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 HMGCS2 3158 broad.mit.edu 37 1 120302609 120302609 + Missense_Mutation SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr1:120302609C>T ENST00000369406.3 - 3 612 c.563G>A c.(562-564)cGt>cAt p.R188H HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 188 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity p.R188H(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CATGGCATAACGACCTGTAAA 0.488000 26 72 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056757 9056757 + Missense_Mutation SNP G G T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr19:9056757G>T ENST00000397910.4 - 3 30892 c.30689C>A c.(30688-30690)cCc>cAc p.P10230H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10232 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P5863H(1)|p.P10230H(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCATTAAAGGGGGTGATTAT 0.448000 10 94 7.48243e-07 7.74044e-07 1 1 0 COL21A1 0 broad.mit.edu 37 6 56035897 56035897 + Missense_Mutation SNP C C A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr6:56035897C>A ENST00000244728.5 - 4 1067 c.670G>T c.(670-672)Gca>Tca p.A224S COL21A1_ENST00000370819.1_Missense_Mutation_p.A224S|COL21A1_ENST00000535941.1_Missense_Mutation_p.A224S NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 224 cell adhesion collagen|cytoplasm structural molecule activity p.A224S(2) breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCACGAGCTGCCACTGGAATT 0.318000 36 92 7.53189e-24 8.86105e-24 1 1 0 TTYH3 80727 broad.mit.edu 37 7 2698620 2698620 + Missense_Mutation SNP C C G TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr7:2698620C>G ENST00000258796.7 + 13 1676 c.1471C>G c.(1471-1473)Ctc>Gtc p.L491V TTYH3_ENST00000407643.1_Missense_Mutation_p.L459V|TTYH3_ENST00000403167.1_Missense_Mutation_p.L320V NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 491 chloride channel complex|plasma membrane chloride channel activity p.L491V(1) kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GAACACCCCACTCATTGGGCG 0.647000 16 175 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249334 52249334 + Missense_Mutation SNP C C A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr19:52249334C>A ENST00000595042.1 - 3 1055 c.914G>T c.(913-915)gGc>gTc p.G305V FPR1_ENST00000304748.4_Missense_Mutation_p.G305V NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 305 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity p.G305V(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GAAGTCCTGGCCCATGAAGAC 0.547000 26 86 7.92952e-12 8.81058e-12 1 1 0 GPR112 139378 broad.mit.edu 37 X 135431329 135431329 + Missense_Mutation SNP C C A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chrX:135431329C>A ENST00000394143.1 + 6 5755 c.5464C>A c.(5464-5466)Cca>Aca p.P1822T GPR112_ENST00000370652.1_Missense_Mutation_p.P1822T|GPR112_ENST00000412101.1_Missense_Mutation_p.P1617T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1759T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1617T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1822 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P1822T(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTCATACCCTCCATGGACCCC 0.408000 15 143 2.32078e-09 2.44293e-09 1 1 0 CHD2 1106 broad.mit.edu 37 15 93524064 93524064 + Missense_Mutation SNP G G C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr15:93524064G>C ENST00000394196.4 + 23 3964 c.2896G>C c.(2896-2898)Gaa>Caa p.E966Q CHD2_ENST00000557381.1_Missense_Mutation_p.E966Q NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 966 Glu-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding p.E966Q(2) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TTTTAATAAAGAAGAGCTGAC 0.368000 12 105 0 0 1 0 0 SMAD3 4088 broad.mit.edu 37 15 67477178 67477178 + Missense_Mutation SNP G G T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr15:67477178G>T ENST00000327367.4 + 7 1295 c.985G>T c.(985-987)Gcc>Tcc p.A329S SMAD3_ENST00000439724.3_Missense_Mutation_p.A285S|SMAD3_ENST00000540846.2_Missense_Mutation_p.A224S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A134S NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 329 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding p.A329S(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CTGGCACCCGGCCACCGTCTG 0.597000 7 36 5.18039e-06 5.26819e-06 1 1 0 CLCA2 9635 broad.mit.edu 37 1 86916415 86916415 + Splice_Site SNP C C T rs140158852 TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr1:86916415C>T ENST00000370565.4 + 12 2316 c.2155_splice c.e12+1 p.N718_splice CLCA2_ENST00000498802.1_3'UTR NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 718 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity p.N718N(1) NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) ACACAGCAAACGGTAAGAACC 0.448000 31 203 0 0 1 0 0 C12orf77 196415 broad.mit.edu 37 12 25148935 25148935 + Silent SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr12:25148935C>T ENST00000549828.1 - 3 417 c.213G>A c.