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 ABCA13 154664 broad.mit.edu 37 7 48315902 48315902 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr7:48315902C>G ENST00000435803.1 + 17 6663 c.6639C>G c.(6637-6639)atC>atG p.I2213M NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2213 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTAATTTGATCAATAACTTAG 0.338000 4 19 0 0 1 0 0 ZMAT2 153527 broad.mit.edu 37 5 140084063 140084063 + Missense_Mutation SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr5:140084063G>C ENST00000274712.3 + 5 490 c.363G>C c.(361-363)caG>caC p.Q121H NM_144723.1 NP_653324.1 Q96NC0 ZMAT2_HUMAN zinc finger, matrin-type 2 121 nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTGGATCAGGTGAAGAAAC 0.453000 14 92 0 0 1 0 0 ATXN10 25814 broad.mit.edu 37 22 46238887 46238887 + Missense_Mutation SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr22:46238887G>C ENST00000252934.5 + 11 1519 c.1254G>C c.(1252-1254)gtG>gtC p.418_418insV ATXN10_ENST00000381061.4_Missense_Mutation_p.354_354insV|ATXN10_ENST00000402380.3_Missense_Mutation_p.69_69insV NM_013236.3 NP_037368.1 Q9UBB4 ATX10_HUMAN ataxin 10 0 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) CCCAGTGGGTGATATATGCCA 0.438000 9 54 0 0 1 0 0 APPL2 55198 broad.mit.edu 37 12 105583914 105583914 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr12:105583914C>G ENST00000258530.3 - 15 1486 c.1261G>C c.(1261-1263)Gag>Cag p.E421Q APPL2_ENST00000539978.2_Missense_Mutation_p.E378Q|APPL2_ENST00000551662.1_Missense_Mutation_p.E427Q 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 2 421 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding 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 TTTTCCATCTCTGAATTTTTC 0.413000 17 38 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130241706 130241706 + Missense_Mutation SNP A A C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr9:130241706A>C ENST00000323301.4 + 12 1429 c.825A>C c.(823-825)gaA>gaC p.E275D LRSAM1_ENST00000300417.6_Missense_Mutation_p.E275D|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E275D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E275D NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 275 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 GGCGCCTGGAACTGGGGCAGC 0.587000 13 58 0 0 1 0 0 ZDHHC20 253832 broad.mit.edu 37 13 22033206 22033206 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr13:22033206C>T ENST00000400590.3 - 1 303 c.105G>A c.(103-105)gtG>gtA p.V35V ZDHHC20_ENST00000542645.1_5'UTR|ZDHHC20_ENST00000422251.1_Silent_p.V35V|ZDHHC20_ENST00000415724.1_Silent_p.V35V|ZDHHC20_ENST00000382466.3_Silent_p.V35V|ZDHHC20_ENST00000320220.9_Silent_p.V35V Q5W0Z9 ZDH20_HUMAN zinc finger, DHHC-type containing 20 35 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171) CGCAGAGCTCCACCACGTACG 0.711000 10 56 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175086244 175086244 + Silent SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:175086244C>A ENST00000239462.4 + 10 2402 c.2289C>A c.(2287-2289)gtC>gtA p.V763V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 763 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GTAGCACTGTCCTGACGGGCC 0.642000 25 94 2.39556e-15 2.78143e-15 1 1 0 ZNF425 155054 broad.mit.edu 37 7 148809257 148809257 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr7:148809257C>T ENST00000378061.2 - 3 408 c.276G>A c.(274-276)atG>atA p.M92I ZNF425_ENST00000484196.1_5'UTR NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 92 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CAGTATTCTTCATGTTCAACT 0.368000 17 111 0 0 1 0 0 SLC8B1 80024 broad.mit.edu 37 12 113754397 113754397 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr12:113754397G>A ENST00000552014.1 - 11 1442 c.927C>T c.(925-927)ctC>ctT p.L309L SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.L309L|SLC24A6_ENST00000546737.1_Silent_p.L253L Q6J4K2 NCKX6_HUMAN 309 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CCAGGGGATTGAGGGCCCGGA 0.587000 44 188 0 0 1 0 0 FOLR4 390243 broad.mit.edu 37 11 94039704 94039704 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:94039704G>A ENST00000440961.2 + 2 208 c.164G>A c.(163-165)tGc>tAc p.C55Y NM_001199206.1 NP_001186135.1 A6ND01 FOLR4_HUMAN folate receptor 4, delta (putative) 55 extracellular region folic acid binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 GACAATGCCTGCTGCACCCTC 0.552000 7 173 0 0 1 0 0 MRPL4 51073 broad.mit.edu 37 19 10368996 10368996 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:10368996C>T ENST00000393733.2 + 6 571 c.544C>T c.(544-546)Ctg>Ttg p.L182L MRPL4_ENST00000307422.5_Silent_p.L182L|MRPL4_ENST00000253099.6_Silent_p.L182L|MRPL4_ENST00000590669.1_Silent_p.L182L|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000588502.1_Silent_p.L181L Q9BYD3 RM04_HUMAN mitochondrial ribosomal protein L4 182 translation mitochondrion|ribosome structural constituent of ribosome breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) GACCGTCAAGCTGGCCCAGGT 0.627000 10 55 0 0 1 0 0 HIST3H2A 92815 broad.mit.edu 37 1 228645204 228645204 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:228645204C>G ENST00000366695.2 - 1 356 c.315G>C c.(313-315)caG>caC p.Q105H NM_033445.2 NP_254280.1 Q7L7L0 H2A3_HUMAN histone cluster 3, H2a 105 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|lung(3)|ovary(1) 5 Prostate(94;0.183) GGACGCCACCCTGCGCGATGG 0.682000 31 101 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740854 37740854 + Missense_Mutation SNP A A G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr9:37740854A>G ENST00000539465.1 + 15 2922 c.2329A>G c.(2329-2331)Aag>Gag p.K777E FRMPD1_ENST00000536622.1_Missense_Mutation_p.K599E|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.K646E|FRMPD1_ENST00000377765.3_Missense_Mutation_p.K777E Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 777 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CGCGGCTGATAAGCTCACTCC 0.647000 8 47 0 0 1 0 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363392 21363392 + RNA SNP G G A rs28522842 by1000genomes TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr22:21363392G>A ENST00000452284.1 + 0 1059 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 GGGCCCCATCGAATCACAGGG 0.562000 5 424 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152293497 152293497 + Missense_Mutation SNP A A G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:152293497A>G ENST00000243326.4 + 11 1835 c.1352A>G c.(1351-1353)aAt>aGt p.N451S RIF1_ENST00000453091.2_Missense_Mutation_p.N451S|RIF1_ENST00000444746.2_Missense_Mutation_p.N451S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.N451S|RIF1_ENST00000430328.2_Missense_Mutation_p.N451S Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 451 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) GCTAAGCAAAATAAACTTGTG 0.368000 4 51 0 0 1 0 0 RIOK3 8780 broad.mit.edu 37 18 21054989 21054989 + Missense_Mutation SNP A A G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr18:21054989A>G ENST00000339486.3 + 9 1708 c.1091A>G c.(1090-1092)cAt>cGt p.H364R RIOK3_ENST00000577501.1_Missense_Mutation_p.H364R|RIOK3_ENST00000581585.1_Missense_Mutation_p.H348R NM_003831.3 NP_003822.2 O14730 RIOK3_HUMAN RIO kinase 3 364 Protein kinase. chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) TTTATTGGCCATGATCAAGTT 0.338000 12 83 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42875133 42875133 + Missense_Mutation SNP A A G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr13:42875133A>G ENST00000025301.2 + 8 2426 c.2251A>G c.(2251-2253)Att>Gtt p.I751V NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 751 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CAATCAAGCAATTATGGTGAC 0.418000 13 58 0 0 1 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229073 90229073 + RNA SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:90229073G>A ENST00000390278.2 + 0 29 GCATGGACATGAGGGTCCCCG 0.562000 26 104 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23283320 23283320 + RNA SNP C C A rs149049629 by1000genomes TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr15:23283320C>A ENST00000560464.1 - 0 5097 CAGCGTGTGCCTTTTCCTTCC 0.453000 4 38 0.184627 0.185701 1 1 0 GABRA1 2554 broad.mit.edu 37 5 161324132 161324132 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr5:161324132G>A ENST00000428797.2 + 11 1430 c.1075G>A c.(1075-1077)Gat>Aat p.D359N GABRA1_ENST00000393943.4_Missense_Mutation_p.D359N|GABRA1_ENST00000444819.1_Missense_Mutation_p.D359N|GABRA1_ENST00000023897.6_Missense_Mutation_p.D359N|GABRA1_ENST00000420560.1_Missense_Mutation_p.D359N|GABRA1_ENST00000437025.2_Missense_Mutation_p.D359N NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 359 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GAAAGTAAAGGATCCTCTTAT 0.423000 14 105 0 0 1 0 0 DPRX 503834 broad.mit.edu 37 19 54140088 54140088 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:54140088C>G ENST00000376650.1 + 3 473 c.422C>G c.(421-423)gCa>gGa p.A141G NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 141 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) AAGGTCCCTGCAAATGACTTC 0.532000 19 111 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9550142 9550142 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr18:9550142T>C ENST00000400556.3 - 18 2528 c.2455A>G c.