase 273 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) AATTGGAACAGTTTGTCTCCA 0.488000 9 39 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578239 7578239 + Nonsense_Mutation SNP C C A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:7578239C>A ENST00000420246.2 - 6 742 c.610G>T c.(610-612)Gag>Tag p.E204* TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E204*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 204 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCCAAATACTCCACACGCAAA 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 21 0.0215528 0.021844 1 1 0 ZNF788 388507 broad.mit.edu 37 19 12221212 12221212 + Translation_Start_Site SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:12221212G>A ENST00000339302.4 + 0 301 ZNF788_ENST00000596883.1_Silent_p.V52V|ZNF788_ENST00000430298.2_Silent_p.V32V|ZNF20_ENST00000600335.1_Intron zinc finger family member 788 endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 2 ACCGAGAAGTGATGCAAGAAA 0.458000 5 30 0 0 1 0 0 TMEM8B 51754 broad.mit.edu 37 9 35853728 35853728 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr9:35853728C>T ENST00000377988.2 + 13 2598 c.1310C>T c.(1309-1311)tCt>tTt p.S437F TMEM8B_ENST00000377991.4_Missense_Mutation_p.S437F NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 437 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 GGGGTCCCATCTGGAGCCCGG 0.617000 28 19 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 163032438 163032438 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr4:163032438C>G ENST00000306100.5 - 2 547 c.111G>C c.(109-111)atG>atC p.M37I FSTL5_ENST00000536695.1_Missense_Mutation_p.M37I|FSTL5_ENST00000427802.2_Missense_Mutation_p.M37I|FSTL5_ENST00000379164.4_Missense_Mutation_p.M37I NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 37 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GTCGCAATCTCATTAGAGGCT 0.403000 13 79 0 0 1 0 0 MAPKAPK5 8550 broad.mit.edu 37 12 112323737 112323737 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:112323737C>T ENST00000550735.2 + 10 1622 c.866C>T c.(865-867)cCg>cTg p.P289L MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.P289L NM_003668.2|NM_139078.1 NP_003659.2|NP_620777.1 Q8IW41 MAPK5_HUMAN mitogen-activated protein kinase-activated protein kinase 5 289 Protein kinase. signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity endometrium(1)|lung(11)|ovary(1) 13 AAGGTCAAACCGGAGGAGAGA 0.562000 14 30 0 0 1 0 0 P2RX2 22953 broad.mit.edu 37 12 133197918 133197918 + Missense_Mutation SNP T T C rs139357505 by1000genomes TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:133197918T>C ENST00000389110.3 + 9 1020 c.983T>C c.(982-984)aTt>aCt p.I328T P2RX2_ENST00000350048.5_Missense_Mutation_p.I304T|P2RX2_ENST00000352418.4_Missense_Mutation_p.I256T|P2RX2_ENST00000449132.2_Missense_Mutation_p.I294T|P2RX2_ENST00000351222.4_Missense_Mutation_p.I236T|P2RX2_ENST00000343948.4_Missense_Mutation_p.I328T|P2RX2_ENST00000348800.5_Missense_Mutation_p.I328T NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 328 Pore-forming motif (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) ATTGACGTCATTGTGCATGGA 0.612000 11 209 0 0 1 0 0 ZBTB17 7709 broad.mit.edu 37 1 16274863 16274863 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:16274863G>A ENST00000375733.2 - 3 366 c.128C>T c.(127-129)gCg>gTg p.A43V ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A43V|ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A43V Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 43 BTB. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GCTGCAGGCCGCCAGCACTGC 0.587000 3 36 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229567777 229567777 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:229567777G>A ENST00000366684.3 - 5 874 c.772C>T c.(772-774)Cgc>Tgc p.R258C ACTA1_ENST00000366683.2_Missense_Mutation_p.R170C NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 258 R -> H (in NEM3; severe).|R -> L (in NEM3). muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) TCCGGGCAGCGGAAGCGCTCG 0.711000 6 25 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103639 168103639 + Missense_Mutation SNP C C A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:168103639C>A ENST00000409195.1 + 9 5826 c.5737C>A c.(5737-5739)Ctg>Atg p.L1913M XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1913M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1691M|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1738 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GACAGAAATTCTGAAAAAGGA 0.363000 4 40 2.56e-06 2.65438e-06 1 1 0 HOOK1 51361 broad.mit.edu 37 1 60312757 60312757 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:60312757G>A ENST00000371208.3 + 10 1086 c.829G>A c.(829-831)Gaa>Aaa p.E277K HOOK1_ENST00000395561.2_Missense_Mutation_p.E235K|HOOK1_ENST00000465876.1_3'UTR NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 277 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) TCACTGTGAAGAACTTGAAAA 0.323000 16 126 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73462367 73462367 + Silent SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr10:73462367C>G ENST00000224721.6 + 23 2669 c.2664C>G c.(2662-2664)ctC>ctG p.L888L CDH23_ENST00000299366.7_Silent_p.L928L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 883 Cadherin 8. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TCTTGGATCTCAATGACAATG 0.572000 35 66 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42129708 42129708 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr8:42129708C>G ENST00000520810.1 + 2 276 c.90C>G c.(88-90)atC>atG p.I30M IKBKB_ENST00000518983.1_Missense_Mutation_p.I30M|IKBKB_ENST00000379708.3_Missense_Mutation_p.S3C|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.S3C|IKBKB_ENST00000519735.1_Missense_Mutation_p.I30M|IKBKB_ENST00000522147.1_Missense_Mutation_p.I30M NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 30 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GAAATGTCATCCGATGGCACA 0.592000 21 44 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 26026180 26026180 + Missense_Mutation SNP C C A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr15:26026180C>A ENST00000356865.6 - 2 751 c.640G>T c.