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 IGHG2 3501 broad.mit.edu 37 14 106110981 106110981 + RNA SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr14:106110981G>A ENST00000390545.2 - 0 146 AGGTGTGCACGCCGCTGGTCA 0.647000 10 29 0 0 0.069234 0 0 PCDHA8 56140 broad.mit.edu 37 5 140220964 140220964 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr5:140220964C>T ENST00000531613.1 + 1 58 c.58C>T c.(58-60)Ctc>Ttc p.L20F PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.L20F NM_018911.2 NP_061734.1 p.L20F(1) NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGCTTCTGCTCCTCGCAGC 0.547000 13 85 0 0 0.093190 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971000 21971000 + Nonsense_Mutation SNP C C A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr9:21971000C>A ENST00000304494.5 - 2 628 c.358G>T c.(358-360)Gag>Tag p.E120* CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 120 E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGGCCCAGCTCCTCAGCCAGG 0.726000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 21 0.00829132 0.00892371 0.069234 1 0 CASP8 841 broad.mit.edu 37 2 202131241 202131241 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr2:202131241G>A ENST00000358485.4 + 2 405 c.209G>A c.(208-210)gGg>gAg p.G70E CASP8_ENST00000392259.2_Missense_Mutation_p.G11E|CASP8_ENST00000432109.2_Missense_Mutation_p.G11E|CASP8_ENST00000392258.3_Missense_Mutation_p.G11E|CASP8_ENST00000323492.7_Missense_Mutation_p.G11E|CASP8_ENST00000392266.3_Missense_Mutation_p.G11E|CASP8_ENST00000264274.9_Missense_Mutation_p.G11E|CASP8_ENST00000264275.5_Missense_Mutation_p.G11E NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 11 DED 1. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TATGATATTGGGGAACAACTG 0.398000 HNSCC(4;0.00038) 15 51 0 0 0.043863 0 0 CCDC14 64770 broad.mit.edu 37 3 123665761 123665761 + Missense_Mutation SNP T T C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr3:123665761T>C ENST00000485727.1 - 4 5226 c.634A>G c.(634-636)Aca>Gca p.T212A CCDC14_ENST00000489746.1_Missense_Mutation_p.T212A|CCDC14_ENST00000488653.2_Missense_Mutation_p.T412A|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Missense_Mutation_p.T371A|CCDC14_ENST00000310351.4_Missense_Mutation_p.T252A Q49A88 CCD14_HUMAN coiled-coil domain containing 14 412 centrosome NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) ACTGTTTTTGTATCTCGCACA 0.383000 31 104 0 0 0.037714 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496622 20496622 + RNA SNP A A T rs2601530 by1000genomes TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr15:20496622A>T ENST00000555186.1 + 0 675 NR_038836.1 AAGTGGCCTCATGAAGGGGAA 0.438000 3 34 0 0 0.009096 0 0 LGMN 5641 broad.mit.edu 37 14 93172970 93172970 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr14:93172970C>T ENST00000393218.2 - 13 1386 c.1049G>A c.(1048-1050)cGt>cAt p.R350H LGMN_ENST00000555699.1_Intron|LGMN_ENST00000334869.4_Missense_Mutation_p.R350H|LGMN_ENST00000557434.1_Intron NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 350 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) GACGATCTTACGCACTGACTT 0.637000 13 32 0 0 0.020292 0 0 GCM2 9247 broad.mit.edu 37 6 10877388 10877388 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr6:10877388G>A ENST00000379491.4 - 2 475 c.328C>T c.(328-330)Cgg>Tgg p.R110W SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 110 R -> W (in FIH; abolishes DNA binding ability). cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TGTTTCAGCCGTGCCTTGTCG 0.562000 15 81 0 0 0.049695 0 0 LMCD1 29995 broad.mit.edu 37 3 8609159 8609159 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr3:8609159G>A ENST00000157600.3 + 6 1205 c.973G>A c.(973-975)Gat>Aat p.D325N LMCD1_ENST00000397386.3_Missense_Mutation_p.D213N|LMCD1_ENST00000454244.1_Missense_Mutation_p.D252N|LMCD1-AS1_ENST00000439407.1_RNA NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 325 LIM zinc-binding 2. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) GCGTGTGGAAGATCTGGCCTG 0.552000 51 248 0 0 0.048971 0 0 MUC16 94025 broad.mit.edu 37 19 9000504 9000504 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr19:9000504C>T ENST00000397910.4 - 54 40683 c.40480G>A c.(40480-40482)Gag>Aag p.E13494K MUC16_ENST00000380951.5_Missense_Mutation_p.E135K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13496 SEA 10. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 TGCATGTTCTCCTCATACCGC 0.478000 11 48 0 0 0.069234 0 0 CCDC13 152206 broad.mit.edu 37 3 42799629 42799629 + Missense_Mutation SNP C C A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr3:42799629C>A ENST00000310232.6 - 2 292 c.209G>T c.(208-210)aGc>aTc p.S70I CCDC13_ENST00000435327.2_5'UTR NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 70 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 CTTCTCAAAGCTATTTTTCGA 0.498000 8 41 5.4927e-09 6.51938e-09 0.047766 1 0 APPL2 55198 broad.mit.edu 37 12 105597508 105597508 + Missense_Mutation SNP A A G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr12:105597508A>G ENST00000258530.3 - 9 902 c.677T>C c.(676-678)tTa>tCa p.L226S APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.L183S|APPL2_ENST00000551662.1_Missense_Mutation_p.L232S NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 226 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding p.L226S(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 AACGGAGGATAAAAAGCTGTC 0.433000 43 170 0 0 0.042209 0 0 MAGT1 84061 broad.mit.edu 37 X 77126359 77126359 + Missense_Mutation SNP G G C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chrX:77126359G>C ENST00000358075.6 - 3 518 c.432C>G c.