(211-213)acG>acA p.T71T C12orf77_ENST00000434912.3_Silent_p.T16T|C12orf77_ENST00000549262.1_Silent_p.T16T NM_001101339.1 NP_001094809.1 C9JDV5 CL097_HUMAN chromosome 12 open reading frame 77 71 p.T71T(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 TGCTGTCCAGCGTCTGCACGT 0.478000 29 55 0 0 1 0 0 TTLL11 158135 broad.mit.edu 37 9 124752018 124752018 + Missense_Mutation SNP C C A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr9:124752018C>A ENST00000321582.5 - 4 1182 c.995G>T c.(994-996)tGg>tTg p.W332L TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.W332L NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 332 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity p.W332L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 AGTGGGCTTCCAGGAGGGGTC 0.512000 66 240 4.60868e-44 5.53042e-44 1 1 0 DNAH10 196385 broad.mit.edu 37 12 124395093 124395093 + Silent SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr12:124395093G>A ENST00000409039.3 + 58 9679 c.9654G>A c.(9652-9654)aaG>aaA p.K3218K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3218 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.K1810K(1)|p.K3218K(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCCTCTTGAAGACTCTTAATA 0.388000 12 219 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104552115 104552115 + Missense_Mutation SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr14:104552115G>A ENST00000551177.1 + 1 100 c.8G>A c.(7-9)cGc>cAc p.R3H ASPG_ENST00000546892.2_Missense_Mutation_p.R3H|ASPG_ENST00000455920.2_Missense_Mutation_p.R3H NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 3 lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity p.R3H(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 GGCATGGCGCGCGCGGTGGGG 0.761000 4 2 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634187 70634187 + Missense_Mutation SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr14:70634187C>T ENST00000381269.2 - 2 1706 c.953G>A c.(952-954)cGg>cAg p.R318Q SLC8A3_ENST00000356921.2_Missense_Mutation_p.R318Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R318Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R318Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R318Q NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 318 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding p.R318Q(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CTTGAGAATCCGGATCATCTC 0.483000 6 170 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85719250 85719250 + Missense_Mutation SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr4:85719250C>T ENST00000322366.6 - 18 3241 c.2834G>A c.(2833-2835)cGt>cAt p.R945H WDFY3_ENST00000295888.4_Missense_Mutation_p.R945H Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 945 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.R945H(1) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ACTTGCCAAACGTAAAAACTC 0.313000 60 145 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61864525 61864525 + Missense_Mutation SNP T T C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr17:61864525T>C ENST00000578681.1 + 3 717 c.116T>C c.(115-117)tTt>tCt p.F39S DDX42_ENST00000389924.2_Missense_Mutation_p.F39S|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.F39S|DDX42_ENST00000457800.2_Missense_Mutation_p.F39S NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 39 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.F39S(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 CACAGTGCCTTTGGGGCAACC 0.502000 15 222 0 0 1 0 0 NAGS 162417 broad.mit.edu 37 17 42085837 42085837 + Silent SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr17:42085837C>T ENST00000293404.3 + 7 1591 c.1473C>T c.(1471-1473)ggC>ggT p.G491G NM_153006.2 NP_694551.1 Q8N159 NAGS_HUMAN N-acetylglutamate synthase 491 N-acetyltransferase. arginine biosynthetic process|urea cycle mitochondrial matrix acetyl-CoA:L-glutamate N-acetyltransferase activity p.G491G(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 Breast(137;0.00536)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) L-Glutamic Acid(DB00142) ACAGTGATGGCAGCTTCTCCA 0.498000 27 320 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185880818 185880818 + Missense_Mutation SNP A A C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr1:185880818A>C ENST00000271588.4 + 6 1035 c.806A>C c.