(640-642)Ggc>Tgc p.G214C NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 214 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCCGAGAAGCCGCGGACCACC 0.617000 11 57 7.03913e-09 7.4357e-09 1 1 0 ATL2 64225 broad.mit.edu 37 2 38542449 38542449 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:38542449C>G ENST00000378954.4 - 5 632 c.631G>C c.(631-633)Gaa>Caa p.E211Q ATL2_ENST00000406122.1_Missense_Mutation_p.E40Q|ATL2_ENST00000419554.2_Missense_Mutation_p.E211Q|ATL2_ENST00000452935.2_Missense_Mutation_p.E193Q|ATL2_ENST00000332337.4_Missense_Mutation_p.E193Q|ATL2_ENST00000402054.1_Missense_Mutation_p.E40Q|ATL2_ENST00000546051.1_Missense_Mutation_p.E40Q|ATL2_ENST00000539122.1_Missense_Mutation_p.E40Q NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 211 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 AGATCATCTTCTTGAATATTC 0.308000 13 41 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30569404 30569404 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:30569404G>C ENST00000376511.2 - 20 3297 c.2745C>G c.(2743-2745)ttC>ttG p.F915L NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 915 protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 CCTTCATCATGAAATGTCGGC 0.562000 5 23 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130649121 130649121 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:130649121G>A ENST00000229030.4 + 1 2118 c.1634G>A c.(1633-1635)aGa>aAa p.R545K FZD10_ENST00000539839.1_3'UTR Q9ULW2 FZD10_HUMAN frizzled family receptor 10 545 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) AAGAGCCGGAGAAAACCGGCC 0.567000 5 56 0 0 1 0 0 HNMT 3176 broad.mit.edu 37 2 138738934 138738934 + Silent SNP A A G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:138738934A>G ENST00000329366.4 + 3 521 c.339A>G c.(337-339)aaA>aaG p.K113K HNMT_ENST00000485653.1_Intron|HNMT_ENST00000280097.3_Intron|HNMT_ENST00000410115.1_Intron NM_001024075.1 NP_001019246.1 P50135 HNMT_HUMAN histamine N-methyltransferase 0 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) TAGAAAGCAAatctgcatttc 0.433000 26 80 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33424513 33424513 + Missense_Mutation SNP T T C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:33424513T>C ENST00000305768.5 - 8 818 c.730A>G c.(730-732)Aaa>Gaa p.K244E CEP89_ENST00000590597.2_Missense_Mutation_p.K244E NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TTTTCTTCTTTTAATGCCTCA 0.328000 45 81 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65489366 65489366 + Silent SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr15:65489366C>T ENST00000261883.4 - 9 3424 c.3258G>A c.(3256-3258)acG>acA p.T1086T NM_003613.3 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 1086 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TCTCCTTGGCCGTGCGAGGGT 0.572000 6 17 0 0 1 0 0 SCG3 29106 broad.mit.edu 37 15 51980540 51980540 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr15:51980540G>C ENST00000220478.3 + 5 884 c.481G>C c.(481-483)Gaa>Caa p.E161Q SCG3_ENST00000542355.2_5'UTR NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 161 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) CAGGATTTATGAAGAAAATGA 0.413000 11 43 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27841978 27841978 + Missense_Mutation SNP A A G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:27841978A>G ENST00000318304.8 + 26 2828 c.2545A>G c.(2545-2547)Atg>Gtg p.M849V PPFIBP1_ENST00000228425.6_Missense_Mutation_p.M843V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.M696V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.M818V NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 849 SAM 3. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) CGTAGAAACAATGGCTCAGTT 0.393000 19 151 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 125032420 125032420 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr3:125032420G>C ENST00000360647.4 - 4 550 c.65C>G c.(64-66)tCt>tGt p.S22C ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.S22C|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.S22C|ZNF148_ENST00000484491.1_Missense_Mutation_p.S22C NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 22 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TGTCCTGGAAGACTGCATTTC 0.448000 19 72 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131803046 131803046 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:131803046C>T ENST00000392953.3 + 13 2467 c.1948C>T c.(1948-1950)Cgg>Tgg p.R650W ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.R650W|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000326016.5_Intron|ARHGEF4_ENST00000355771.3_Intron NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 655 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CCCACCTCCTCGGCTGCCCGG 0.612000 11 40 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 66 0.150653 0.150653 1 1 0 RNF141 50862 broad.mit.edu 37 11 10555657 10555657 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:10555657G>A ENST00000265981.2 - 2 191 c.49C>T c.(49-51)Cca>Tca p.P17S RNF141_ENST00000528665.1_Missense_Mutation_p.P17S NM_016422.3 NP_057506.2 Q8WVD5 RN141_HUMAN ring finger protein 141 17 zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064) ACTTTTTCTGGTAACTTGTTA 0.388000 18 65 0 0 1 0 0 SPIDR 23514 broad.mit.edu 37 8 48352894 48352894 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr8:48352894C>G ENST00000297423.4 + 8 1271 c.887C>G c.(886-888)tCt>tGt p.S296C SPIDR_ENST00000518074.1_Missense_Mutation_p.S236C|SPIDR_ENST00000541342.1_Missense_Mutation_p.S226C|SPIDR_ENST00000521214.1_3'UTR NM_001080394.2|NM_001282916.1 NP_001073863.1|NP_001269845.1 scaffolding protein involved in DNA repair GGTAGAAAATCTGGTGTATTA 0.398000 21 37 0 0 1 0 0 PTPRA 5786 broad.mit.edu 37 20 3008457 3008457 + Silent SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr20:3008457G>C ENST00000216877.6 + 19 2263 c.1863G>C c.