(430-432)aaC>aaG p.N144K MAGT1_ENST00000373336.3_Missense_Mutation_p.N112K NM_032121.5 NP_115497.4 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 112 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex p.N112K(1) cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 AAAATATCCTGTTGGTGAATG 0.363000 15 26 0 0 0.033300 0 0 SLC28A3 64078 broad.mit.edu 37 9 86905135 86905135 + Silent SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr9:86905135G>A ENST00000376238.4 - 11 1132 c.1083C>T c.(1081-1083)caC>caT p.H361H SLC28A3_ENST00000537648.1_Silent_p.H292H NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 361 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TCATGATGGCGTGGAGTTCAG 0.463000 12 50 0 0 0.105934 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6107523 6107523 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr4:6107523G>A ENST00000409021.3 - 3 750 c.301C>T c.(301-303)Cgc>Tgc p.R101C JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R101C|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R101C|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 101 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTGGCGGTGCGCGCCGCCTCC 0.677000 4 17 0 0 0.009096 0 0 PDILT 204474 broad.mit.edu 37 16 20410538 20410538 + Missense_Mutation SNP A A G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr16:20410538A>G ENST00000302451.4 - 2 333 c.85T>C c.(85-87)Tcc>Ccc p.S29P NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 29 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TGGATGCTGGAAACACCGGCG 0.602000 25 109 0 0 0.037714 0 0 DKK3 27122 broad.mit.edu 37 11 11986065 11986065 + Silent SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:11986065C>T ENST00000396505.2 - 8 1237 c.999G>A c.(997-999)gcG>gcA p.A333A DKK3_ENST00000450094.2_Silent_p.A305A|DKK3_ENST00000525493.1_Silent_p.A347A|DKK3_ENST00000326932.4_Silent_p.A333A|DKK3_ENST00000527132.1_Intron NM_015881.5 NP_056965.3 Q9UBP4 DKK3_HUMAN dickkopf WNT signaling pathway inhibitor 3 333 adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) GCTCCCTCAGCGCCATCTCTT 0.577000 15 118 0 0 0.049695 0 0 CNTN5 53942 broad.mit.edu 37 11 99690283 99690283 + Missense_Mutation SNP A A G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:99690283A>G ENST00000524871.1 + 4 354 c.64A>G c.(64-66)Aaa>Gaa p.K22E CNTN5_ENST00000528682.1_Missense_Mutation_p.K22E|CNTN5_ENST00000279463.3_Missense_Mutation_p.K22E|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.K22E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 22 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGAGTATTCAAAATCTCTTCC 0.308000 3 67 0 0 0.009096 0 0 COL27A1 85301 broad.mit.edu 37 9 116930231 116930231 + Silent SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr9:116930231C>T ENST00000356083.3 + 3 787 c.396C>T c.(394-396)ccC>ccT p.P132P NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 132 Laminin G-like.|TSP N-terminal. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 AGTTCCTCCCCGGCAAGACGG 0.682000 26 69 0 0 0.030593 0 0 GPR20 2843 broad.mit.edu 37 8 142367698 142367698 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr8:142367698C>T ENST00000377741.3 - 2 416 c.326G>A c.(325-327)cGc>cAc p.R109H NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 109 integral to plasma membrane G-protein coupled receptor activity p.R109H(1) NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CACAGCGAAGCGCGTGGGCAG 0.617000 16 48 0 0 0.043863 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158692 26158692 + Missense_Mutation SNP G G C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr6:26158692G>C ENST00000289316.2 + 1 319 c.295G>C c.(295-297)Gtg>Ctg p.V99L HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.V99L NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 99 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 CCAGACGGCCGTGCGCCTGCT 0.617000 20 94 0 0 0.043863 0 0 GFRA3 2676 broad.mit.edu 37 5 137593489 137593489 + Silent SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr5:137593489G>A ENST00000274721.3 - 4 870 c.624C>T c.(622-624)gcC>gcT p.A208A GFRA3_ENST00000378362.3_Silent_p.A177A NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 208 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CGTGGGGCTCGGCGGCCTTCT 0.726000 11 33 0 0 0.069234 0 0 OAZ3 51686 broad.mit.edu 37 1 151740703 151740703 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr1:151740703G>A ENST00000321531.5 + 4 505 c.338G>A c.(337-339)cGg>cAg p.R113Q OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000479764.1_Intron|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000315067.8_Missense_Mutation_p.R113Q|OAZ3_ENST00000453029.2_Missense_Mutation_p.R126Q Q9UMX2 OAZ3_HUMAN ornithine decarboxylase antizyme 3 110 cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis cytosol|nucleus ornithine decarboxylase inhibitor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 9 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) L-Ornithine(DB00129) CAAGGCAACCGGGAAAGGTGA 0.522000 5 17 0 0 0.014758 0 0 ETV6 2120 broad.mit.edu 37 12 12022544 12022544 + Missense_Mutation SNP G G C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr12:12022544G>C ENST00000396373.4 + 5 924 c.650G>C c.(649-651)aGa>aCa p.R217T NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 217 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R217T(1) ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCGGCTGAGAGAGCTCAGGGA 0.632000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 18 95 0 0 0.055883 0 0 LMCD1 29995 broad.mit.edu 37 3 8609125 8609125 + Splice_Site SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr3:8609125G>A ENST00000157600.3 + 6 1171 c.e6-1 LMCD1_ENST00000397386.3_Splice_Site|LMCD1_ENST00000454244.1_Splice_Site|LMCD1-AS1_ENST00000439407.1_RNA NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) CCCCTCCCCAGATAATATTCG 0.532000 44 230 0 0 0.111260 0 0 OR4C15 81309 broad.mit.edu 37 11 55322467 55322467 + Missense_Mutation SNP C C A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:55322467C>A ENST00000314644.2 + 1 685 c.685C>A c.