(805-807)aAa>aCa p.K269T HMCN1_ENST00000367492.2_Missense_Mutation_p.K269T NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 269 response to stimulus|visual perception basement membrane calcium ion binding p.K269T(1) 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 AAGCTGATAAAAAAGGGATTT 0.393000 24 389 0 0 1 0 0 XXbac-BPG308J9.3 0 broad.mit.edu 37 6 29231318 29231318 + RNA SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr6:29231318G>A ENST00000441381.1 + 0 79 p.S180F(1) GACCATTGCAGATATTTCACA 0.433000 48 118 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31477560 31477560 + Splice_Site SNP G G T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr6:31477560G>T ENST00000252229.6 + 6 1105 c.1024_splice c.e6-1 p.E342_splice MICB_ENST00000538442.1_Splice_Site_p.E310_splice|MICB_ENST00000399150.3_Splice_Site_p.E299_splice NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 342 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding p.E342D(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 CTTCTCCAGAGCTTGTGAGCC 0.522000 30 136 7.01153e-11 7.51236e-11 1 1 0 CYP26B1 56603 broad.mit.edu 37 2 72359460 72359460 + Missense_Mutation SNP C C T rs148075682 TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr2:72359460C>T ENST00000001146.2 - 6 1638 c.1435G>A c.(1435-1437)Gtc>Atc p.V479I CYP26B1_ENST00000412253.1_Missense_Mutation_p.V288I|CYP26B1_ENST00000546307.1_Missense_Mutation_p.V404I NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 479 V -> I. cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding p.V479I(2) breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 GGGTGCAGGACGGGGACCAAG 0.642000 3 27 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215914419 215914419 + Missense_Mutation SNP G G T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr2:215914419G>T ENST00000272895.7 - 6 843 c.624C>A c.(622-624)aaC>aaA p.N208K NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 208 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.N208K(1) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGCAAAATTTGTTAAAAACAT 0.383000 28 103 2.48779e-11 2.71396e-11 1 1 0 TYRO3 7301 broad.mit.edu 37 15 41860444 41860444 + Missense_Mutation SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr15:41860444G>A ENST00000263798.3 + 8 1215 c.991G>A c.(991-993)Gcc>Acc p.A331T TYRO3_ENST00000559066.1_Missense_Mutation_p.A286T NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 331 Fibronectin type-III 2. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.A331T(1)|p.A323T(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) AAACCTCCATGCCATCCGCAC 0.572000 17 74 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151845693 151845693 + Missense_Mutation SNP T T C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr7:151845693T>C ENST00000355193.2 - 53 13708 c.13490A>G c.(13489-13491)tAt>tGt p.Y4497C KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C lysine (K)-specific methyltransferase 2C p.Y4497C(1)|p.Y4440C(1) CTGAGTCTCATAGACCTCCGT 0.507000 70 195 0 0 1 0 0 SMARCE1 6605 broad.mit.edu 37 17 38792754 38792754 + Missense_Mutation SNP T T C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr17:38792754T>C ENST00000348513.6 - 6 1042 c.262A>G c.(262-264)Aac>Gac p.N88D SMARCE1_ENST00000580419.1_Missense_Mutation_p.N53D|SMARCE1_ENST00000431889.2_Missense_Mutation_p.N70D|SMARCE1_ENST00000544009.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000578044.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000400122.3_Missense_Mutation_p.N18D|SMARCE1_ENST00000377808.4_Missense_Mutation_p.N53D|KRT222_ENST00000476049.1_3'UTR NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 88 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity p.N88D(1) large_intestine(1) 1 Breast(137;0.000812) AGGTCAGGGTTGGAAGCCTTT 0.363000 68 179 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19483619 19483619 + Missense_Mutation SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr5:19483619C>T ENST00000507958.1 - 14 2663 c.1673G>A c.(1672-1674)cGa>cAa p.R558Q CDH18_ENST00000274170.4_Missense_Mutation_p.R558Q|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.R558Q Q13634 CAD18_HUMAN cadherin 18, type 2 558 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R558L(2)|p.R558Q(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTGAACAGTTCGACTAAATCT 0.458000 20 81 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211421556 211421556 + Silent SNP A A G TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr2:211421556A>G ENST00000233072.5 + 1 295 c.99A>G c.