(2455-2457)Acg>Gcg p.T819A PPP4R1_ENST00000400555.3_Missense_Mutation_p.T802A NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 819 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 ACTCCGAACGTTGGTGGTGTT 0.522000 15 42 0 0 1 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42975003 42975003 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr6:42975003G>A ENST00000485511.1 + 5 771 c.592G>A c.(592-594)Gaa>Aaa p.E198K PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E190K|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E166K|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E92K NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 198 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TGACCCAGAGGAAGATGAGCC 0.607000 28 162 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21826266 21826266 + RNA SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:21826266G>C ENST00000426869.3 + 0 449 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) AGGAATGGGAGATGGCAACAA 0.547000 9 47 0 0 1 0 0 GLB1L 79411 broad.mit.edu 37 2 220102604 220102604 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:220102604T>C ENST00000295759.7 - 15 1730 c.1417A>G c.(1417-1419)Atc>Gtc p.I473V GLB1L_ENST00000409640.1_Missense_Mutation_p.I383V|GLB1L_ENST00000356283.3_Missense_Mutation_p.I383V|GLB1L_ENST00000392089.2_Missense_Mutation_p.I473V|GLB1L_ENST00000497855.1_5'UTR Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 473 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCACCAAGATATCCAGTTTG 0.478000 12 55 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42044968 42044968 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr8:42044968C>T ENST00000220809.4 - 6 743 c.487G>A c.(487-489)Ggg>Agg p.G163R PLAT_ENST00000519510.1_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.G163R|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.G117R|PLAT_ENST00000429089.2_Missense_Mutation_p.G163R|PLAT_ENST00000524009.1_Intron NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 163 Kringle 1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity p.G163R(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGCCTCCGCCCGCTGTAGGGC 0.652000 4 34 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006034 74006034 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:74006034C>G ENST00000301607.3 - 22 3505 c.3252G>C c.(3250-3252)aaG>aaC p.K1084N EVPL_ENST00000586740.1_Missense_Mutation_p.K1106N NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1084 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TTTCCAGATTCTTCTCCACCT 0.597000 32 131 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175375841 175375841 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:175375841C>G ENST00000367674.1 - 3 718 c.10G>C c.(10-12)Gat>Cat p.D4H TNR_ENST00000263525.2_Missense_Mutation_p.D4H NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 4 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GTTTCCCCATCTGCCCCCATC 0.532000 19 102 0 0 1 0 0 GKAP1 80318 broad.mit.edu 37 9 86421439 86421439 + Translation_Start_Site SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr9:86421439G>C ENST00000376371.2 - 0 394 GKAP1_ENST00000376365.3_De_novo_Start_InFrame NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 CCATCGTAAAGATTTTTCTTT 0.423000 5 32 0 0 1 0 0 PRMT2 3275 broad.mit.edu 37 21 48078668 48078668 + Missense_Mutation SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr21:48078668G>C ENST00000397637.1 + 7 1620 c.666G>C c.(664-666)atG>atC p.M222I PRMT2_ENST00000397638.2_Missense_Mutation_p.M222I|PRMT2_ENST00000451211.2_Missense_Mutation_p.M222I|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000355680.3_Missense_Mutation_p.M222I|PRMT2_ENST00000440086.1_Intron P55345 ANM2_HUMAN protein arginine methyltransferase 2 222 Interaction with ESR1. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) TTGAGTTCATGATCGAGTCCA 0.567000 9 56 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121301912 121301912 + Missense_Mutation SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr8:121301912G>T ENST00000297848.3 + 34 4413 c.4143G>T c.(4141-4143)aaG>aaT p.K1381N COL14A1_ENST00000247781.3_Missense_Mutation_p.K1286N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1381N NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1381 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGGGTGAGAAGGCAATGAACG 0.438000 10 85 0.000442599 0.000464059 1 1 0 DHX36 170506 broad.mit.edu 37 3 154002694 154002694 + Missense_Mutation SNP A A T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:154002694A>T ENST00000496811.1 - 18 2194 c.2114T>A c.(2113-2115)aTg>aAg p.M705K DHX36_ENST00000544526.1_Missense_Mutation_p.M691K|DHX36_ENST00000329463.5_Missense_Mutation_p.M691K|DHX36_ENST00000308361.6_Missense_Mutation_p.M705K NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 705 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AAAAAGAATCATTTTTCCAAT 0.418000 11 61 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160206325 160206325 + Missense_Mutation SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:160206325G>T ENST00000392783.2 - 28 5252 c.4757C>A c.(4756-4758)cCt>cAt p.P1586H BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1550H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1552H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1486H NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CTGAGACTGAGGAGTCACCAA 0.448000 17 93 2.5808e-16 3.01674e-16 1 1 0 SLAMF7 57823 broad.mit.edu 37 1 160721236 160721236 + Missense_Mutation SNP A A C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:160721236A>C ENST00000368043.3 + 5 908 c.871A>C c.(871-873)Aat>Cat p.N291H SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Intron|SLAMF7_ENST00000441662.2_Missense_Mutation_p.N160H|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.N184H|SLAMF7_ENST00000458602.2_Missense_Mutation_p.N144H NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 291 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCCTCACACTAATGTGAGTCC 0.468000 18 136 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505386 70505386 + Silent SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:70505386T>A ENST00000310961.5 + 22 4198 c.3780T>A c.(3778-3780)acT>acA p.T1260T LRRC7_ENST00000415775.2_Silent_p.T539T|LRRC7_ENST00000035383.5_Silent_p.T1255T Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1255 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CGAGGCCTACTCCTGTGAAGG 0.448000 5 78 0 0 1 0 0 RPS3 6188 broad.mit.edu 37 11 75115170 75115170 + Missense_Mutation SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:75115170G>C ENST00000531188.1 + 5 519 c.457G>C c.(457-459)Gtg>Ctg p.V153L RPS3_ENST00000527446.1_Missense_Mutation_p.V153L|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000278572.6_Missense_Mutation_p.V169L|RPS3_ENST00000524851.1_Missense_Mutation_p.V153L|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000526608.1_Missense_Mutation_p.V141L NM_001005.4|NM_001260506.1|NM_001260507.1 NP_000996.2|NP_001247435.1|NP_001247436.1 P23396 RS3_HUMAN ribosomal protein S3 153 activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus|ruffle membrane damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 CATGAAGTTTGTGGATGGCCT 0.552000 19 75 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53473609 53473609 + RNA SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:53473609T>A ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA GCCACTCTCATTACATTGGAA 0.328000 12 75 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143614818 143614818 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr8:143614818C>T ENST00000517894.1 + 25 4455 c.3561C>T c.(3559-3561)ctC>ctT p.L1187L BAI1_ENST00000323289.5_Silent_p.L1187L O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1187 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ACTGTATCCTCCGTAGAGAGG 0.677000 8 66 0 0 1 0 0 PEX12 5193 broad.mit.edu 37 17 33903191 33903191 + Missense_Mutation SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:33903191C>A ENST00000225873.4 - 3 1297 c.690G>T c.(688-690)gaG>gaT p.E230D NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 230 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGTTTATCTTCTCACTAACAC 0.393000 9 42 0.000274275 0.000289327 1 1 0 RRAS2 22800 broad.mit.edu 37 11 14316369 14316369 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:14316369C>G ENST00000545643.1 - 3 567 c.254G>C c.(253-255)aGa>aCa p.R85T RRAS2_ENST00000532814.1_Missense_Mutation_p.R2T|RRAS2_ENST00000534746.1_Missense_Mutation_p.R2T|RRAS2_ENST00000537760.1_Missense_Mutation_p.R44T|RRAS2_ENST00000256196.4_Missense_Mutation_p.R79T|RRAS2_ENST00000414023.2_Missense_Mutation_p.R2T|RRAS2_ENST00000529237.1_Missense_Mutation_p.R2T|RRAS2_ENST00000526063.1_Missense_Mutation_p.R2T NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 79 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) ATACTGTTCTCTCATGGCTCC 0.393000 15 79 0 0 1 0 0 P2RY1 5028 broad.mit.edu 37 3 152553754 152553754 + Silent SNP A A G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:152553754A>G ENST00000305097.3 + 1 1019 c.183A>G c.