(685-687)Cac>Aac p.H229N NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TGTCATCAATCACTTTATGTG 0.468000 HNSCC(20;0.049) 11 33 3.86212e-05 4.22836e-05 0.069234 1 0 GRIN2A 2903 broad.mit.edu 37 16 10032166 10032166 + Silent SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr16:10032166C>T ENST00000396573.2 - 4 966 c.657G>A c.(655-657)ctG>ctA p.L219L GRIN2A_ENST00000404927.2_Silent_p.L219L|GRIN2A_ENST00000330684.3_Silent_p.L219L|GRIN2A_ENST00000562109.1_Silent_p.L219L|GRIN2A_ENST00000396575.2_Silent_p.L219L|GRIN2A_ENST00000535259.1_Silent_p.L62L|GRIN2A_ENST00000566670.1_5'UTR NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 219 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGATCTTCTTCAGCTGGACTT 0.507000 8 49 0 0 0.047766 0 0 ZNF529 57711 broad.mit.edu 37 19 37039185 37039185 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr19:37039185C>T ENST00000591340.1 - 5 433 c.275G>A c.(274-276)gGa>gAa p.G92E ZNF529_ENST00000334116.7_5'UTR NM_020951.4 NP_066002.3 Q6P280 ZN529_HUMAN zinc finger protein 529 59 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) AATATCTTTTCCTACAGATAA 0.343000 4 15 0 0 0.014758 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260048 44260048 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr18:44260048C>T ENST00000315087.7 - 7 1748 c.1088G>A c.(1087-1089)cGa>cAa p.R363Q ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R399Q|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R332Q|ST8SIA5_ENST00000590497.1_5'UTR NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 363 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane p.R363Q(1) kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GAGGATGCCTCGGCTGTGCAA 0.647000 17 55 0 0 0.038395 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 27 87 0 0 0.108266 0 0 AFF1 4299 broad.mit.edu 37 4 88035995 88035995 + Silent SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr4:88035995G>A ENST00000307808.6 + 11 2409 c.1989G>A c.(1987-1989)gtG>gtA p.V663V AFF1_ENST00000395146.4_Silent_p.V670V|AFF1_ENST00000544085.1_Silent_p.V301V NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 663 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AGCCAGCAGTGCCCCCCTCCA 0.607000 8 34 0 0 0.038147 0 0 CBX4 8535 broad.mit.edu 37 17 77807811 77807811 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr17:77807811C>T ENST00000269397.4 - 5 1807 c.1630G>A c.(1630-1632)Gac>Aac p.D544N NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 544 Interaction with RNF2. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GCGGTGACGTCGGTGATAATT 0.627000 22 65 0 0 0.069288 0 0 DENND5B 160518 broad.mit.edu 37 12 31613307 31613307 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr12:31613307G>A ENST00000389082.5 - 4 1177 c.913C>T c.(913-915)Cgc>Tgc p.R305C DENND5B_ENST00000536562.1_Missense_Mutation_p.R340C|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000306833.6_Missense_Mutation_p.R340C|DENND5B_ENST00000354285.4_Missense_Mutation_p.R327C NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 305 DENN. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GTCATCAGGCGTTGATAATCT 0.393000 7 28 0 0 0.038147 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 3 16 0 0 0.004672 0 0 FAM134C 162427 broad.mit.edu 37 17 40735595 40735595 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr17:40735595C>T ENST00000309428.5 - 7 790 c.731G>A c.(730-732)cGc>cAc p.R244H FAM134C_ENST00000585894.1_Missense_Mutation_p.R147H|FAM134C_ENST00000543197.1_Missense_Mutation_p.R49H NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 244 integral to membrane p.R244H(1) endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) AGCTCTGCGGCGTACTGTGGG 0.498000 10 27 0 0 0.058154 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769113 15769113 + Silent SNP T T C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr19:15769113T>C ENST00000221307.7 + 10 1203 c.1155T>C c.(1153-1155)atT>atC p.I385I CYP4F3_ENST00000586182.1_Silent_p.I385I|CYP4F3_ENST00000585846.1_Silent_p.I385I|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Silent_p.I385I NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 385 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CCATGTGCATTAAGGAGAGCC 0.597000 4 102 0 0 0.009096 0 0 MUC2 4583 broad.mit.edu 37 11 1097785 1097785 + Missense_Mutation SNP A A C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:1097785A>C ENST00000441003.2 + 36 6905 c.6878A>C c.(6877-6879)gAc>gCc p.D2293A MUC2_ENST00000361558.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4655 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CTGGTGAACGACCCCTCCAAG 0.657000 7 12 0 0 0.093190 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039612 184039612 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr3:184039612G>A ENST00000342981.4 + 9 1654 c.1240G>A c.