(97-99)agA>agG p.R33R CPS1_ENST00000430249.2_Silent_p.R39R NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 33 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.R33R(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AATTTTCAAGACCTGGCATCA 0.403000 13 235 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54591238 54591238 + Silent SNP G G A rs149456946 byFrequency TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr18:54591238G>A ENST00000254442.3 + 22 3823 c.3612G>A c.(3610-3612)ctG>ctA p.L1204L WDR7_ENST00000357574.3_Silent_p.L1171L|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1204 p.L1204L(1) NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) CCATTGATCTGATTGGACGTG 0.498000 10 122 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121303769 121303769 + Missense_Mutation SNP C C T rs149102809 TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr3:121303769C>T ENST00000334384.3 + 3 236 c.226C>T c.(226-228)Cgg>Tgg p.R76W NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 76 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R76W(1) kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) TGAAGCAATACGGAGAAGGCA 0.423000 111 338 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151105861 151105861 + Missense_Mutation SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr1:151105861C>T ENST00000341697.3 - 19 3583 c.1892G>A c.(1891-1893)cGc>cAc p.R631H Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 631 integral to membrane receptor activity p.R631H(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCGGTGGGCGCGGCGACAAGC 0.716000 3 24 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160706545 160706545 + Silent SNP C C T rs114924959 byFrequency TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr2:160706545C>T ENST00000263636.4 - 23 3123 c.3096G>A c.(3094-3096)acG>acA p.T1032T LY75-CD302_ENST00000504764.1_Silent_p.T1032T|LY75_ENST00000553424.1_Silent_p.T1032T|LY75-CD302_ENST00000505052.1_Silent_p.T1032T|LY75_ENST00000554112.1_Silent_p.T1032T NM_002349.3 NP_002340.2 lymphocyte antigen 75 p.T1032T(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) AGTTACTGTACGTCAGCTCTC 0.383000 20 274 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54735357 54735357 + Missense_Mutation SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr6:54735357G>A ENST00000306858.7 + 2 429 c.313G>A c.(313-315)Gac>Aac p.D105N NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 105 p.D105N(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCCAAATCTTGACTTAGGCTG 0.463000 114 216 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161168 90161168 + RNA SNP T T G rs8055740 TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr16:90161168T>G ENST00000564451.1 + 0 894 TUBB8P7_ENST00000567960.1_RNA CCTCCTGTCCTCCGAGTCGAG 0.622000 4 1 0 0 1 0 0 TEAD3 7005 broad.mit.edu 37 6 35444194 35444194 + Missense_Mutation SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr6:35444194G>A ENST00000338863.7 - 9 838 c.611C>T c.(610-612)cCg>cTg p.P204L TEAD3_ENST00000402886.3_Missense_Mutation_p.P144L NM_003214.3 NP_003205.2 Q99594 TEAD3_HUMAN TEA domain family member 3 204 Pro-rich.|Transcriptional activation (Potential). female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.P241L(1)|p.P204L(1)|p.P241Q(1)|p.P204Q(1) central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 TGAGGGGAGCGGGGCCAGGGG 0.607000 12 164 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3138037 3138037 + Missense_Mutation SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr4:3138037G>A ENST00000355072.5 + 21 2927 c.2782G>A c.(2782-2784)Gca>Aca p.A928T NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 928 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding p.A928T(1) breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) ACATGTTGCCGCAGCATCACT 0.378000 5 105 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51223295 51223295 + Missense_Mutation SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr14:51223295C>T ENST00000245441.5 - 18 4643 c.4453G>A c.