(1861-1863)gtG>gtC p.V621V PTPRA_ENST00000399903.2_Silent_p.V630V|PTPRA_ENST00000318266.5_Silent_p.V621V|PTPRA_ENST00000356147.3_Silent_p.V621V|PTPRA_ENST00000380393.3_Silent_p.V630V|PTPRA_ENST00000425918.2_Silent_p.V641V|PTPRA_ENST00000358719.4_Silent_p.V486V NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 630 Tyrosine-protein phosphatase 2. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GCTCTATCGTGATGCTAACAG 0.522000 8 37 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149148129 149148129 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:149148129C>G ENST00000247930.4 - 4 1371 c.1048G>C c.(1048-1050)Gac>Cac p.D350H NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 350 Glu-rich.|KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCCTCAGAGTCTTCCTGCTCC 0.532000 28 52 0 0 1 0 0 LOC100134368 100134368 broad.mit.edu 37 16 437277 437277 + RNA SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:437277C>G ENST00000412293.1 + 0 521 NR_024453.2 ATATATATatcttgtcaccat 0.428000 3 10 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171399459 171399459 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:171399459G>A ENST00000334231.6 + 31 3646 c.3646G>A c.(3646-3648)Gca>Aca p.A1216T MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A1207T|MYO3B_ENST00000409044.3_Missense_Mutation_p.A1180T Q8WXR4 MYO3B_HUMAN myosin IIIB 1207 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CGATATCTTCGCAGGACATGC 0.368000 12 104 0 0 1 0 0 EMP2 2013 broad.mit.edu 37 16 10626925 10626925 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:10626925G>C ENST00000359543.3 - 5 550 c.341C>G c.(340-342)tCc>tGc p.S114C EMP2_ENST00000536829.1_Missense_Mutation_p.S114C NM_001424.4 NP_001415.1 P54851 EMP2_HUMAN epithelial membrane protein 2 114 cell proliferation integral to membrane p.S114Y(1) NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 TGTATAAATGGAGGCCGCAAT 0.512000 12 64 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006001 74006001 + Silent SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:74006001C>G ENST00000301607.3 - 22 3538 c.3285G>C c.(3283-3285)ctG>ctC p.L1095L EVPL_ENST00000586740.1_Silent_p.L1117L NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1095 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCTGCAGCCTCAGAGCCTGGG 0.592000 9 41 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861513 55861513 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:55861513C>T ENST00000302124.2 + 1 761 c.730C>T c.(730-732)Ctc>Ttc p.L244F NM_001003750.1 NP_001003750.1 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) CGCATCCCACCTCATGGCTGT 0.488000 11 54 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145757708 145757708 + Silent SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr8:145757708C>T ENST00000276826.5 - 8 3069 c.2868G>A c.(2866-2868)ctG>ctA p.L956L ARHGAP39_ENST00000540274.1_Silent_p.L956L|ARHGAP39_ENST00000377307.2_Silent_p.L987L Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 956 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GGGGGTCTTCCAGGCCTGTGG 0.672000 3 21 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 12 22 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9407300 9407300 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:9407300G>A ENST00000591998.1 - 6 1008 c.780C>T c.(778-780)ttC>ttT p.F260F ZNF699_ENST00000308650.3_Silent_p.F260F Q32M78 ZN699_HUMAN zinc finger protein 699 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGGAACAGCTGAAGGCTTTGG 0.408000 17 73 0 0 1 0 0 LIN9 286826 broad.mit.edu 37 1 226496865 226496865 + Silent SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:226496865C>T ENST00000328205.5 - 1 569 c.24G>A c.(22-24)ttG>ttA p.L8L LIN9_ENST00000366801.1_5'UTR|LIN9_ENST00000481685.1_Silent_p.L8L NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 0 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GCCGCTTTTTCAAAGGCTGCC 0.662000 19 61 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11193838 11193838 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:11193838G>A ENST00000379446.5 - 3 713 c.547C>T c.(547-549)Cat>Tat p.H183Y NEDD9_ENST00000504387.1_Missense_Mutation_p.H183Y|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 183 Interacts strongly with spindle- regulatory protein D1M1. actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TGAGTGGTATGAGAAGGAGGG 0.502000 13 26 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50720992 50720992 + Missense_Mutation SNP G G A rs138001307 by1000genomes TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:50720992G>A ENST00000440075.2 + 3 573 c.526G>A c.(526-528)Gca>Aca p.A176T MYH14_ENST00000596571.1_Missense_Mutation_p.A176T|MYH14_ENST00000601313.1_Missense_Mutation_p.A176T|MYH14_ENST00000425460.1_Missense_Mutation_p.A176T|MYH14_ENST00000262269.8_Missense_Mutation_p.A176T|MYH14_ENST00000376970.2_Missense_Mutation_p.A176T|MYH14_ENST00000598205.1_Missense_Mutation_p.A176T Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 176 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CCACGTGTACGCAGTGACCGA 0.632000 34 79 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 114987 114987 + Silent SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:114987C>T ENST00000262316.6 - 2 169 c.27G>A c.(25-27)acG>acA p.T9T RHBDF1_ENST00000454039.2_Silent_p.T9T NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 9 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) GCAGGCTGCTCGTGCTGTCCC 0.597000 7 33 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62234019 62234019 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr15:62234019G>C ENST00000261517.5 - 46 5469 c.5396C>G c.(5395-5397)tCt>tGt p.S1799C VPS13C_ENST00000249837.3_Missense_Mutation_p.S1756C|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1799C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1756C NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1799 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGGAGGAAGAGAATAATGTTC 0.343000 9 27 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14834400 14834400 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:14834400G>A ENST00000261170.3 - 5 759 c.623C>T c.