(1240-1242)Gac>Aac p.D414N EIF4G1_ENST00000411531.1_Missense_Mutation_p.D374N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D421N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D414N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D218N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D327N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D250N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D421N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D374N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D250N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D327N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D218N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D421N|EIF4G1_ENST00000346169.2_Missense_Mutation_p.D414N NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 414 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.D414N(1) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACCAGCTGTGGACTTAAGCCC 0.632000 64 255 0 0 0.048971 0 0 TTF1 7270 broad.mit.edu 37 9 135277682 135277682 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr9:135277682G>A ENST00000334270.2 - 2 566 c.527C>T c.(526-528)gCa>gTa p.A176V NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 176 N-terminal region (NRD) (By similarity). negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding p.A176V(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CTCCCAGGATGCAGCTTTCCT 0.493000 16 31 0 0 0.028581 0 0 HSD17B11 51170 broad.mit.edu 37 4 88312141 88312141 + Missense_Mutation SNP G G T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr4:88312141G>T ENST00000358290.4 - 1 397 c.82C>A c.(82-84)Cct>Act p.P28T HSD17B11_ENST00000507286.1_Missense_Mutation_p.P28T NM_016245.3 NP_057329.2 Q8NBQ5 DHB11_HUMAN hydroxysteroid (17-beta) dehydrogenase 11 28 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) CTCCTCTTAGGAATAAAAAGC 0.468000 14 39 4.3838e-07 4.92693e-07 0.105934 1 0 RXRA 6256 broad.mit.edu 37 9 137328348 137328348 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr9:137328348G>A ENST00000540193.1 + 9 1909 c.986G>A c.(985-987)cGc>cAc p.R329H RXRA_ENST00000481739.1_Missense_Mutation_p.R426H|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 426 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding p.R426H(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CCGGCTCTGCGCTCCATCGGG 0.612000 27 71 0 0 0.037714 0 0 WDR44 54521 broad.mit.edu 37 X 117575441 117575441 + Missense_Mutation SNP C C G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chrX:117575441C>G ENST00000254029.3 + 15 2480 c.2085C>G c.(2083-2085)atC>atG p.I695M WDR44_ENST00000371822.5_Intron|WDR44_ENST00000371825.3_Missense_Mutation_p.I695M NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 695 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm p.I695M(2) breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 CAAAATTGATCACAGCTGCAA 0.378000 26 31 0 0 0.108266 0 0 DIDO1 11083 broad.mit.edu 37 20 61511734 61511734 + Silent SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr20:61511734G>A ENST00000266070.4 - 16 5899 c.5574C>T c.(5572-5574)gcC>gcT p.A1858A DIDO1_ENST00000395343.1_Silent_p.A1858A NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1858 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTTATACGGGGCGTCCTGGA 0.622000 20 79 0 0 0.055883 0 0 SLC5A4 6527 broad.mit.edu 37 22 32614659 32614659 + Missense_Mutation SNP C C T rs150790454 TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr22:32614659C>T ENST00000266086.4 - 15 1833 c.1822G>A c.(1822-1824)Ggt>Agt p.G608S RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 608 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTCTGCAAACCGCAGAACAAG 0.468000 9 59 0 0 0.069234 0 0 ARVCF 421 broad.mit.edu 37 22 19960526 19960526 + Silent SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr22:19960526G>A ENST00000263207.3 - 15 2763 c.2472C>T c.(2470-2472)caC>caT p.H824H ARVCF_ENST00000406522.1_Silent_p.H755H|ARVCF_ENST00000406259.1_Silent_p.H818H|ARVCF_ENST00000401994.1_Silent_p.H761H|ARVCF_ENST00000344269.3_Silent_p.H761H NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 824 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) TCTGCAGCACGTGTGACGCCG 0.672000 27 65 0 0 0.030593 0 0 MPP7 143098 broad.mit.edu 37 10 28413008 28413008 + Silent SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr10:28413008G>A ENST00000337532.5 - 9 843 c.567C>T c.(565-567)aaC>aaT p.N189N MPP7_ENST00000540098.1_Silent_p.N189N|MPP7_ENST00000375732.1_Silent_p.N189N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Silent_p.N189N|MPP7_ENST00000445954.2_Silent_p.N64N NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 189 PDZ. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 CTGGTATCCCGTTGACTTCCC 0.358000 8 78 0 0 0.038147 0 0 UTRN 7402 broad.mit.edu 37 6 145021235 145021235 + Silent SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr6:145021235G>A ENST00000367545.3 + 52 7665 c.7665G>A c.(7663-7665)gaG>gaA p.E2555E UTRN_ENST00000367526.4_Silent_p.E110E NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2555 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCCATTTGGAGGCCAGCGCTG 0.353000 9 47 0 0 0.080935 0 0 C7orf63 79846 broad.mit.edu 37 7 89915651 89915651 + Nonsense_Mutation SNP G G T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr7:89915651G>T ENST00000389297.4 + 14 1845 c.1594G>T c.(1594-1596)Gaa>Taa p.E532* C7orf63_ENST00000497910.1_Nonsense_Mutation_p.E514*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.E532* NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 532 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 CATTGTTTTGGAAATCCAGTC 0.348000 13 63 4.3838e-07 4.92693e-07 0.105934 1 0 HRAS 3265 broad.mit.edu 37 11 534288 534288 + Missense_Mutation SNP C C T rs104894230 TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:534288C>T ENST00000417302.1 - 2 222 c.35G>A c.(34-36)gGc>gAc p.G12D HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000451590.1_Missense_Mutation_p.G12D|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12V(252)|p.G12D(48)|p.G12A(9) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GCCCACACCGCCGGCGCCCAC 0.647000 G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 15 20 0 0 0.038395 0 0 IKBIP 121457 broad.mit.edu 37 12 99007411 99007411 + Silent SNP C C T rs142399666 by1000genomes TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr12:99007411C>T ENST00000342502.2 - 3 1416 c.1005G>A c.