(4453-4455)Gga>Aga p.G1485R NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.G1485R|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.G1485R|NIN_ENST00000382041.3_Missense_Mutation_p.G1485R|NIN_ENST00000530997.2_Missense_Mutation_p.G1485R NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1485 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding p.G1491R(1)|p.G1485R(1) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) tccttttctccgtgagaaagt 0.413000 T PDGFRB MPD 4 59 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846113 18846113 + RNA SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr22:18846113C>T ENST00000412938.1 + 0 3471 ATCTCCTCCACGCACTGGCGC 0.612000 4 39 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125660643 125660643 + Missense_Mutation SNP T T A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr2:125660643T>A ENST00000431078.1 + 22 3982 c.3618T>A c.(3616-3618)gaT>gaA p.D1206E NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1206 cell adhesion|signal transduction integral to membrane receptor binding p.D1206E(2) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGACTCAGATGTGAATGCAG 0.532000 15 15 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32975445 32975445 + Missense_Mutation SNP T T C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr12:32975445T>C ENST00000340811.4 - 8 1903 c.1795A>G c.(1795-1797)Aaa>Gaa p.K599E PKP2_ENST00000070846.6_Missense_Mutation_p.K643E NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 643 cell-cell adhesion desmosome|integral to membrane|nucleus binding p.K643E(1) NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CCAATACTTTTGTTGTTGTCA 0.403000 11 125 0 0 1 0 0 ARHGEF39 84904 broad.mit.edu 37 9 35662635 35662635 + Silent SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr9:35662635C>T ENST00000378387.3 - 7 894 c.777G>A c.(775-777)aaG>aaA p.K259K ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Silent_p.K223K NM_032818.2 NP_116207.2 Rho guanine nucleotide exchange factor (GEF) 39 p.K259K(1) GAGGCCGAGGCTTGGCCATGA 0.632000 20 23 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486051 94486051 + Missense_Mutation SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr9:94486051C>T ENST00000375708.3 - 9 2923 c.2725G>A c.(2725-2727)Gtg>Atg p.V909M ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 909 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.V909M(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCTTCCTGCACGGTGCTCTGG 0.637000 39 185 0 0 1 0 0 EED 8726 broad.mit.edu 37 11 85968564 85968564 + Missense_Mutation SNP T T G TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr11:85968564T>G ENST00000263360.6 + 6 1246 c.560T>G c.(559-561)gTt>gGt p.V187G EED_ENST00000528180.1_Missense_Mutation_p.V187G|EED_ENST00000351625.6_Missense_Mutation_p.V187G|EED_ENST00000327320.4_Missense_Mutation_p.V187G NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 187 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding p.V187G(1) haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) TAGCACTATGTTGGCCATGGA 0.303000 4 90 0 0 1 0 0 C1orf174 339448 broad.mit.edu 37 1 3807511 3807511 + Silent SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr1:3807511G>A ENST00000361605.3 - 3 338 c.240C>T c.(238-240)agC>agT p.S80S C1orf174_ENST00000486765.1_5'UTR NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 80 p.S80S(1) endometrium(1)|large_intestine(5)|lung(4)|prostate(1) 11 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19) GCAAAGAAGCGCTGTCATTCT 0.498000 71 144 0 0 1 0 0 SSSCA1 10534 broad.mit.edu 37 11 65339161 65339161 + Missense_Mutation SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr11:65339161G>A ENST00000531405.1 + 3 681 c.445G>A c.(445-447)Gca>Aca p.A149T SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000309328.3_Missense_Mutation_p.A186T|SSSCA1_ENST00000526877.1_3'UTR O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 186 cell division|mitosis protein binding p.A186T(1) kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 CCTTATCCGCGCATGTGCGGA 0.572000 3 48 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17949669 17949669 + Splice_Site SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr1:17949669C>T ENST00000361221.3 + 12 1358 c.1200_splice c.e12+1 p.S400_splice ARHGEF10L_ENST00000452522.1_Splice_Site_p.S361_splice|ARHGEF10L_ENST00000375420.3_Splice_Site_p.S158_splice|ARHGEF10L_ENST00000375415.1_Splice_Site_p.S361_splice|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Splice_Site_p.S178_splice|ARHGEF10L_ENST00000167825.4_Splice_Site_p.S178_splice|ARHGEF10L_ENST00000434513.1_Splice_Site_p.S400_splice NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 400 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.S400L(3) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TTCGTGGCCTCGGTAAGTGTC 0.602000 30 71 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22662995 22662995 + RNA SNP C C T rs79792109 by1000genomes TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr22:22662995C>T ENST00000426066.1 + 0 500 NR_027293.1 TTTATTGTGTCACATAGAATT 0.348000 4 30 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42762561 42762561 + Missense_Mutation SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr21:42762561G>A ENST00000330714.3 + 6 986 c.802G>A c.