(622-624)gCt>gTt p.A208V RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 208 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGCCTCCAGAGCATTAAGGTA 0.428000 25 18 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105420847 105420847 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr10:105420847C>T ENST00000369774.4 - 8 774 c.498G>A c.(496-498)atG>atA p.M166I SH3PXD2A_ENST00000538130.1_Start_Codon_SNP_p.M1I|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.M28I|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.M33I|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.M166I Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 166 SH3 1. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GTTCCAGGATCATGGGCTCGG 0.662000 51 99 0 0 1 0 0 GLIPR1 11010 broad.mit.edu 37 12 75884198 75884198 + Missense_Mutation SNP G G T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:75884198G>T ENST00000266659.3 + 3 634 c.433G>T c.(433-435)Gat>Tat p.D145Y NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 145 cellular lipid metabolic process extracellular region|integral to membrane p.D145Y(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 TGTTTGGGCAGATAGTTACAA 0.388000 12 13 9.31168e-06 9.56679e-06 1 1 0 RINT1 60561 broad.mit.edu 37 7 105205877 105205877 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:105205877G>A ENST00000257700.2 + 13 2271 c.2040G>A c.(2038-2040)gaG>gaA p.E680E EFCAB10_ENST00000485614.1_3'UTR|EFCAB10_ENST00000480514.1_3'UTR NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 680 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TGCTTGTAGAGAAGCTGGATG 0.378000 27 49 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142460325 142460325 + Silent SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:142460325G>C ENST00000486171.1 + 5 557 c.540G>C c.(538-540)ctG>ctC p.L180L PRSS1_ENST00000311737.7_Silent_p.L166L P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 166 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.L166L(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CTCCTGTGCTGAGCCAGGCTA 0.527000 27 233 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33131495 33131495 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:33131495C>T ENST00000341947.2 - 66 5398 c.5171G>A c.(5170-5172)cGg>cAg p.R1724Q COL11A2_ENST00000357486.1_Missense_Mutation_p.R1703Q|COL11A2_ENST00000374712.1_Missense_Mutation_p.R1643Q|COL11A2_ENST00000374708.4_Missense_Mutation_p.R1638Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.R1617Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.R1664Q|COL11A2_ENST00000374714.1_Missense_Mutation_p.R1698Q|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374713.1_Missense_Mutation_p.R1677Q NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1724 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CACCCCTCCCCGCCTCGGTGG 0.637000 14 34 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110366476 110366476 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chrX:110366476C>T ENST00000372007.5 + 5 536 c.145C>T c.(145-147)Cgc>Tgc p.R49C PAK3_ENST00000360648.4_Missense_Mutation_p.R49C|PAK3_ENST00000417227.1_Missense_Mutation_p.R49C|PAK3_ENST00000519681.1_Missense_Mutation_p.R49C|PAK3_ENST00000518291.1_Missense_Mutation_p.R49C|PAK3_ENST00000262836.4_Missense_Mutation_p.R49C|PAK3_ENST00000425146.1_Missense_Mutation_p.R49C|PAK3_ENST00000446737.1_Missense_Mutation_p.R49C|PAK3_ENST00000372010.1_Missense_Mutation_p.R49C NM_002578.3 NP_002569.1 O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGCCAGGCTTCGCTCTATCTT 0.448000 TSP Lung(19;0.15) 18 42 0 0 1 0 0 PIRT 644139 broad.mit.edu 37 17 10728777 10728777 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:10728777G>A ENST00000580256.2 - 2 824 c.186C>T c.(184-186)ggC>ggT p.G62G NM_001101387.1 NP_001094857.1 P0C851 PIRT_HUMAN phosphoinositide-interacting regulator of transient receptor potential channels integral to membrane p.G62G(2) endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1) 8 GGATGGCACCGCCCACTGACA 0.567000 17 15 0 0 1 0 0 GIF 2694 broad.mit.edu 37 11 59599270 59599270 + Splice_Site SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:59599270C>G ENST00000541311.1 - 8 1233 c.e8-1 GIF_ENST00000257248.2_Splice_Site P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GGTTTCAAATCTAAAAAAAAG 0.338000 14 37 0 0 1 0 0 TIGD7 91151 broad.mit.edu 37 16 3350606 3350606 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:3350606C>G ENST00000396862.1 - 2 1837 c.9G>C c.(7-9)aaG>aaC p.K3N TIGD7_ENST00000268674.2_Missense_Mutation_p.K3N NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 3 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 ATTTCCCTCTCTTATTCATAC 0.328000 9 51 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10432260 10432260 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:10432260G>A ENST00000245503.5 - 27 3875 c.3491C>T c.(3490-3492)tCa>tTa p.S1164L MYH2_ENST00000397183.2_Missense_Mutation_p.S1164L|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1164 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AATCTGGGCTGAAGTGGCCCC 0.632000 54 68 0 0 1 0 0 GNL1 2794 broad.mit.edu 37 6 30522657 30522657 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:30522657C>G ENST00000376621.3 - 4 1382 c.412G>C c.(412-414)Gag>Cag p.E138Q NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 138 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity p.E138K(1) cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TTGGACATCTCATAGCTCCAA 0.473000 27 36 0 0 1 0 0 RAB1B 81876 broad.mit.edu 37 11 66039643 66039643 + Nonsense_Mutation SNP G G T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:66039643G>T ENST00000311481.6 + 3 250 c.103G>T c.