(181-183)gtA>gtG p.V61V NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 61 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) ACATCTTGGTATTCATCATCG 0.562000 16 87 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111753007 111753007 + Splice_Site SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr9:111753007T>C ENST00000374595.4 - 4 717 c.639_splice c.e4+1 p.N213_splice CTNNAL1_ENST00000325580.6_Splice_Site_p.N213_splice|CTNNAL1_ENST00000325551.4_Splice_Site_p.N213_splice Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 213 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) AATACATACATTTTGTCTATC 0.338000 8 29 0 0 1 0 0 TBPL1 9519 broad.mit.edu 37 6 134305519 134305519 + Silent SNP A A T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr6:134305519A>T ENST00000237264.4 + 5 563 c.288A>T c.(286-288)atA>atT p.I96I TBPL1_ENST00000367871.1_Silent_p.I96I|TBPL1_ENST00000477527.1_Intron NM_001253676.1|NM_004865.3 NP_001240605.1|NP_004856.1 P62380 TBPL1_HUMAN TBP-like 1 96 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter cytoplasm DNA binding|protein binding|transcription coactivator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848) TAAAGGTAATATTTACAGATT 0.323000 8 28 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11580751 11580751 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:11580751C>T ENST00000294484.6 + 10 2346 c.2208C>T c.(2206-2208)ttC>ttT p.F736F PTCHD2_ENST00000389575.3_Silent_p.F736F NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 736 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CAGGGCTGTTCGTCTCCATCC 0.657000 7 43 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9560902 9560902 + Nonsense_Mutation SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr20:9560902C>A ENST00000378429.3 - 5 1426 c.880G>T c.(880-882)Gaa>Taa p.E294* PAK7_ENST00000353224.5_Nonsense_Mutation_p.E294*|PAK7_ENST00000378423.1_Nonsense_Mutation_p.E294* NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 294 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) ATCATCGGTTCCTGGAGTCCC 0.552000 13 165 7.93312e-07 8.68626e-07 1 1 0 SERTAD3 29946 broad.mit.edu 37 19 40947969 40947969 + Missense_Mutation SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:40947969T>A ENST00000322354.3 - 2 515 c.19A>T c.(19-21)Agg>Tgg p.R7W SERTAD3_ENST00000392028.4_Missense_Mutation_p.R7W NM_203344.2 NP_976219.1 Q9UJW9 SRTD3_HUMAN SERTA domain containing 3 7 negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGTGTTTCCTCTTCAAGCCT 0.557000 5 31 0 0 1 0 0 ASB6 140459 broad.mit.edu 37 9 132400134 132400134 + Missense_Mutation SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr9:132400134G>C ENST00000277458.4 - 6 1366 c.1201C>G c.(1201-1203)Ctg>Gtg p.L401V ASB6_ENST00000450050.2_Missense_Mutation_p.L322V|ASB6_ENST00000277459.4_3'UTR NM_017873.3 NP_060343.1 Q9NWX5 ASB6_HUMAN ankyrin repeat and SOCS box containing 6 401 SOCS box. intracellular signal transduction cytoplasm NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 15 Ovarian(14;0.00556) CTGTCGGGCAGAGGCAGGGCT 0.617000 8 54 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59350639 59350639 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr15:59350639C>G ENST00000348370.4 + 5 1689 c.1256C>G c.(1255-1257)tCt>tGt p.S419C RNF111_ENST00000559209.1_Missense_Mutation_p.S419C|RNF111_ENST00000557998.1_Missense_Mutation_p.S419C|RNF111_ENST00000561186.1_Missense_Mutation_p.S419C|RNF111_ENST00000434298.1_Missense_Mutation_p.S419C NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 419 Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) CCATCTACCTCTGAGCAGGCC 0.438000 47 202 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35835336 35835336 + Missense_Mutation SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:35835336C>A ENST00000187397.4 + 20 2781 c.2325C>A c.(2323-2325)aaC>aaA p.N775K ARPP21_ENST00000417925.1_Missense_Mutation_p.N776K|ARPP21_ENST00000444190.1_Missense_Mutation_p.N756K|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.N776K|ARPP21_ENST00000337271.5_Missense_Mutation_p.N756K NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 775 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 CCCCTCAGAACAACCTTAGGC 0.542000 10 58 2.80697e-09 3.15329e-09 1 1 0 PRC1 9055 broad.mit.edu 37 15 91517833 91517833 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr15:91517833C>T ENST00000361188.5 - 10 2543 c.1332G>A c.(1330-1332)gaG>gaA p.E444E PRC1_ENST00000442656.2_Silent_p.E403E|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.E444E|PRC1_ENST00000361919.3_Silent_p.E444E O43663 PRC1_HUMAN protein regulator of cytokinesis 1 444 Spectrin-fold. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) GCTTGGCTCTCTCTTTCTCCA 0.463000 34 162 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160388969 160388969 + Missense_Mutation SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:160388969C>A ENST00000368061.2 + 4 844 c.370C>A c.(370-372)Ctg>Atg p.L124M NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 124 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTCACGCCTCTGGCCTTCCT 0.662000 12 44 4.3838e-07 4.86152e-07 1 1 0 DPYSL5 56896 broad.mit.edu 37 2 27162927 27162927 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:27162927C>T ENST00000288699.6 + 9 1134 c.976C>T c.(976-978)Cac>Tac p.H326Y DPYSL5_ENST00000401478.1_Missense_Mutation_p.H326Y NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 326 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCATCAGATCACCGGCCTTT 0.527000 12 80 0 0 1 0 0 GNPAT 8443 broad.mit.edu 37 1 231403629 231403629 + Missense_Mutation SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:231403629G>T ENST00000366647.4 + 9 1428 c.1259G>T c.(1258-1260)gGa>gTa p.G420V GNPAT_ENST00000366646.3_Missense_Mutation_p.G359V NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 420 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) CAGGCATTTGGAGGGTTTCTC 0.428000 8 59 1 1 1 1 0 TMEM2 23670 broad.mit.edu 37 9 74313061 74313061 + Missense_Mutation SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr9:74313061G>C ENST00000377044.4 - 20 3976 c.3437C>G c.(3436-3438)tCt>tGt p.S1146C TMEM2_ENST00000396272.3_Missense_Mutation_p.S139C|TMEM2_ENST00000377066.5_Missense_Mutation_p.S1083C NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 1146 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ACATCCCTGAGATGAACAGTA 0.443000 18 101 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73071705 73071705 + RNA SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chrX:73071705G>C ENST00000429829.1 - 0 883 NR_001564.2 CTTAACTGCAGAGTCATTCTC 0.463000 4 68 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 142567884 142567884 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:142567884C>G ENST00000389484.3 - 2 1140 c.169G>C c.(169-171)Gac>Cac p.D57H LRP1B_ENST00000486364.1_5'UTR NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 57 LDL-receptor class A 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCAGGGCAGTCAGGGTCCCCA 0.443000 TSP Lung(27;0.18) 6 34 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43307320 43307320 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr6:43307320G>A ENST00000361428.2 - 10 4493 c.4416C>T c.(4414-4416)atC>atT p.I1472I ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1472 Pro-rich. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTGGAGCCAAGATAGCATTTG 0.537000 9 41 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27614359 27614359 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:27614359T>C ENST00000225388.4 - 2 711 c.653A>G c.(652-654)tAt>tGt p.Y218C NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 218 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) AGGAGTTGTATATCCGCTCTC 0.383000 17 131 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165548079 165548079 + Missense_Mutation SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:165548079G>C ENST00000264381.3 - 2 909 c.743C>G c.(742-744)gCc>gGc p.A248G BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 248 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TTGCAGAATGGCTCTGGTGAA 0.438000 14 61 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159554629 159554629 + Splice_Site SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr4:159554629G>C ENST00000307765.5 + 12 1222 c.e12+1 RXFP1_ENST00000470033.1_Splice_Site|RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000448688.2_Splice_Site|RXFP1_ENST00000460056.2_Splice_Site NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TGTCACAATTGTAAGACTGAT 0.294000 9 54 0 0 1 0 0 RECQL 5965 broad.mit.edu 37 12 21626537 21626537 + Silent SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr12:21626537T>A ENST00000444129.2 - 12 1863 c.1395A>T c.(1393-1395)gtA>gtT p.V465V RECQL_ENST00000421138.2_Silent_p.V465V NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 465 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 CTGAGTTCCATACTTCATCAA 0.323000 Other identified genes with known or suspected DNA repair function 10 37 0 0 1 0 0 ZNF622 90441 broad.mit.edu 37 5 16465736 16465736 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr5:16465736G>A ENST00000308683.2 - 1 165 c.39C>T c.(37-39)ttC>ttT p.F13F NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 13 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 CCGCGTCGCGGAACGCCACCC 0.642000 13 108 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982292 7982292 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:7982292G>A ENST00000328600.2 - 2 1028 c.867C>T c.