(802-804)Gtg>Atg p.V268M MX2_ENST00000543692.1_Intron NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 268 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity p.V268M(1) breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TCCCTGTAACGTGGACATTGC 0.557000 78 78 0 0 1 0 0 ARHGEF39 84904 broad.mit.edu 37 9 35662634 35662634 + Missense_Mutation SNP G G T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr9:35662634G>T ENST00000378387.3 - 7 895 c.778C>A c.(778-780)Cct>Act p.P260T ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P224T NM_032818.2 NP_116207.2 Rho guanine nucleotide exchange factor (GEF) 39 p.P260T(1) GGAGGCCGAGGCTTGGCCATG 0.632000 21 23 2.37509e-13 2.68878e-13 1 1 0 MKI67 4288 broad.mit.edu 37 10 129900972 129900972 + Silent SNP G G C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr10:129900972G>C ENST00000368654.3 - 13 9507 c.9132C>G c.(9130-9132)ccC>ccG p.P3044P MKI67_ENST00000368653.3_Silent_p.P2684P NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 3044 cell proliferation nucleolus ATP binding|protein C-terminus binding p.P3044P(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGATGACCACGGGTTCGGATG 0.517000 10 296 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73627745 73627745 + Silent SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr17:73627745G>A ENST00000317905.5 - 9 1392 c.1233C>T c.(1231-1233)tgC>tgT p.C411C RECQL5_ENST00000423245.2_Silent_p.C384C|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 411 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding p.C384C(1) breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CGGCATGGCGGCACCTGGAGC 0.692000 Other identified genes with known or suspected DNA repair function 3 38 0 0 1 0 0 RP4-655J12.5 0 broad.mit.edu 37 1 116972907 116972908 + RNA INS - - TTCT rs60102925 by1000genomes TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr1:116972907_116972908insTTCT ENST00000449303.2 - 0 283 tttctttctccttctttctttc 0.411 2 4 --- --- --- --- PLAU 5328 broad.mit.edu 37 10 75673298 75673298 + Splice_Site DEL A A - TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr10:75673298delA ENST00000446342.1 + 6 893 c.409_splice c.e6-1 p.G137_splice PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 154 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) GTCCTCCAGGAAAAAAGCCCT 0.517 7 790 --- --- --- --- SLC22A20 0 broad.mit.edu 37 11 64997532 64997532 + RNA DEL T T - rs150430504 by1000genomes TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr11:64997532delT ENST00000525437.1 + 0 1081 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 ccttccttcctttccttcctt 0.388 3 6 --- --- --- --- ARHGAP11A 9824 broad.mit.edu 37 15 32920998 32921007 + Splice_Site DEL GAATTGGTAG GAATTGGTAG - TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr15:32920998_32921007delGAATTGGTAG ENST00000361627.3 + 7 1654_1659 c.937_splice c.e7+1 p.S311_splice ARHGAP11A_ENST00000563864.1_Splice_Site_p.S311_splice|ARHGAP11A_ENST00000543522.1_Splice_Site_p.S122_splice|ARHGAP11A_ENST00000567348.1_Splice_Site_p.S311_splice|ARHGAP11A_ENST00000565905.1_Splice_Site_p.S122_splice NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 311 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.A313P(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CAAGAAGAAAGAATTGGTAGGTATTTATTA 0.238 13 141 --- --- --- --- ATP8B4 79895 broad.mit.edu 37 15 50193367 50193368 + Frame_Shift_Ins INS - - T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr15:50193367_50193368insT ENST00000284509.6 - 21 2351_2352 c.2210_2211insA c.(2209-2211)acafs p.T737fs ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.T737fs NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 737 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCAGCTGCTGCTTTTTTTCACA 0.361 7 177 --- --- --- --- ZNF99 7652 broad.mit.edu 37 19 22940066 22940066 + Frame_Shift_Del DEL A A - TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr19:22940066delA ENST00000397104.3 - 6 2264 c.2265delT c.(2263-2265)ttfs p.F755fs zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGGAATTGTTAAAAGCTTTGC 0.358 31 156 --- --- --- --- LL22NC03-86D4.1 0 broad.mit.edu 37 22 34492089 34492090 + RNA INS - - T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr22:34492089_34492090insT ENST00000412218.1 + 0 114 ctgccttgctgtttTTTTTTGT 0.366 2 4 --- --- --- ---