(1003-1005)gaG>gaA p.E335E IKBIP_ENST00000420861.1_Silent_p.E229E|IKBIP_ENST00000393042.3_3'UTR NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 335 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 TATCCTTAATCTCAGCTTGGA 0.308000 10 56 0 0 0.069234 0 0 C16orf78 123970 broad.mit.edu 37 16 49430551 49430551 + Silent SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr16:49430551C>T ENST00000299191.3 + 4 729 c.612C>T c.(610-612)acC>acT p.T204T NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 204 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 AGATGGAAACCATGAGGATGT 0.542000 5 28 0 0 0.014758 0 0 ZNF467 168544 broad.mit.edu 37 7 149461821 149461821 + Silent SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr7:149461821C>T ENST00000302017.3 - 5 2183 c.1770G>A c.(1768-1770)ccG>ccA p.P590P ZNF467_ENST00000484747.1_Intron NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 590 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGAGCGGGGGCGGCGCCACCT 0.701000 4 14 0 0 0.009096 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100520 27100520 + Missense_Mutation SNP G G T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr6:27100520G>T ENST00000607124.1 - 1 9 c.10C>A c.(10-12)Cca>Aca p.P4T HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.P4T|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.P4T P06899 H2B1J_HUMAN histone cluster 1, H2bj 4 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 GACTTCGCTGGCTCTGGCATA 0.527000 10 63 2.17888e-05 2.40624e-05 0.058154 1 0 TSSC2 650368 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 3 41 0 0 0.009096 0 0 WDR11 55717 broad.mit.edu 37 10 122622272 122622272 + Silent SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr10:122622272C>T ENST00000263461.6 + 5 798 c.552C>T c.(550-552)ttC>ttT p.F184F NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 184 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 GTATTGTTTTCATCTCAGACT 0.418000 39 133 0 0 0.111260 0 0 TRIM48 79097 broad.mit.edu 37 11 55032498 55032498 + Missense_Mutation SNP A A G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:55032498A>G ENST00000417545.2 + 2 253 c.167A>G c.(166-168)tAc>tGc p.Y56C NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 40 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CCCTGTTTCTACCTCAACTGG 0.458000 23 96 0 0 0.091800 0 0 TGFBR3 7049 broad.mit.edu 37 1 92161270 92161270 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr1:92161270G>A ENST00000212355.4 - 16 2861 c.2396C>T c.(2395-2397)gCa>gTa p.A799V TGFBR3_ENST00000525962.1_Missense_Mutation_p.A799V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A798V NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 799 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CGTCAGGAGTGCTCCGATCAC 0.473000 17 34 0 0 0.038395 0 0 PPP4R4 57718 broad.mit.edu 37 14 94674875 94674875 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr14:94674875C>T ENST00000304338.3 + 3 420 c.266C>T c.(265-267)aCg>aTg p.T89M PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 89 cytoplasm|protein serine/threonine phosphatase complex protein binding p.T89M(1) NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CCCACTGAGACGCTTCGGAGA 0.388000 4 10 0 0 0.009096 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553798 140553798 + Missense_Mutation SNP G G A rs137953621 TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr5:140553798G>A ENST00000231137.3 + 1 1556 c.1382G>A c.(1381-1383)cGt>cAt p.R461H NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 461 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTTTGTCCGTGAGAACAAC 0.607000 18 85 0 0 0.076483 0 0 COX7A2 1347 broad.mit.edu 37 6 75950913 75950913 + Silent SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr6:75950913C>T ENST00000370081.2 - 3 493 c.183G>A c.(181-183)ccG>ccA p.P61P COX7A2_ENST00000509698.1_Silent_p.P29P|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000370089.2_Silent_p.P61P|COX7A2_ENST00000472311.2_Silent_p.P29P|COX7A2_ENST00000230459.4_Silent_p.P29P P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) 29 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 TTTGCTTCTCCGGAACTTTAT 0.348000 30 143 0 0 0.064281 0 0 MEGF6 1953 broad.mit.edu 37 1 3428684 3428684 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr1:3428684C>T ENST00000356575.4 - 8 1088 c.862G>A c.(862-864)Gaa>Aaa p.E288K MEGF6_ENST00000294599.4_Missense_Mutation_p.E183K NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 288 EGF-like 5; calcium-binding (Potential). extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCGGCACATTCGTCCACATCT 0.647000 30 95 0 0 0.041601 0 0 SF1 7536 broad.mit.edu 37 11 64544069 64544069 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:64544069G>A ENST00000377390.3 - 2 398 c.61C>T c.(61-63)Cgc>Tgc p.R21C SF1_ENST00000433274.2_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.R146C|SF1_ENST00000227503.9_Missense_Mutation_p.R21C|SF1_ENST00000334944.5_Missense_Mutation_p.R21C|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000377394.3_Missense_Mutation_p.R21C NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 21 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 TGGTTCCAGCGGCTCCTCTTC 0.428000 8 68 0 0 0.038147 0 0 AP3B2 8120 broad.mit.edu 37 15 83331629 83331629 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr15:83331629G>A ENST00000261722.3 - 22 2800 c.2593C>T c.