(865-867)ctC>ctT p.L289L NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 289 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGGTGGTGATGAGAAGGGAGC 0.542000 27 114 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57000035 57000035 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr12:57000035G>A ENST00000179765.5 - 13 2364 c.2165C>T c.(2164-2166)tCc>tTc p.S722F BAZ2A_ENST00000549884.1_Missense_Mutation_p.S752F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S724F|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S754F Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 754 Lys-rich. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 ACCTACCTTGGATTTCTTCTT 0.393000 11 35 0 0 1 0 0 ZNF724P 440519 broad.mit.edu 37 19 23405636 23405636 + Missense_Mutation SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:23405636T>A ENST00000418100.1 - 4 1528 c.1411A>T c.(1411-1413)Att>Ttt p.I471F endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 CCAGTATGAATTATCCTATGT 0.363000 16 52 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34097827 34097827 + Splice_Site SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr20:34097827G>A ENST00000397527.1 + 34 7729 c.7008_splice c.e34-1 p.D2337_splice CEP250_ENST00000342580.4_Splice_Site_p.D2281_splice NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2337 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) TCTTCCTTAGGATGGGAGAGG 0.498000 12 69 0 0 1 0 0 WWOX 51741 broad.mit.edu 37 16 79245622 79245622 + Missense_Mutation SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr16:79245622G>C ENST00000566780.1 + 9 1540 c.1174G>C c.(1174-1176)Gag>Cag p.E392Q WWOX_ENST00000402655.2_Missense_Mutation_p.R176T|WWOX_ENST00000539474.2_Missense_Mutation_p.K201N|WWOX_ENST00000406884.2_Missense_Mutation_p.E212Q NM_016373.2 NP_057457.1 Q9NZC7 WWOX_HUMAN WW domain containing oxidoreductase 392 Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 7 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) TCAGAGCGAAGAGACGGCCCG 0.617000 10 73 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33629222 33629222 + Missense_Mutation SNP G G A rs143526946 TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr13:33629222G>A ENST00000380099.3 + 3 1377 c.1369G>A c.(1369-1371)Gca>Aca p.A457T KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.A150T NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 457 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CGGGTATACCGCATGGTCCCT 0.527000 4 101 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158549000 158549000 + Silent SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:158549000G>T ENST00000368150.1 - 1 689 c.690C>A c.(688-690)atC>atA p.I230I NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CAGTCAGGATGATGAGCAGAA 0.488000 15 48 0.000219431 0.000232893 1 1 0 CPSF1 29894 broad.mit.edu 37 8 145623977 145623977 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr8:145623977C>G ENST00000349769.3 - 18 1784 c.1690G>C c.(1690-1692)Gaa>Caa p.E564Q NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 564 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TCGTCTGCTTCAGGGGTGGTG 0.657000 30 169 0 0 1 0 0 WTAP 9589 broad.mit.edu 37 6 160176488 160176488 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr6:160176488G>A ENST00000358372.4 + 8 2793 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 346 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) CACGGGCAGTGAAAACTCTCT 0.507000 14 86 0 0 1 0 0 TMEM87A 25963 broad.mit.edu 37 15 42564296 42564296 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr15:42564296T>C ENST00000389834.4 - 2 434 c.170A>G c.(169-171)aAg>aGg p.K57R TMEM87A_ENST00000307216.6_Missense_Mutation_p.K57R|TMEM87A_ENST00000568432.1_5'UTR|TMEM87A_ENST00000448392.1_Intron NM_015497.3 NP_056312.2 Q8NBN3 TM87A_HUMAN transmembrane protein 87A 57 integral to membrane breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) GAAGAGGATCTTTCCAAAACT 0.284000 8 52 0 0 1 0 0 MRPL4 51073 broad.mit.edu 37 19 10368995 10368995 + Missense_Mutation SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:10368995G>T ENST00000393733.2 + 6 570 c.543G>T c.(541-543)aaG>aaT p.K181N MRPL4_ENST00000307422.5_Missense_Mutation_p.K181N|MRPL4_ENST00000253099.6_Missense_Mutation_p.K181N|MRPL4_ENST00000590669.1_Missense_Mutation_p.K181N|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000588502.1_Missense_Mutation_p.K180N Q9BYD3 RM04_HUMAN mitochondrial ribosomal protein L4 181 translation mitochondrion|ribosome structural constituent of ribosome breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) TGACCGTCAAGCTGGCCCAGG 0.632000 11 54 5.50884e-06 5.99389e-06 1 1 0 TP53 7157 broad.mit.edu 37 17 7574000 7574000 + Nonsense_Mutation SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:7574000C>A ENST00000269305.4 - 10 1216 c.1027G>T c.(1027-1029)Gag>Tag p.E343* TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E343* NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 343 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. E -> G (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E343*(8)|p.0?(8)|p.R342_N345delRELN(1)|p.I332fs*5(1)|p.?(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) TCATTCAGCTCTCGGAACATC 0.567000 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) 8 39 7.48243e-07 8.24497e-07 1 1 0 ARSJ 79642 broad.mit.edu 37 4 114824718 114824718 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr4:114824718G>A ENST00000315366.7 - 2 1378 c.512C>T c.(511-513)aCg>aTg p.T171M ARSJ_ENST00000541197.1_Missense_Mutation_p.T171M NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 171 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) GACCATATGCGTTGAATATCC 0.448000 23 120 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33495214 33495214 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr10:33495214C>T ENST00000374816.3 - 11 1966 c.1827G>A c.(1825-1827)aaG>aaA p.K609K NRP1_ENST00000395995.1_Intron|NRP1_ENST00000374823.5_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000374867.2_Intron|NRP1_ENST00000265371.4_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000466932.1_Intron O14786 NRP1_HUMAN neuropilin 1 0 axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CTGCCCATCTCTTCTTTTTCT 0.483000 11 43 0 0 1 0 0 LY6D 8581 broad.mit.edu 37 8 143867012 143867012 + Silent SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr8:143867012C>A ENST00000301263.4 - 2 219 c.144G>T c.(142-144)acG>acT p.T48T RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR NM_003695.2 NP_003686.1 Q14210 LY6D_HUMAN lymphocyte antigen 6 complex, locus D 48 UPAR/Ly6. cell adhesion anchored to membrane|membrane fraction|plasma membrane protein binding large_intestine(1)|lung(3)|prostate(1) 5 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CACCTGTGTTCGTGGTCTTGC 0.647000 13 81 0.000151284 0.00016256 1 1 0 PRTG 283659 broad.mit.edu 37 15 56032808 56032808 + Missense_Mutation SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr15:56032808C>A ENST00000389286.4 - 2 216 c.169G>T c.(169-171)Gtt>Ttt p.V57F PRTG_ENST00000561292.1_Missense_Mutation_p.V57F NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 57 Ig-like 1. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) CAATCTAAAACGACTGGGTCC 0.408000 11 94 9.70103e-10 1.09691e-09 1 1 0 PLEKHG4 25894 broad.mit.edu 37 16 67316154 67316154 + Silent SNP A A G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr16:67316154A>G ENST00000360461.5 + 8 3690 c.1155A>G c.(1153-1155)ctA>ctG p.L385L PLEKHG4_ENST00000379344.3_Silent_p.L385L|PLEKHG4_ENST00000427155.2_Silent_p.L385L|PLEKHG4_ENST00000450733.1_Silent_p.L304L NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 385 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) AGCAGGTGCTAGACTCGCCAT 0.602000 7 52 0 0 1 0 0 HAPLN3 145864 broad.mit.edu 37 15 89421324 89421324 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr15:89421324G>A ENST00000359595.3 - 5 1174 c.960C>T c.(958-960)agC>agT p.S320S HAPLN3_ENST00000562889.1_Silent_p.S382S NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 320 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) GGTAGCGGACGCTACCATCTG 0.642000 28 109 0 0 1 0 0 TSLP 85480 broad.mit.edu 37 5 110409267 110409267 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr5:110409267C>T ENST00000420978.2 + 4 1697 c.275C>T c.(274-276)tCg>tTg p.S92L TSLP_ENST00000344895.3_Missense_Mutation_p.S92L|TSLP_ENST00000379706.4_5'UTR Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 92 extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) GGCTGCGCGTCGCTCGCCAAA 0.517000 25 172 0 0 1 0 0 EDDM3A 10876 broad.mit.edu 37 14 21215972 21215972 + Missense_Mutation SNP G G A rs149270684 byFrequency TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr14:21215972G>A ENST00000326842.2 + 2 360 c.233G>A c.(232-234)cGt>cAt p.R78H NM_006683.4 NP_006674.2 Q14507 EP3A_HUMAN epididymal protein 3A 78 sperm displacement extracellular space breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 AAAATTCAGCGTGCATGCATC 0.438000 6 41 0 0 1 0 0 IFNL3 282617 broad.mit.edu 37 19 39734290 39734290 + Missense_Mutation SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:39734290G>T ENST00000413851.2 - 5 611 c.573C>A c.(571-573)agC>agA p.S191R NM_172139.2 NP_742151.2 interferon, lambda 3 p.S191S(1) ACAGGTCCCCGCTGGCAACAC 0.527000 3 16 0.115264 0.117298 1 1 0 BARD1 580 broad.mit.edu 37 2 215610519 215610519 + Silent SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:215610519T>C ENST00000260947.4 - 8 1871 c.1737A>G c.