(103-105)Gag>Tag p.E35* RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Nonsense_Mutation_p.E35* NM_030981.2 NP_112243.1 Q9H0U4 RAB1B_HUMAN RAB1B, member RAS oncogene family 35 protein transport|small GTPase mediated signal transduction Golgi apparatus|membrane GTP binding|protein binding large_intestine(2)|lung(1)|ovary(1)|prostate(1) 5 CACGTACACAGAGAGCTACAT 0.527000 22 119 3.8784e-16 4.19539e-16 1 1 0 TEFM 79736 broad.mit.edu 37 17 29226501 29226501 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:29226501G>C ENST00000581216.1 - 4 1390 c.769C>G c.(769-771)Ctg>Gtg p.L257V TEFM_ENST00000580840.1_3'UTR NM_024683.3 NP_078959.3 Q96QE5 TEFM_HUMAN transcription elongation factor, mitochondrial 257 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding AAGGCATACAGCATGGCTTCC 0.403000 15 105 0 0 1 0 0 UBE2D1 7321 broad.mit.edu 37 10 60123418 60123418 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr10:60123418C>G ENST00000373910.4 + 4 397 c.170C>G c.(169-171)cCg>cGg p.P57R NM_001204880.1|NM_003338.4 NP_001191809.1|NP_003329.1 P51668 UB2D1_HUMAN ubiquitin-conjugating enzyme E2D 1 57 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2) 10 GTACATTTTCCGACAGATTAT 0.308000 13 46 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 5 74 0 0 1 0 0 CALHM1 255022 broad.mit.edu 37 10 105215037 105215037 + Silent SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr10:105215037G>C ENST00000329905.5 - 2 1159 c.1023C>G c.(1021-1023)acC>acG p.T341T RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 341 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 TGCTGAAGTAGGTGGCCACCT 0.652000 5 9 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38451431 38451431 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr5:38451431G>C ENST00000322350.5 + 19 2904 c.2558G>C c.(2557-2559)aGa>aCa p.R853T EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R861T|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R219T|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R619T|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000514476.1_5'UTR NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 861 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TCAGGATCAAGATCAAATGTG 0.473000 16 160 0 0 1 0 0 TMED4 222068 broad.mit.edu 37 7 44621076 44621076 + Missense_Mutation SNP C C A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:44621076C>A ENST00000457408.2 - 3 411 c.359G>T c.(358-360)aGg>aTg p.R120M TMED4_ENST00000481238.1_Missense_Mutation_p.R120M|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000289577.5_Missense_Mutation_p.R120M NM_182547.2 NP_872353.2 Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 120 GOLD. positive regulation of I-kappaB kinase/NF-kappaB cascade|transport endoplasmic reticulum membrane|integral to membrane signal transducer activity breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GAGAGCCATCCTGGTAGAATT 0.507000 36 78 7.53189e-24 8.18684e-24 1 1 0 KIAA1109 84162 broad.mit.edu 37 4 123145733 123145733 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr4:123145733C>G ENST00000264501.4 + 23 3067 c.2694C>G c.(2692-2694)ttC>ttG p.F898L KIAA1109_ENST00000455637.1_Missense_Mutation_p.F898L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.F898L|KIAA1109_ENST00000495260.1_3'UTR Q2LD37 K1109_HUMAN KIAA1109 898 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ACGCTATGTTCTCAGCAGAAG 0.483000 9 25 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108642051 108642051 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:108642051C>G ENST00000332082.4 + 10 2447 c.1629C>G c.(1627-1629)atC>atG p.I543M WSCD2_ENST00000549903.1_Missense_Mutation_p.I563M|WSCD2_ENST00000261400.3_Missense_Mutation_p.I563M|WSCD2_ENST00000547525.1_Missense_Mutation_p.I543M Q2TBF2 WSCD2_HUMAN WSC domain containing 2 543 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CTGCCTACATCAAGATGGTGG 0.567000 11 30 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41008181 41008181 + Silent SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:41008181C>T ENST00000352632.3 + 9 1130 c.1044C>T c.(1042-1044)ctC>ctT p.L348L SPTBN4_ENST00000595535.1_Silent_p.L348L|SPTBN4_ENST00000338932.3_Silent_p.L348L|SPTBN4_ENST00000598249.1_Silent_p.L348L|SPTBN4_ENST00000344104.3_Silent_p.L348L Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 348 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGCAGCAACTCCAGGCTTTCA 0.622000 18 52 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27614352 27614352 + Splice_Site SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:27614352G>A ENST00000319394.3 + 6 1014 c.479G>A c.(478-480)cGc>cAc p.R160H WDTC1_ENST00000361771.3_Splice_Site_p.R160H NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 160 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) GGGCTTATCCGGTAAGAGTCT 0.557000 3 3 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 101 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177037064 177037064 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr4:177037064G>A ENST00000393643.2 + 3 493 c.241G>A c.(241-243)Gat>Aat p.D81N WDR17_ENST00000508596.1_Missense_Mutation_p.D81N|WDR17_ENST00000280190.4_Missense_Mutation_p.D105N|WDR17_ENST00000507824.2_Missense_Mutation_p.D105N NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 105 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TGGCAGTACTGATAATTTAGT 0.328000 11 22 0 0 1 0 0 CYB5R1 51706 broad.mit.edu 37 1 202932290 202932290 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:202932290C>T ENST00000367249.4 - 8 723 c.649G>A c.(649-651)Gaa>Aaa p.E217K CYB5R1_ENST00000497655.1_5'UTR NM_016243.2 NP_057327.2 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 217 sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(75;0.141) ATATCCTTTTCTGTCTGAAAT 0.433000 18 41 0 0 1 0 0 TUBG2 27175 broad.mit.edu 37 17 40817778 40817778 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:40817778C>T ENST00000251412.7 + 8 975 c.776C>T c.(775-777)tCg>tTg p.S259L NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 259 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) CTCATCGCCTCGCTCATTCCC 0.622000 19 81 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39201111 39201111 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr4:39201111G>C ENST00000399820.3 + 6 574 c.420G>C c.