(2593-2595)Cgg>Tgg p.R865W AP3B2_ENST00000535348.1_Missense_Mutation_p.R833W|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R884W NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 865 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CCAGCTACCCGGTGCAGCAGC 0.607000 5 24 0 0 0.021553 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 40 0 0 0.009096 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41753277 41753277 + Silent SNP G G C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr22:41753277G>C ENST00000352645.4 + 23 3035 c.2778G>C c.(2776-2778)ctG>ctC p.L926L ZC3H7B_ENST00000351589.4_Silent_p.L926L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 942 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GCGAGGTGCTGAAGCAGAAGT 0.617000 13 88 0 0 0.020292 0 0 ST5 6764 broad.mit.edu 37 11 8772184 8772184 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:8772184G>A ENST00000534127.1 - 5 449 c.64C>T c.(64-66)Cgg>Tgg p.R22W ST5_ENST00000530438.1_Missense_Mutation_p.R22W|ST5_ENST00000357665.1_Missense_Mutation_p.R22W|ST5_ENST00000526757.1_Missense_Mutation_p.R22W|ST5_ENST00000313726.6_Missense_Mutation_p.R22W NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 22 positive regulation of ERK1 and ERK2 cascade protein binding p.R22W(1) NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) AGAGTCCCCCGAGGGGCTTTA 0.552000 117 191 0 0 0.048971 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204210594 204210594 + Missense_Mutation SNP G G C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr1:204210594G>C ENST00000272203.3 - 17 2634 c.2318C>G c.(2317-2319)cCt>cGt p.P773R PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P793R NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 773 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TTTTGTCCGAGGGGGCACAAC 0.572000 3 15 0 0 0.004672 0 0 CCDC8 83987 broad.mit.edu 37 19 46914919 46914919 + Missense_Mutation SNP G G C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr19:46914919G>C ENST00000307522.3 - 1 1922 c.1149C>G c.(1147-1149)caC>caG p.H383Q NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 383 H -> Y (in dbSNP:rs34186470). plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CCTCTTCCCTGTGGTTATCTG 0.582000 42 136 0 0 0.111260 0 0 FAM43A 131583 broad.mit.edu 37 3 194407683 194407683 + Missense_Mutation SNP C C A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr3:194407683C>A ENST00000329759.4 + 1 1062 c.128C>A c.(127-129)cCc>cAc p.P43H NM_153690.4 NP_710157.2 Q8N2R8 FA43A_HUMAN family with sequence similarity 43, member A 43 breast(2)|central_nervous_system(1)|lung(6)|skin(1) 10 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) CGGGCGTGCCCCGAAGGCGCG 0.687000 7 18 0.0293803 0.0308372 0.029380 1 0 SRPK2 6733 broad.mit.edu 37 7 104801043 104801043 + Nonsense_Mutation SNP C C A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr7:104801043C>A ENST00000357311.3 - 6 670 c.499G>T c.(499-501)Gaa>Taa p.E167* SRPK2_ENST00000393651.3_Nonsense_Mutation_p.E178*|SRPK2_ENST00000489828.1_Nonsense_Mutation_p.E167* NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 167 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.E167*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 CCAAGTACTTCGAAGACCATG 0.473000 9 26 1.76689e-08 2.07774e-08 0.058154 1 0 KDM3B 51780 broad.mit.edu 37 5 137762666 137762666 + Nonsense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr5:137762666C>T ENST00000314358.5 + 18 4614 c.4414C>T c.(4414-4416)Cga>Tga p.R1472* KDM3B_ENST00000542866.1_Nonsense_Mutation_p.R504*|KDM3B_ENST00000394866.1_Nonsense_Mutation_p.R1128* NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1472 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TCTTCCAGAACGACTACGGTC 0.463000 8 28 0 0 0.047766 0 0 KSR2 283455 broad.mit.edu 37 12 117914339 117914339 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr12:117914339G>A ENST00000425217.1 - 17 2479 c.2425C>T c.(2425-2427)Cgc>Tgc p.R809C KSR2_ENST00000339824.5_Missense_Mutation_p.R838C|KSR2_ENST00000302438.5_3'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 838 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACAGCTGGCGGATGATCTCT 0.582000 7 7 0 0 0.038147 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) 9 25 0 0 0.047766 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481176 95481176 + RNA SNP G G C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr2:95481176G>C ENST00000432432.2 - 0 2184 NR_040113.1 AGTTTCTAAAGCCAATGACTT 0.328000 17 100 0 0 0.033300 0 0 DDX54 79039 broad.mit.edu 37 12 113599136 113599136 + Missense_Mutation SNP T T G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr12:113599136T>G ENST00000314045.7 - 19 2379 c.2352A>C c.(2350-2352)gaA>gaC p.E784D DDX54_ENST00000306014.5_Missense_Mutation_p.E784D|DDX54_ENST00000549271.1_5'UTR NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 784 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ATGCCCCTTCTTCGTCCGAGT 0.577000 10 51 0 0 0.080935 0 0 NUP160 23279 broad.mit.edu 37 11 47833636 47833636 + Silent SNP A A G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:47833636A>G ENST00000378460.2 - 17 2267 c.2221T>C c.(2221-2223)Tta>Cta p.L741L NUP160_ENST00000528071.1_Silent_p.L627L|NUP160_ENST00000528501.1_3'UTR|NUP160_ENST00000530326.1_Silent_p.L627L NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 741 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 AGCCTCATTAACAGCTGCTGT 0.433000 5 42 0 0 0.014758 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 3 21 0 0 0.004672 0 0 AGBL2 79841 broad.mit.edu 37 11 47707594 47707594 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:47707594C>T ENST00000525123.1 - 11 1924 c.1639G>A c.