(1735-1737)tcA>tcG p.S579S BARD1_ENST00000449967.2_Silent_p.S435S NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 579 BRCT 1. cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCTGTTGTTCTGAAGACAGCC 0.398000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 17 127 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20116857 20116857 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:20116857T>C ENST00000397165.2 - 4 1614 c.1454A>G c.(1453-1455)aAa>aGa p.K485R ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.K491R|ZNF682_ENST00000595736.1_Missense_Mutation_p.K409R|ZNF682_ENST00000397162.1_Missense_Mutation_p.K453R|ZNF682_ENST00000358523.5_Missense_Mutation_p.K453R NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TTCCCCACATTTTTTATACTT 0.338000 15 66 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132407666 132407666 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:132407666C>T ENST00000337331.5 - 21 3039 c.2953G>A c.(2953-2955)Gcc>Acc p.A985T NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 985 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGGGACTGGGCTACTCTTGGG 0.473000 19 114 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53609155 53609155 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr12:53609155T>C ENST00000425354.2 - 5 884 c.397A>G c.(397-399)Atc>Gtc p.I133V RARG_ENST00000394426.1_Missense_Mutation_p.I133V|RARG_ENST00000338561.5_Missense_Mutation_p.I122V|RARG_ENST00000327550.3_Missense_Mutation_p.I61V|RARG_ENST00000543726.1_Missense_Mutation_p.I111V|RARG_ENST00000543762.1_5'UTR NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 133 canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TTGTTGATGATACAGTTTTTG 0.537000 18 95 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154557382 154557382 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:154557382G>A ENST00000368474.4 - 15 3780 c.3581C>T c.(3580-3582)aCg>aTg p.T1194M ADAR_ENST00000292205.5_Missense_Mutation_p.T1237M|ADAR_ENST00000368471.3_Missense_Mutation_p.T899M NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 1194 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GTTCTTGGCCGTCTCGTAGTC 0.468000 20 90 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114515930 114515930 + Silent SNP A A G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:114515930A>G ENST00000369558.1 + 16 3661 c.3429A>G c.(3427-3429)gcA>gcG p.A1143A HIPK1_ENST00000340480.4_Silent_p.A769A|HIPK1_ENST00000406344.1_Silent_p.A749A|HIPK1_ENST00000369561.4_Silent_p.A1109A|HIPK1_ENST00000369554.2_Silent_p.A1098A|HIPK1_ENST00000369553.1_Silent_p.A749A|HIPK1_ENST00000426820.2_Silent_p.A1143A|HIPK1_ENST00000369555.2_Silent_p.A1098A Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 1143 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCATGCTGCAGCCTATACCA 0.577000 15 87 0 0 1 0 0 CEP76 79959 broad.mit.edu 37 18 12691416 12691416 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr18:12691416C>T ENST00000262127.2 - 7 1100 c.875G>A c.(874-876)aGa>aAa p.R292K CEP76_ENST00000423709.2_Missense_Mutation_p.R217K|RP11-973H7.2_ENST00000585331.1_RNA NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 292 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CAAATATTCTCTCCACCACTG 0.328000 18 94 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170201117 170201117 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:170201117G>A ENST00000231706.4 - 6 1416 c.1101C>T c.(1099-1101)gaC>gaT p.D367D CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 367 integral to membrane amino acid transmembrane transporter activity p.D367D(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AAAGGAGCCCGTCACCAGCCA 0.537000 OREG0015917 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 49 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144811226 144811226 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr6:144811226C>T ENST00000367545.3 + 30 4154 c.4154C>T c.(4153-4155)tCa>tTa p.S1385L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1385 Interaction with SYNM. 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 p.S1385L(1) 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) GCAGAGATCTCAGCCCATGAG 0.418000 14 101 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006522 74006522 + Nonsense_Mutation SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:74006522C>A ENST00000301607.3 - 22 3017 c.2764G>T c.(2764-2766)Gaa>Taa p.E922* EVPL_ENST00000586740.1_Nonsense_Mutation_p.E944* NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 922 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTCTCCTCTTCCAGCTGGGCC 0.652000 6 50 0.000157383 0.00016807 1 1 0 OR2M4 26245 broad.mit.edu 37 1 248402918 248402918 + Missense_Mutation SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:248402918T>A ENST00000306687.1 + 1 688 c.688T>A c.(688-690)Tct>Act p.S230T NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCACATGGGCTCTGGGGAAAG 0.488000 6 50 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657852 197657852 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:197657852T>C ENST00000263956.3 - 3 328 c.239A>G c.(238-240)aAg>aGg p.K80R GTF3C3_ENST00000409364.3_Missense_Mutation_p.K80R NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 80 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GTGAACTGACTTCCTCACTCC 0.463000 11 83 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146267421 146267421 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr6:146267421C>G ENST00000367503.3 - 7 1667 c.1269G>C c.(1267-1269)aaG>aaC p.K423N SHPRH_ENST00000438092.2_Missense_Mutation_p.K423N|SHPRH_ENST00000275233.7_Missense_Mutation_p.K423N|SHPRH_ENST00000367505.2_Missense_Mutation_p.K423N NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 423 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GGATTTCTGTCTTTTTCAGTT 0.333000 4 46 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41958118 41958118 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:41958118C>T ENST00000269095.4 - 10 1395 c.1091G>A c.(1090-1092)cGc>cAc p.R364H MPP2_ENST00000536246.1_Missense_Mutation_p.R353H|MPP2_ENST00000523501.1_Missense_Mutation_p.R353H|MPP2_ENST00000520305.1_Missense_Mutation_p.R225H|MPP2_ENST00000518766.1_Missense_Mutation_p.R409H|MPP2_ENST00000461854.1_Missense_Mutation_p.R388H|MPP2_ENST00000377184.3_Missense_Mutation_p.R381H NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 388 signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CTTCAGGCTGCGCCGTCCCAC 0.612000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 67 0 0 1 0 0 NDRG3 57446 broad.mit.edu 37 20 35282014 35282014 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr20:35282014G>A ENST00000373803.2 - 17 1132 c.1076C>T c.(1075-1077)tCt>tTt p.S359F NDRG3_ENST00000540765.1_Missense_Mutation_p.S242F|NDRG3_ENST00000373773.3_Missense_Mutation_p.S251F|NDRG3_ENST00000359675.2_Missense_Mutation_p.S334F|NDRG3_ENST00000349004.1_Missense_Mutation_p.S346F Q9UGV2 NDRG3_HUMAN NDRG family member 3 346 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) GCTGGTGACAGACCGGCTGAA 0.552000 10 44 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8133718 8133718 + Missense_Mutation SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:8133718G>T ENST00000315684.8 - 17 2834 c.2827C>A c.(2827-2829)Ccc>Acc p.P943T NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 943 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 AGGTGAGGGGGGAATTCACAT 0.517000 6 67 0.0215528 0.0221942 1 1 0 ADAM10 102 broad.mit.edu 37 15 58919941 58919941 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr15:58919941T>C ENST00000260408.3 - 10 1761 c.1318A>G c.(1318-1320)Ata>Gta p.I440V ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.I139V NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 440 Peptidase M12B. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) ACTTGGCTTATATTTCTAATA 0.318000 9 49 0 0 1 0 0 MED10 84246 broad.mit.edu 37 5 6377334 6377334 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr5:6377334T>C ENST00000255764.3 - 2 261 c.151A>G c.(151-153)Att>Gtt p.I51V NM_032286.2 NP_115662.2 Q9BTT4 MED10_HUMAN mediator complex subunit 10 51 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 CACTTGTCAATATCCTGTAAG 0.398000 11 74 0 0 1 0 0 FOSB 2354 broad.mit.edu 37 19 45974060 45974060 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:45974060G>A ENST00000353609.3 + 2 892 c.300G>A c.(298-300)ccG>ccA p.P100P FOSB_ENST00000592436.1_Silent_p.P100P|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000586615.1_Silent_p.P51P|FOSB_ENST00000591858.1_Silent_p.P61P|FOSB_ENST00000592811.1_Silent_p.P51P|FOSB_ENST00000590335.1_Silent_p.P100P|FOSB_ENST00000417353.2_Silent_p.P100P|FOSB_ENST00000585836.1_Silent_p.P61P|FOSB_ENST00000443841.2_Intron NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 100 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) ACGACATGCCGGGAACCAGCT 0.662000 16 147 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6089554 6089554 + Nonsense_Mutation SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr7:6089554T>A ENST00000199389.6 - 3 546 c.400A>T c.(400-402)Aga>Tga p.R134* EIF2AK1_ENST00000536084.1_Intron NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 134 R -> K (in dbSNP:rs55744865). negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TGACGAACTCTCTCTTTAGCA 0.338000 25 89 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140261916 140261916 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr5:140261916C>T ENST00000289272.2 + 1 63 c.63C>T c.