(418-420)aaG>aaC p.K140N WDR19_ENST00000288634.7_5'UTR|WDR19_ENST00000506503.1_Missense_Mutation_p.K140N NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 140 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AACATACTAAGAGAATCACTT 0.328000 3 14 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101095297 101095297 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:101095297C>T ENST00000369162.2 - 21 3627 c.3283G>A c.(3283-3285)Gaa>Aaa p.E1095K NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1095 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AGAGCAATTTCAAAAAGAGCA 0.398000 7 44 0 0 1 0 0 FRMD8 83786 broad.mit.edu 37 11 65154550 65154550 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:65154550G>A ENST00000317568.5 + 2 206 c.43G>A c.(43-45)Gag>Aag p.E15K FRMD8_ENST00000355991.5_Missense_Mutation_p.E15K|FRMD8_ENST00000531296.1_Missense_Mutation_p.E15K|FRMD8_ENST00000416776.2_Missense_Mutation_p.E15K NM_031904.3 NP_114110.1 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 15 cytoskeleton binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 CGGCCCCGCTGAGCGATCCCA 0.672000 23 49 0 0 1 0 0 C5orf22 55322 broad.mit.edu 37 5 31538746 31538746 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr5:31538746G>C ENST00000325366.9 + 4 884 c.757G>C c.(757-759)Gac>Cac p.D253H C5orf22_ENST00000355907.3_5'UTR NM_018356.2 NP_060826.2 Q49AR2 CE022_HUMAN chromosome 5 open reading frame 22 253 kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1) 18 TTTAGATATTGACTTGGATTT 0.348000 10 62 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724206 140724206 + Silent SNP T T G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr5:140724206T>G ENST00000253812.6 + 1 606 c.606T>G c.(604-606)cgT>cgG p.R202R PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTGGACCGTGAGAAAAAAG 0.537000 22 31 0 0 1 0 0 C4orf22 255119 broad.mit.edu 37 4 81791204 81791204 + Missense_Mutation SNP G G T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr4:81791204G>T ENST00000358105.3 + 4 440 c.391G>T c.(391-393)Gac>Tac p.D131Y C4orf22_ENST00000508675.1_Missense_Mutation_p.D148Y NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 131 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 AGGATACATCGACTATGCCCA 0.368000 30 46 4.74835e-14 5.06341e-14 1 1 0 LOC101927060 101927060 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 4 44 0 0 1 0 0 TMEM184A 202915 broad.mit.edu 37 7 1594935 1594935 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:1594935G>A ENST00000297477.5 - 2 502 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 62 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CAGTCCACACGAAGATCCCCG 0.682000 4 11 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66703945 66703945 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:66703945G>C ENST00000247815.4 + 4 1296 c.1237G>C c.(1237-1239)Gaa>Caa p.E413Q NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 413 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AGTAAGATTAGAAAATCCTGT 0.398000 21 107 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15894505 15894505 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:15894505G>A ENST00000375847.3 + 15 2346 c.2182G>A c.(2182-2184)Gat>Aat p.D728N DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_3'UTR NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 728 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GTCGTGCAGTGATGTTGACTC 0.502000 9 38 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 380902 380902 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:380902G>A ENST00000329962.6 + 19 2947 c.2947G>A c.(2947-2949)Gag>Aag p.E983K NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 983 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AATGAACACGGAGGAGTTCCG 0.622000 5 23 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157256609 157256609 + Nonsense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:157256609C>T ENST00000346085.5 + 5 1937 c.1936C>T c.(1936-1938)Cag>Tag p.Q646* ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q633*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q633*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q575* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 633 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GGACATGTCTCAGGAAGGCTA 0.378000 20 62 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193044814 193044814 + Silent SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr3:193044814G>C ENST00000342358.4 - 13 1611 c.1494C>G c.(1492-1494)ctC>ctG p.L498L NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 498 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CAGTCCCCCAGAGGTCCAGCC 0.383000 5 27 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104408 5104408 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:5104408G>A ENST00000396912.1 + 5 1840 c.1321G>A c.(1321-1323)Gtg>Atg p.V441M RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.V441M NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 441 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) CTTTTCTCGGGTGTCATACCT 0.393000 30 47 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52517693 52517693 + Missense_Mutation SNP G G C TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr15:52517693G>C ENST00000261839.7 - 26 3405 c.3244C>G c.(3244-3246)Cag>Gag p.Q1082E NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1082 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TTCTGTGCCTGAAGTAGTTCT 0.373000 20 80 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9861227 9861227 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:9861227C>G ENST00000256190.8 - 26 3410 c.3273G>C c.(3271-3273)gaG>gaC p.E1091D RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1091 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TTGTGGGGAGCTCACTCTCAT 0.458000 16 62 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647544 20647544 + Missense_Mutation SNP C C A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr2:20647544C>A ENST00000272233.4 + 1 710 c.318C>A c.