(1639-1641)Gaa>Aaa p.E547K AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.E509K|AGBL2_ENST00000298861.4_Missense_Mutation_p.E547K|AGBL2_ENST00000357610.3_Missense_Mutation_p.E547K NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 547 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TCTCTTTCTTCAAGAAGTCTA 0.383000 14 38 0 0 0.024245 0 0 ISLR2 57611 broad.mit.edu 37 15 74425583 74425583 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr15:74425583C>T ENST00000361742.3 + 4 1257 c.488C>T c.(487-489)gCg>gTg p.A163V ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.A163V|ISLR2_ENST00000445793.1_Missense_Mutation_p.A163V|ISLR2_ENST00000435464.1_Missense_Mutation_p.A163V|ISLR2_ENST00000419208.1_Missense_Mutation_p.A163V|ISLR2_ENST00000565540.1_Missense_Mutation_p.A163V|ISLR2_ENST00000565159.1_Missense_Mutation_p.A163V NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 163 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 CGTACGCTGGCGCCTGGCACC 0.652000 22 95 0 0 0.076483 0 0 ZNF614 80110 broad.mit.edu 37 19 52519599 52519599 + Nonsense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr19:52519599G>A ENST00000270649.6 - 5 1796 c.1252C>T c.(1252-1254)Cag>Tag p.Q418* ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q418*(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TGAGTTCGCTGATGTATAACG 0.423000 38 144 0 0 0.092188 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413214 139413214 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr9:139413214C>T ENST00000277541.6 - 6 1003 c.928G>A c.(928-930)Ggg>Agg p.G310R NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 310 EGF-like 8; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.G310R(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGGCAGGTCCCGCCGTTCTGG 0.627000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 17 0 0 0.058154 0 0 DNAH2 146754 broad.mit.edu 37 17 7673916 7673916 + Silent SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr17:7673916C>T ENST00000572933.1 + 26 5600 c.4140C>T c.(4138-4140)ctC>ctT p.L1380L DNAH2_ENST00000389173.2_Silent_p.L1380L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1380 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGACTCAGCTCGACATAGTAC 0.542000 13 53 0 0 0.020292 0 0 ATP10A 57194 broad.mit.edu 37 15 25961901 25961901 + Silent SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr15:25961901C>T ENST00000356865.6 - 9 1863 c.1752G>A c.(1750-1752)acG>acA p.T584T NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 584 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) GATCCGGGGACGTGACGACGA 0.592000 13 86 0 0 0.105934 0 0 FLG 2312 broad.mit.edu 37 1 152281685 152281685 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr1:152281685C>T ENST00000368799.1 - 3 5712 c.5677G>A c.(5677-5679)Gac>Aac p.D1893N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1893 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTAGAGCTGTCGGCCCGAGAG 0.572000 Ichthyosis 56 235 0 0 0.048971 0 0 CLVS2 134829 broad.mit.edu 37 6 123332281 123332281 + Nonsense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr6:123332281C>T ENST00000275162.4 + 3 1876 c.541C>T c.(541-543)Cga>Tga p.R181* CLVS2_ENST00000368438.1_Nonsense_Mutation_p.R35* NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 181 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.R181*(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 AAGTATGCTGCGATTAGCTAT 0.393000 9 54 0 0 0.069234 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 4 62 1.024e-07 1.1931e-07 0.014758 1 0 PTPRA 5786 broad.mit.edu 37 20 2969023 2969023 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr20:2969023C>T ENST00000216877.6 + 8 1014 c.614C>T c.(613-615)aCc>aTc p.T205I PTPRA_ENST00000318266.5_Missense_Mutation_p.T205I|PTPRA_ENST00000380393.3_Missense_Mutation_p.T214I|PTPRA_ENST00000358719.4_Missense_Mutation_p.T70I|PTPRA_ENST00000425918.2_Missense_Mutation_p.T225I|PTPRA_ENST00000356147.3_Missense_Mutation_p.T205I|PTPRA_ENST00000399903.2_Missense_Mutation_p.T214I NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 214 axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.T214I(1) NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TCCCCAAGCACCAACAGGAAA 0.547000 15 56 0 0 0.024245 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr3:178916944A>G ENST00000263967.3 + 2 488 c.331A>G c.(331-333)Aag>Gag p.K111E NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 111 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.K111E(13)|p.K111_L113delKIL(2) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCGTGAAGAAAAGATCCTCAA 0.333000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 23 64 0 0 0.083992 0 0 NTSR2 23620 broad.mit.edu 37 2 11802096 11802096 + Missense_Mutation SNP G G A rs145680805 TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr2:11802096G>A ENST00000306928.5 - 2 929 c.895C>T c.(895-897)Ctc>Ttc p.L299F NM_012344.3 NP_036476.1 O95665 NTR2_HUMAN neurotensin receptor 2 299 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) ACTTAACTGAGAACCTGGACG 0.577000 20 89 0 0 0.049695 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11154 11154 + Missense_Mutation SNP T T C TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chrM:11154T>C ENST00000361381.2 + 1 395 c.395T>C c.(394-396)aTc>aCc p.132_132insT mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CACCTTGGCTATCATCACCCG 0.443000 2 0 0 0 0.004672 0 0 ADAM21 8747 broad.mit.edu 37 14 70924430 70924430 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr14:70924430C>T ENST00000603540.1 + 2 472 c.214C>T c.