(61-63)ctC>ctT p.L21L PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.L21L|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGATCCTCGCAGCCTGGG 0.592000 35 156 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31625400 31625400 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr20:31625400C>G ENST00000349552.1 + 8 702 c.702C>G c.(700-702)atC>atG p.I234M NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 234 extracellular region lipid binding GCAAAACCATCAAGCTTGCTG 0.607000 4 85 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129195646 129195646 + Splice_Site SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:129195646T>A ENST00000296266.3 + 12 1492 c.e12+2 IFT122_ENST00000349441.2_Splice_Site|IFT122_ENST00000348417.2_Splice_Site|IFT122_ENST00000507564.1_Splice_Site|IFT122_ENST00000347300.2_Splice_Site|IFT122_ENST00000504021.1_Splice_Site|IFT122_ENST00000440957.2_Splice_Site|IFT122_ENST00000431818.2_Splice_Site NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 AGCAGAAAGGTAAGAGGCAGG 0.512000 11 54 0 0 1 0 0 GTF3C4 9329 broad.mit.edu 37 9 135554241 135554241 + Missense_Mutation SNP A A T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr9:135554241A>T ENST00000372146.4 + 2 1799 c.1235A>T c.(1234-1236)aAt>aTt p.N412I GTF3C4_ENST00000483873.2_Intron NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 412 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GCAGGGCTGAATGTTCACAAT 0.453000 30 102 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123091839 123091839 + Missense_Mutation SNP A A G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr4:123091839A>G ENST00000264501.4 + 3 410 c.37A>G c.(37-39)Ata>Gta p.I13V KIAA1109_ENST00000388738.3_Missense_Mutation_p.I13V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.I13V Q2LD37 K1109_HUMAN KIAA1109 13 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TGTTCCTAGTATAACTCAATT 0.299000 4 31 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40774189 40774189 + Silent SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr9:40774189G>T ENST00000602553.1 - 5 1380 c.1086C>A c.(1084-1086)ctC>ctA p.L362L ZNF658_ENST00000377626.3_Silent_p.L362L|ZNF658_ENST00000441795.1_Silent_p.L360L Q5TYW1 ZN658_HUMAN zinc finger protein 658 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ATTTCTGGTAGAGGGCATCTG 0.368000 35 172 1.57019e-19 1.84791e-19 1 1 0 SHC4 399694 broad.mit.edu 37 15 49135689 49135689 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr15:49135689T>C ENST00000332408.4 - 10 1828 c.1400A>G c.(1399-1401)aAt>aGt p.N467S SHC4_ENST00000396535.3_Missense_Mutation_p.N224S|SHC4_ENST00000537958.1_Missense_Mutation_p.N181S NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 467 CH1. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) AGCCTGTGTATTAATGTAGCA 0.512000 17 79 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131953847 131953847 + Nonsense_Mutation SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr5:131953847G>T ENST00000378823.3 + 21 3651 c.2833G>T c.(2833-2835)Gaa>Taa p.E945* RAD50_ENST00000265335.6_Nonsense_Mutation_p.E1084* NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 1084 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTATGAAGAAGAAATTATTCA 0.323000 Homologous recombination 18 109 8.10497e-08 9.0462e-08 1 1 0 SIPA1L3 23094 broad.mit.edu 37 19 38590602 38590602 + Splice_Site SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:38590602C>T ENST00000222345.6 + 5 2175 c.1665_splice c.e5-1 p.L556_splice NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 556 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCTTGAGTAGCTCATCACCCT 0.552000 25 66 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23381605 23381605 + Silent SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:23381605T>C ENST00000400181.4 + 6 938 c.834T>C c.(832-834)cgT>cgC p.R278R KDM1A_ENST00000542151.1_Silent_p.R278R|KDM1A_ENST00000356634.3_Silent_p.R258R|RP1-184J9.2_ENST00000427154.1_RNA NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 258 blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 ATTTAGAGCGTCATGGTCTTA 0.368000 23 152 0 0 1 0 0 KLF1 10661 broad.mit.edu 37 19 12995779 12995779 + Missense_Mutation SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:12995779G>T ENST00000264834.4 - 3 1049 c.1009C>A c.(1009-1011)Cgc>Agc p.R337S NM_006563.3 NP_006554.1 Q13351 KLF1_HUMAN Kruppel-like factor 1 (erythroid) 337 erythrocyte differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|skin(1) 5 Hepatocellular(1079;0.137) GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18) CGGAAGGGGCGCTGCCCCGTG 0.657000 11 62 0.00136819 0.00142589 1 1 0 GPM6A 2823 broad.mit.edu 37 4 176556071 176556071 + Silent SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr4:176556071G>C ENST00000280187.7 - 8 867 c.822C>G c.(820-822)ctC>ctG p.L274L GPM6A_ENST00000515090.1_Silent_p.L267L|GPM6A_ENST00000393658.2_Silent_p.L274L|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000506894.1_Silent_p.L263L NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 274 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) TGTATGCATTGAGCCGCTCTT 0.428000 11 66 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185962417 185962417 + Nonsense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:185962417C>T ENST00000271588.4 + 23 3710 c.3481C>T c.(3481-3483)Cag>Tag p.Q1161* HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q1161* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1161 Ig-like C2-type 8. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GAATGTGACTCAGGCTGTCAA 0.423000 11 60 0 0 1 0 0 NOP58 51602 broad.mit.edu 37 2 203155110 203155110 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:203155110C>T ENST00000264279.5 + 7 790 c.564C>T c.(562-564)ggC>ggT p.G188G NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 188 cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 AATGGTATGGCTGGCATTTCC 0.313000 9 75 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75849918 75849918 + Silent SNP A A T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr10:75849918A>T ENST00000211998.4 + 10 1408 c.1314A>T c.(1312-1314)atA>atT p.I438I VCL_ENST00000372755.3_Silent_p.I438I|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 438 3 X 112 AA tandem repeats.|N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) TTGGGGAAATATCTGCTCTGA 0.398000 16 78 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576904 7576904 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:7576904G>A ENST00000420246.2 - 9 1074 c.942C>T c.(940-942)tcC>tcT p.S314S TP53_ENST00000359597.4_Silent_p.S314S|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Silent_p.S314S|TP53_ENST00000445888.2_Silent_p.S314S|TP53_ENST00000269305.4_Silent_p.S314S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 314 Interaction with CARM1.|Interaction with HIPK1 (By similarity). S -> F (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.S315fs*22(2)|p.S315fs*30(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(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) GCTGGGGAGAGGAGCTGGTGT 0.478000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 40 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141461393 141461393 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr8:141461393G>A ENST00000389328.4 - 2 388 c.374C>T c.(373-375)tCc>tTc p.S125F TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S27F|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S27F NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 27 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GTTCTCCTCGGAGACGATGCC 0.557000 9 69 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123091841 123091841 + Silent SNP A A C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr4:123091841A>C ENST00000264501.4 + 3 412 c.39A>C c.(37-39)atA>atC p.I13I KIAA1109_ENST00000388738.3_Silent_p.I13I|KIAA1109_ENST00000455637.1_Silent_p.I13I Q2LD37 K1109_HUMAN KIAA1109 13 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TTCCTAGTATAACTCAATTAG 0.294000 4 31 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322321 55322321 + Missense_Mutation SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:55322321G>T ENST00000314644.2 + 1 539 c.539G>T c.(538-540)tGc>tTc p.C180F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 126 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 GTGGCCATTTGCAAGCCCTTG 0.498000 HNSCC(20;0.049) 19 83 3.51602e-12 4.00178e-12 1 1 0 COL8A1 1295 broad.mit.edu 37 3 99514668 99514668 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:99514668C>T ENST00000261037.3 + 5 2303 c.1923C>T c.(1921-1923)aaC>aaT p.N641N COL8A1_ENST00000273342.4_Silent_p.N641N NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 641 C1q.|Nonhelical region (NC1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 TGCTGTATAACGGCAGACAGA 0.552000 11 51 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1080567 1080567 + Silent SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:1080567T>C ENST00000441003.2 + 9 1236 c.1209T>C c.(1207-1209)gaT>gaC p.D403D MUC2_ENST00000359061.5_Silent_p.D403D NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 403 VWFD 2. 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) CCACCTTCGATGGGAAGACGT 0.647000 7 29 0 0 1 0 0 SPANXN4 441525 broad.mit.edu 37 X 142113849 142113849 + Missense_Mutation SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chrX:142113849T>A ENST00000370504.3 + 1 132 c.49T>A c.