(316-318)ttC>ttA p.F106L NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 106 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) TGAAGCACTTCTGTCCCAATG 0.607000 40 106 2.59497e-14 2.78033e-14 1 1 0 DCDC1 341019 broad.mit.edu 37 11 31312247 31312247 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:31312247C>T ENST00000597505.1 - 5 906 c.907G>A c.(907-909)Ggc>Agc p.G303S DCDC1_ENST00000452803.1_Missense_Mutation_p.G303S P59894 DCDC1_HUMAN doublecortin domain containing 1 303 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TGCCCCATGCCATTCTTAAAG 0.338000 15 67 0 0 1 0 0 TRIM41 90933 broad.mit.edu 37 5 180661962 180661962 + Nonsense_Mutation SNP C C T rs151121296 TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr5:180661962C>T ENST00000351937.5 + 7 2208 c.1498C>T c.(1498-1500)Cag>Tag p.Q500* TRIM41_ENST00000315073.5_3'UTR NM_201627.2 NP_963921.1 Q8WV44 TRI41_HUMAN tripartite motif containing 41 176 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCTCCAGCTCAGCCTTCTCT 0.572000 17 27 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43945416 43945416 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr20:43945416G>A ENST00000343694.3 + 12 1443 c.1371G>A c.(1369-1371)atG>atA p.M457I RBPJL_ENST00000372743.1_Missense_Mutation_p.M456I|RBPJL_ENST00000372741.3_Missense_Mutation_p.E461K|RBPJL_ENST00000464504.1_3'UTR NM_001281448.1|NM_001281449.1|NM_014276.2 NP_001268377.1|NP_001268378.1|NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 457 IPT/TIG. signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) CAATCCCCATGAGCCTGGTGC 0.706000 23 50 0 0 1 0 0 PKIG 11142 broad.mit.edu 37 20 43246970 43246970 + Nonsense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr20:43246970C>T ENST00000372889.1 + 6 781 c.196C>T c.(196-198)Cag>Tag p.Q66* PKIG_ENST00000372894.3_Nonsense_Mutation_p.Q66*|PKIG_ENST00000349959.3_Nonsense_Mutation_p.Q66*|PKIG_ENST00000372887.1_Intron|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372891.3_Nonsense_Mutation_p.Q66*|PKIG_ENST00000372886.1_Nonsense_Mutation_p.Q66*|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372892.3_Nonsense_Mutation_p.Q66* NM_001281444.1 NP_001268373.1 Q9Y2B9 IPKG_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor gamma 66 cAMP-dependent protein kinase inhibitor activity|protein binding breast(1)|urinary_tract(1) 2 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) AGCTGGCAACCAGCCCCAGAG 0.562000 32 146 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78163292 78163292 + Missense_Mutation SNP C C A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr13:78163292C>A ENST00000535157.1 + 9 663 c.493C>A c.(493-495)Cac>Aac p.H165N SCEL_ENST00000349847.3_Missense_Mutation_p.H187N|SCEL_ENST00000377246.3_Missense_Mutation_p.H187N NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 187 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) ACCAGGTGTTCACCCTCCAAT 0.393000 58 48 4.45325e-31 4.86399e-31 1 1 0 OR4D11 219986 broad.mit.edu 37 11 59271312 59271312 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:59271312G>A ENST00000313253.1 + 1 264 c.264G>A c.(262-264)aaG>aaA p.K88K NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 TTCTGTCAAAGAAAAAGACCA 0.468000 13 101 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95690439 95690439 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr8:95690439C>T ENST00000433389.2 + 13 1850 c.1660C>T c.(1660-1662)Cct>Tct p.P554S ESRP1_ENST00000454170.2_Missense_Mutation_p.P554S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P550S|ESRP1_ENST00000358397.5_Missense_Mutation_p.P550S NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 554 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 AGGCCTGTCTCCTCCCTCCTA 0.463000 14 24 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423751 56423751 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:56423751C>G ENST00000588751.1 - 5 1456 c.1432G>C c.(1432-1434)Gga>Cga p.G478R NLRP13_ENST00000342929.3_Missense_Mutation_p.G478R Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 478 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CTCCATTGTCCTGGCCAGCTG 0.502000 7 105 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90020801 90020801 + Silent SNP G G A rs146417060 byFrequency TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr15:90020801G>A ENST00000268122.4 - 7 1127 c.1059C>T c.(1057-1059)atC>atT p.I353I RHCG_ENST00000544600.1_Silent_p.I353I NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 353 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.I353I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) CAGCACCCACGATGCCGCCTA 0.577000 7 15 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70549495 70549495 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr10:70549495G>A ENST00000265872.6 + 24 3335 c.3216G>A c.(3214-3216)ttG>ttA p.L1072L CCAR1_ENST00000535016.1_Silent_p.L1057L|CCAR1_ENST00000543719.1_Silent_p.L1057L NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 1072 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TATTAAATTTGGAGAATTCCA 0.269000 15 39 0 0 1 0 0 CST8 10047 broad.mit.edu 37 20 23472475 23472475 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr20:23472475C>G ENST00000246012.1 + 2 528 c.171C>G c.(169-171)aaC>aaG p.N57K NM_005492.2 NP_005483.1 O60676 CST8_HUMAN cystatin 8 (cystatin-related epididymal specific) 57 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) AAGAATACAACAAAGAGAGCG 0.458000 18 56 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 4 69 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144891738 144891738 + Missense_Mutation SNP C C T TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr8:144891738C>T ENST00000356994.2 - 14 1687 c.1681G>A c.