(214-216)Cac>Tac p.H72Y ADAM21_ENST00000267499.3_Missense_Mutation_p.H72Y|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 72 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GGGCCAGAAACACGTTGTTCA 0.527000 15 109 0 0 0.043863 0 0 TDRD3 81550 broad.mit.edu 37 13 61084005 61084005 + Missense_Mutation SNP C C G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr13:61084005C>G ENST00000196169.3 + 9 1476 c.688C>G c.(688-690)Ctt>Gtt p.L230V TDRD3_ENST00000377881.2_Missense_Mutation_p.L230V|TDRD3_ENST00000535286.1_Missense_Mutation_p.L323V|TDRD3_ENST00000377894.2_Missense_Mutation_p.L230V NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 230 UBA. chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity p.L230V(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) ACTGAACGTACTTCTTACAAG 0.408000 18 76 0 0 0.055883 0 0 OAZ1 4946 broad.mit.edu 37 19 2271954 2271954 + Splice_Site SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr19:2271954G>A ENST00000583542.3 + 4 543 c.e4+1 OAZ1_ENST00000602676.1_Splice_Site|OAZ1_ENST00000582888.3_Splice_Site|OAZ1_ENST00000322297.4_Splice_Site|OAZ1_ENST00000592727.1_Splice_Site P54368 OAZ1_HUMAN ornithine decarboxylase antizyme 1 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol ornithine decarboxylase inhibitor activity endometrium(1)|lung(2) 3 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) L-Ornithine(DB00129) GCAAGGACAGGTGAGGGGCAA 0.667000 5 12 0 0 0.021553 0 0 PKHD1 5314 broad.mit.edu 37 6 51907774 51907774 + Missense_Mutation SNP G G A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr6:51907774G>A ENST00000371117.3 - 27 3255 c.2980C>T c.(2980-2982)Cgg>Tgg p.R994W PKHD1_ENST00000340994.4_Missense_Mutation_p.R994W NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 994 IPT/TIG 4. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.R994W(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ATCAAGATCCGATGCATTCCA 0.453000 17 63 0 0 0.043863 0 0 CATSPERD 257062 broad.mit.edu 37 19 5772836 5772836 + Nonsense_Mutation SNP G G T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr19:5772836G>T ENST00000381624.3 + 20 1862 c.1801G>T c.(1801-1803)Gag>Tag p.E601* CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 601 integral to membrane CATCGACGCCGAGTATGTGTT 0.607000 22 69 2.98393e-07 3.41405e-07 0.076483 1 0 TRIOBP 11078 broad.mit.edu 37 22 38121554 38121554 + Silent SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr22:38121554C>T ENST00000406386.3 + 7 3246 c.2991C>T c.(2989-2991)ccC>ccT p.P997P RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 997 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTGTGTACCCCGCTGCCTATG 0.652000 25 124 0 0 0.083992 0 0 EPHA7 2045 broad.mit.edu 37 6 93967961 93967961 + Missense_Mutation SNP C C A TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr6:93967961C>A ENST00000369303.4 - 11 2150 c.1966G>T c.(1966-1968)Ggg>Tgg p.G656W NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 656 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.G656W(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TCTCTTTTCCCTGGAAGTTTC 0.383000 20 79 3.83957e-06 4.27741e-06 0.076483 1 0 ACAD10 80724 broad.mit.edu 37 12 112167625 112167625 + Missense_Mutation SNP G G T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr12:112167625G>T ENST00000455480.2 + 11 1529 c.1352G>T c.(1351-1353)cGc>cTc p.R451L ACAD10_ENST00000392636.2_Missense_Mutation_p.R22L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.R420L|ACAD10_ENST00000313698.4_Missense_Mutation_p.R420L NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 420 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 TATATTCCACGCCAGGTACGA 0.507000 13 38 6.72482e-11 8.21204e-11 0.024245 1 0 UBAP2 55833 broad.mit.edu 37 9 33923478 33923479 + Splice_Site INS - - G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr9:33923478_33923479insG ENST00000379238.1 - 25 2914 c.e25-2 UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TGGAGGGACCTGGGGGGGCAAG 0.594 53 279 --- --- --- --- VPS13A 23230 broad.mit.edu 37 9 79930243 79930244 + Frame_Shift_Ins INS - - T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr9:79930243_79930244insT ENST00000360280.3 + 38 4747_4748 c.4487_4488insT c.(4486-4488)tgtfs p.C1496fs VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.C1496fs|VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.C1457fs|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.C1496fs NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1496 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGAGATGGTTGTGTGACTGATG 0.396 40 72 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 25 26 --- --- --- --- HS3ST6 64711 broad.mit.edu 37 16 1961723 1961737 + In_Frame_Del DEL GCGGGGACGGCTGCC GCGGGGACGGCTGCC - rs79686696 by1000genomes TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr16:1961723_1961737delGCGGGGACGGCTGCC ENST00000454677.2 - 2 999_1013 c.934_948delGGCAGCCGTCCCCGC c.(934-948)del p.GSRPR312del HS3ST6_ENST00000443547.1_In_Frame_Del_p.GSRPR264del|HS3ST6_ENST00000293937.3_In_Frame_Del_p.GSRPR295del C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 264 endometrium(2)|lung(2) 4 TGCCCAGGCAGCGGGGACGGCTGCCGCCCTGGGCC 0.679 9 23 --- --- --- --- DYRK1B 9149 broad.mit.edu 37 19 40321135 40321137 + In_Frame_Del DEL CTC CTC - TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5214457-3a86-4b29-b116-3baaa0aa5099 52a510f4-866c-4471-a03b-a406c75f544f g.chr19:40321135_40321137delCTC ENST00000593685.1 - 4 718_720 c.250_252delGAG c.(250-252)del p.E84del DYRK1B_ENST00000323039.5_In_Frame_Del_p.E84del|DYRK1B_ENST00000597639.1_In_Frame_Del_p.E84del|DYRK1B_ENST00000348817.3_In_Frame_Del_p.E84del|DYRK1B_ENST00000601972.1_In_Frame_Del_p.E84del|DYRK1B_ENST00000430012.2_In_Frame_Del_p.E84del Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 84 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GGACCTTCTTCTCCTTCTTGTTG 0.581 22 82 --- --- --- ---