(49-51)Tgt>Agt p.C17S SPANXN4_ENST00000446864.1_Missense_Mutation_p.C17S Q5MJ08 SPXN4_HUMAN SPANX family, member N4 17 endometrium(2)|large_intestine(2)|lung(3)|ovary(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) GAAGAGCCCCTGTGAATCTAA 0.428000 3 8 0 0 1 0 0 GALNT9 50614 broad.mit.edu 37 12 132683769 132683769 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr12:132683769C>T ENST00000328957.8 - 9 1446 c.1447G>A c.(1447-1449)Gag>Aag p.E483K GALNT9_ENST00000535228.1_Missense_Mutation_p.E234K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E117K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E117K NM_001122636.1 NP_001116108.1 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) 483 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) TCGCCGTCCTCCGCTCCCTGG 0.657000 7 57 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr12:20523043G>A ENST00000359062.3 + 1 865 c.825G>A c.(823-825)ctG>ctA p.L275L RP11-284H19.1_ENST00000535755.1_RNA NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 275 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding p.L275L(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGTCCCAGCTGATTGCTGGGA 0.627000 7 60 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236881 140236881 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr5:140236881G>A ENST00000307360.5 + 1 1248 c.1248G>A c.(1246-1248)agG>agA p.R416R PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.R416R|PCDHA8_ENST00000531613.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGCGAGAGGGTGTCGGCCT 0.637000 55 94 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88260246 88260246 + Missense_Mutation SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr10:88260246T>C ENST00000298767.5 - 3 1226 c.754A>G c.(754-756)Att>Gtt p.I252V NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 252 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 AAACTTAAAATACAGTCTTCT 0.353000 9 66 0 0 1 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22830863 22830863 + Silent SNP G G A rs111483402 byFrequency TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr10:22830863G>A ENST00000376573.4 - 8 1134 c.906C>T c.(904-906)ggC>ggT p.G302G PIP4K2A_ENST00000545335.1_Silent_p.G243G|PIP4K2A_ENST00000323883.7_Silent_p.G162G NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 302 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 CATCGCTCTCGCCCTCCTCCT 0.602000 7 63 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124401152 124401152 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr12:124401152G>A ENST00000409039.3 + 62 10542 c.10517G>A c.(10516-10518)cGg>cAg p.R3506Q NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3506 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCCCAAGGACGGCAGTTTATT 0.438000 9 36 0 0 1 0 0 SLC52A1 55065 broad.mit.edu 37 17 4936430 4936430 + Nonsense_Mutation SNP G G C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:4936430G>C ENST00000424747.1 - 5 1881 c.1169C>G c.(1168-1170)tCa>tGa p.S390* SLC52A1_ENST00000512825.2_Missense_Mutation_p.H349D|SLC52A1_ENST00000254853.5_Nonsense_Mutation_p.S390* NM_001104577.1 NP_001098047.1 Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 390 integral to plasma membrane receptor activity|riboflavin transporter activity CTTCACATATGAGAACACACA 0.622000 8 47 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85788103 85788103 + Missense_Mutation SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:85788103C>T ENST00000233838.3 - 2 129 c.49G>A c.(49-51)Gta>Ata p.V17I GGCX_ENST00000430215.3_Intron NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 17 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) TCTTTCTGTACTTTATCTGCA 0.498000 19 96 0 0 1 0 0 CERS3 204219 broad.mit.edu 37 15 101024772 101024772 + Missense_Mutation SNP C C A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr15:101024772C>A ENST00000284382.4 - 6 813 c.390G>T c.(388-390)aaG>aaT p.K130N CERS3_ENST00000538112.2_Missense_Mutation_p.K130N|CERS3_ENST00000394113.1_Missense_Mutation_p.K130N|CERS3_ENST00000560944.1_Intron NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 130 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CCTGGAATTTCTTCAGCCTGG 0.517000 14 52 1.52009e-12 1.75317e-12 1 1 0 IFT172 26160 broad.mit.edu 37 2 27684212 27684212 + Missense_Mutation SNP C C T rs148237432 TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:27684212C>T ENST00000260570.3 - 22 2469 c.2366G>A c.(2365-2367)cGa>cAa p.R789Q NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 789 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CAGTTCCTCTCGGGTCAGCAC 0.567000 17 87 0 0 1 0 0 SPRY3 10251 broad.mit.edu 37 X 155003770 155003770 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chrX:155003770G>A ENST00000302805.2 + 2 668 c.237G>A c.(235-237)ctG>ctA p.L79L NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 79 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTCAGCATCTGAGCCAATCTA 0.542000 25 84 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140401654 140401654 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:140401654G>A ENST00000286349.3 + 2 883 c.692G>A c.(691-693)cGc>cAc p.R231H NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 231 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CGCTTTGACCGCTCCTCCGGG 0.617000 13 131 0 0 1 0 0 C2orf53 339779 broad.mit.edu 37 2 27360256 27360256 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:27360256G>A ENST00000335524.3 - 3 1467 c.942C>T c.(940-942)ccC>ccT p.P314P NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 314 cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCTTTTCTCGGGCAGCAGAT 0.667000 20 77 0 0 1 0 0 EYA3 2140 broad.mit.edu 37 1 28354301 28354301 + Splice_Site SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:28354301T>A ENST00000373871.3 - 7 738 c.499_splice c.e7+1 p.Q166_splice EYA3_ENST00000436342.2_Splice_Site_p.Q40_splice|EYA3_ENST00000545175.1_Splice_Site_p.Q113_splice|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Intron|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000540618.1_Intron Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 166 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) CCTATTTACCTTGAATGGGAT 0.368000 10 109 0 0 1 0 0 RANBP10 57610 broad.mit.edu 37 16 67778309 67778309 + Silent SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr16:67778309G>A ENST00000317506.3 - 4 565 c.450C>T c.(448-450)ttC>ttT p.F150F RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000602677.1_Silent_p.F150F|RANBP10_ENST00000411657.2_Silent_p.F33F|RANBP10_ENST00000425512.2_Silent_p.F18F|RANBP10_ENST00000536251.1_5'UTR NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 150 B30.2/SPRY. endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) CCGAGGAGCAGAACGAATGCC 0.532000 6 41 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56549545 56549545 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr19:56549545G>A ENST00000390649.3 + 10 2770 c.2770G>A c.(2770-2772)Gcc>Acc p.A924T NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 924 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTCCCAGTGCGCCCTGCAGAA 0.532000 35 94 0 0 1 0 0 PFKFB3 5209 broad.mit.edu 37 10 6257188 6257188 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr10:6257188C>T ENST00000379775.4 + 3 537 c.207C>T c.(205-207)ttC>ttT p.F69F PFKFB3_ENST00000379789.4_Silent_p.F49F|PFKFB3_ENST00000540253.1_Silent_p.F83F|PFKFB3_ENST00000360521.2_Silent_p.F69F|PFKFB3_ENST00000317350.4_Silent_p.F69F|PFKFB3_ENST00000536985.1_Silent_p.F49F|PFKFB3_ENST00000379785.1_Silent_p.F69F|PFKFB3_ENST00000379782.3_Silent_p.F69F NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 69 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 CCACAGTGTTCAACGTCGGGG 0.567000 12 61 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18848708 18848708 + Missense_Mutation SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr16:18848708T>A ENST00000446231.2 - 46 7883 c.7471A>T c.(7471-7473)Agc>Tgc p.S2491C SMG1_ENST00000389467.3_Missense_Mutation_p.S2491C Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2491 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TCATCTAAGCTACCGTCCAAC 0.423000 11 69 0 0 1 0 0 SSTR5 6755 broad.mit.edu 37 16 1129463 1129463 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr16:1129463G>A ENST00000293897.4 + 1 683 c.595G>A c.(595-597)Gcc>Acc p.A199T SSTR5_ENST00000397547.2_Missense_Mutation_p.A199T|SSTR5_ENST00000562758.1_Missense_Mutation_p.A199T NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 199 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) GCTGTGGGGCGCCGTCTTCAT 0.677000 3 13 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7021701 7021701 + Nonsense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:7021701G>A ENST00000278314.4 - 3 1528 c.1213C>T c.(1213-1215)Cag>Tag p.Q405* ZNF214_ENST00000536068.1_Nonsense_Mutation_p.Q405* NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TGTACTAACTGATGAATTCGA 0.413000 5 120 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63803606 63803606 + Silent SNP G G T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr5:63803606G>T ENST00000334025.2 + 2 560 c.234G>T c.