(1681-1683)Gaa>Aaa p.E561K SCRIB_ENST00000377533.3_Missense_Mutation_p.E480K|SCRIB_ENST00000320476.3_Missense_Mutation_p.E561K NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 561 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TAGTCCTCTTCGGCGTCTTCC 0.692000 22 52 0 0 1 0 0 SNHG1 23642 broad.mit.edu 37 11 62621156 62621156 + RNA SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:62621156C>G ENST00000384693.1 - 0 48 NR_002561.1 TTCAGAGTCTCAACAGCAAGT 0.438000 5 80 0 0 1 0 0 PRDM11 56981 broad.mit.edu 37 11 45204507 45204507 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr11:45204507G>A ENST00000263765.4 + 5 670 c.421G>A c.(421-423)Gac>Aac p.D141N PRDM11_ENST00000530656.1_Missense_Mutation_p.D141N|PRDM11_ENST00000424263.2_Missense_Mutation_p.D107N|PRDM11_ENST00000528980.1_3'UTR Q9NQV5 PRD11_HUMAN PR domain containing 11 141 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 GGGCATCCCAGACCGGGCGGC 0.607000 13 17 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30492809 30492809 + Nonsense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr16:30492809C>G ENST00000356798.6 + 7 806 c.626C>G c.(625-627)tCa>tGa p.S209* ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S126*|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 209 VWFA. blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TTTGATTTCTCAGATTATGTT 0.393000 19 44 0 0 1 0 0 ACSF2 80221 broad.mit.edu 37 17 48538160 48538160 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr17:48538160G>A ENST00000427954.2 + 3 369 c.326G>A c.(325-327)aGg>aAg p.R109K ACSF2_ENST00000502667.1_Missense_Mutation_p.R84K|ACSF2_ENST00000504392.1_Missense_Mutation_p.R84K|ACSF2_ENST00000300441.4_Missense_Mutation_p.R84K|ACSF2_ENST00000541920.1_Intron Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 84 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) ACAGCACAGAGGGTCCCAGAA 0.577000 5 26 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19226822 19226822 + Missense_Mutation SNP C C G TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr22:19226822C>G ENST00000263200.10 - 5 843 c.771G>C c.(769-771)caG>caC p.Q257H CLTCL1_ENST00000353891.5_Missense_Mutation_p.Q257H|CLTCL1_ENST00000427926.1_Missense_Mutation_p.Q257H NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 257 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GAAAATCATTCTGTGCCTCTG 0.453000 T ? ALCL 32 100 0 0 1 0 0 ZNHIT6 54680 broad.mit.edu 37 1 86142945 86142945 + Frame_Shift_Del DEL A A - TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:86142945delA ENST00000431532.2 - 9 1252 c.1104delT c.(1102-1104)attfs p.I368fs ZNHIT6_ENST00000370574.3_Frame_Shift_Del_p.I407fs NM_001170670.1|NM_017953.3 NP_001164141.1|NP_060423.3 Q9NWK9 BCD1_HUMAN zinc finger, HIT-type containing 6 407 box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1) 17 GCATATATTCAATCTTCATTA 0.299 22 43 --- --- --- --- CENPF 1063 broad.mit.edu 37 1 214814820 214814820 + Frame_Shift_Del DEL C C - TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr1:214814820delC ENST00000366955.3 + 12 3307 c.3139delC c.(3139-3141)cagfs p.Q1047fs NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1047 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CAAAGCAGCACAGGAAAAGAA 0.328 12 48 --- --- --- --- CC2D2A 57545 broad.mit.edu 37 4 15513005 15513007 + In_Frame_Del DEL GAA GAA - rs112367037 TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr4:15513005_15513007delGAA ENST00000424120.1 + 8 930_932 c.676_678delGAA c.(676-678)gaadel p.E229del CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000503292.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000389652.5_In_Frame_Del_p.E180del Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 229 Poly-Glu. cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 GGAGGAAGGGGAAGAAGAAGAAC 0.443 2 4 --- --- --- --- STK38 11329 broad.mit.edu 37 6 36466216 36466224 + In_Frame_Del DEL CCTTCTTAT CCTTCTTAT - TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr6:36466216_36466224delCCTTCTTAT ENST00000229812.7 - 11 1277_1285 c.992_1000delATAAGAAGG c.(991-1002)tataagaaggtg>ttg p.331_334YKKV>L NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 331 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity p.K332T(1) NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAGTTCATCACCTTCTTATATGTCTCTTG 0.416 15 86 --- --- --- --- TRBV6-5 28602 broad.mit.edu 37 7 142180819 142180821 + RNA DEL AGG AGG - TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr7:142180819_142180821delAGG ENST00000390368.2 - 0 115 CCTGCAGAGAAGGAGAACAAAGC 0.557 8 104 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728933 37728933 + Frame_Shift_Del DEL T T - TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr8:37728933delT ENST00000330843.4 - 4 3399 c.3387delA c.(3385-3387)aaafs p.K1129fs RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGCTGTGGCTTTTTTTTGAG 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 2384 --- --- --- --- ASCL1 429 broad.mit.edu 37 12 103352172 103352174 + In_Frame_Del DEL GCA GCA - rs72405287 TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:103352172_103352174delGCA ENST00000266744.3 + 1 709_711 c.150_152delGCA c.(148-153)gcgcag>gcg p.Q62del NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 62 Poly-Gln. Q -> QQQ (in Ref. 1). cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity NS(3)|large_intestine(1)|lung(1) 5 cgcagagcgcgcagcagcagcag 0.754 2 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962147 131962148 + RNA INS - - TGA rs149149753 by1000genomes TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr12:131962147_131962148insTGA ENST00000535133.1 - 0 195 gatggtaatggtggtgatgatg 0.450 3 6 --- --- --- --- ZNF579 163033 broad.mit.edu 37 19 56089908 56089909 + In_Frame_Ins INS - - CCG rs141478862 by1000genomes TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81256b76-1f99-43b4-a726-a32258f160e6 44ed8f12-a1e4-4a81-bb59-f8a327cf3572 g.chr19:56089908_56089909insCCG ENST00000325421.4 - 2 1125_1126 c.1097_1098insCGG c.(1096-1098)ggg>ggCGGg p.366_366G>GG NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 366 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G366_Q367insG(1) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CTCCGTTCTGCCCTTCTCCCCC 0.748 3 4 --- --- --- ---