(232-234)tcG>tcT p.S78S RGS7BP_ENST00000508162.1_Intron NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 78 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) GGGATGTCTCGGTCAGCTGCC 0.498000 12 72 2.68362e-12 3.07461e-12 1 1 0 SYF2 25949 broad.mit.edu 37 1 25549805 25549805 + Silent SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:25549805T>C ENST00000236273.4 - 7 709 c.684A>G c.(682-684)aaA>aaG p.K228K SYF2_ENST00000354361.3_Silent_p.K186K NM_015484.4 NP_056299.1 O95926 SYF2_HUMAN SYF2 pre-mRNA-splicing factor 228 catalytic step 2 spliceosome kidney(1)|large_intestine(1)|lung(4) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) CAGCTGTGTATTTCCCATAGA 0.358000 20 200 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182780744 182780744 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:182780744C>G ENST00000431877.2 + 11 2556 c.2377C>G c.(2377-2379)Cag>Gag p.Q793E SSFA2_ENST00000409136.1_Missense_Mutation_p.Q302E|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q793E|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q640E|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q793E NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 793 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ACATGATGGTCAGTCTTTAGT 0.498000 9 45 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72320109 72320109 + Missense_Mutation SNP C C G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr15:72320109C>G ENST00000356056.5 - 4 1433 c.961G>C c.(961-963)Gag>Cag p.E321Q MYO9A_ENST00000564571.1_Missense_Mutation_p.E321Q|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.E321Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.E321Q|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 321 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTGGACTTCTCCAGTAGATAT 0.299000 20 111 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51484174 51484174 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr6:51484174G>A ENST00000371117.3 - 67 12205 c.11930C>T c.(11929-11931)tCc>tTc p.S3977F RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.1_RNA NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3977 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 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) GTGCCCATGGGATGTGATGCC 0.557000 21 92 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86590619 86590619 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:86590619G>A ENST00000370571.2 - 3 1766 c.1400C>T c.(1399-1401)aCt>aTt p.T467I COL24A1_ENST00000436319.1_Missense_Mutation_p.T467I NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 467 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) ATAAAGCTCAGTTTCATAGCT 0.373000 12 81 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164730803 164730803 + Missense_Mutation SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:164730803T>A ENST00000264382.3 - 34 4089 c.4027A>T c.(4027-4029)Ata>Tta p.I1343L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1343 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTTTTATCTATTGTTATGTTG 0.338000 HNSCC(35;0.089) 22 99 0 0 1 0 0 DCAF4 26094 broad.mit.edu 37 14 73422295 73422295 + Missense_Mutation SNP A A G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr14:73422295A>G ENST00000553457.1 + 11 1060 c.770A>G c.(769-771)aAt>aGt p.N257S DCAF4_ENST00000353777.3_Missense_Mutation_p.N187S|DCAF4_ENST00000358377.2_Missense_Mutation_p.N357S|DCAF4_ENST00000555042.1_Missense_Mutation_p.N351S|DCAF4_ENST00000509153.1_Missense_Mutation_p.N297S|DCAF4_ENST00000394234.2_Missense_Mutation_p.N257S Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 357 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 CGTTGTGGAAATCAAGGCAAG 0.527000 81 165 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19183871 19183871 + Missense_Mutation SNP G G A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:19183871G>A ENST00000375371.3 - 2 458 c.437C>T c.(436-438)tCt>tTt p.S146F RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 146 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) AGTCATGACAGACTCGGAGTT 0.572000 5 64 0 0 1 0 0 NUGGC 389643 broad.mit.edu 37 8 27917999 27917999 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr8:27917999C>T ENST00000413272.2 - 8 1183 c.1041G>A c.(1039-1041)agG>agA p.R347R NUGGC_ENST00000341513.6_Silent_p.R347R NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GGGCCACGTCCCTACAGAAGC 0.562000 OREG0018675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 28 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83858433 83858433 + Silent SNP C C T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr4:83858433C>T ENST00000340417.3 - 9 1928 c.1551G>A c.(1549-1551)tcG>tcA p.S517S LIN54_ENST00000506560.1_Silent_p.S428S|LIN54_ENST00000510557.1_Silent_p.S296S|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Silent_p.S517S|LIN54_ENST00000395283.2_Silent_p.S428S|LIN54_ENST00000446851.2_Silent_p.S296S|LIN54_ENST00000442461.2_Silent_p.S296S NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 517 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.S517S(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) GCCGACTGGCCGACTCTGATG 0.303000 20 87 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94858013 94858013 + Splice_Site SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr5:94858013T>A ENST00000358746.2 - 19 2056 c.e19-2 NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 GCCTGTAAACTAAAATTTAAA 0.338000 3 17 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154842200 154842205 + In_Frame_Del DEL GCTGCT GCTGCT - rs58327065 TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr1:154842200_154842205delGCTGCT ENST00000271915.3 - 1 551_556 c.236_241delAGCAGC c.(235-243)cca>c p.QQP79del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 79 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGATGCGGTGgctgctgctgctgctg 0.704 4 4 --- --- --- --- POMC 5443 broad.mit.edu 37 2 25384456 25384457 + In_Frame_Ins INS - - GCCGCTGCT rs10654394 byFrequency TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:25384456_25384457insGCCGCTGCT ENST00000405623.1 - 3 752_753 c.297_298insAGCAGCGGC c.(295-300)ggcagg>ggAGCAGCGGCcagg p.99_100GR>GAAAR POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GR>GAAAR P01189 COLI_HUMAN proopiomelanocortin 99 Missing. cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TTCTGCCCTGCgccgctgctgc 0.728 7 10 --- --- --- --- HNRNPA1P57 101060039 broad.mit.edu 37 2 41383697 41383697 + RNA DEL G G - rs111828414 TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr2:41383697delG ENST00000431359.1 + 0 312 GGATGCCGCCGAAGAAGCATG 0.373 2 4 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169889137 169889138 + Frame_Shift_Ins INS - - A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr3:169889137_169889138insA ENST00000497658.1 - 4 454_455 c.437_438insT c.(436-438)tctfs p.S146fs PHC3_ENST00000494943.1_Intron|PHC3_ENST00000474275.1_Intron|PHC3_ENST00000481639.1_Frame_Shift_Ins_p.S142fs|PHC3_ENST00000467570.1_Intron|PHC3_ENST00000495893.1_Intron Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 782 Ser-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTAAATCCAGGAAAAAAAAATT 0.337 2 4 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187549909 187549910 + Frame_Shift_Ins INS - - A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr4:187549909_187549910insA ENST00000441802.2 - 8 4540_4541 c.4331_4332insT c.(4330-4332)aaafs p.K1444fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1444 Cadherin 12. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CTATTACTTTGATGAATACCTG 0.312 HNSCC(5;0.00058) 10 32 --- --- --- --- ABHD17B 51104 broad.mit.edu 37 9 74489702 74489703 + Frame_Shift_Ins INS - - A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr9:74489702_74489703insA ENST00000333421.6 - 2 405_406 c.294_295insT c.(292-297)cagaaafs p.QK98fs ABHD17B_ENST00000377041.2_Frame_Shift_Ins_p.QK98fs NM_001025780.1 NP_001020951.1 abhydrolase domain containing 17B ACAGCATTTCCATGTGAGAAGA 0.366 25 96 --- --- --- --- WEE1 7465 broad.mit.edu 37 11 9608371 9608371 + Frame_Shift_Del DEL T T - TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:9608371delT ENST00000299613.6 + 10 1868 c.1113delT c.(1111-1113)aafs p.N371fs WEE1_ENST00000450114.2_Frame_Shift_Del_p.N585fs NM_001143976.1 NP_001137448.1 P30291 WEE1_HUMAN WEE1 G2 checkpoint kinase 585 Protein kinase. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) TAGAATTGAATGCCGAAAAGT 0.343 10 59 --- --- --- --- KAT5 10524 broad.mit.edu 37 11 65481075 65481077 + In_Frame_Del DEL GGA GGA - TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:65481075_65481077delGGA ENST00000341318.4 + 5 786_788 c.552_554delGGA c.(550-555)gtg>gt p.VE184del KAT5_ENST00000352980.4_In_Frame_Del_p.VE99del|KAT5_ENST00000377046.3_In_Frame_Del_p.VE151del|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_In_Frame_Del_p.VE132del NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 151 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 AACGGAAGGTGGAGGTGGTTTCA 0.542 14 69 --- --- --- --- PACS1 55690 broad.mit.edu 37 11 65838059 65838061 + In_Frame_Del DEL GCA GCA - rs75352646 TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:65838059_65838061delGCA ENST00000320580.4 + 1 135_137 c.102_104delGCA c.(100-105)ccg>cc p.PQ34del NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 34 Gly-rich. interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 agccgccgccgcagcagcagcag 0.793 2 4 --- --- --- --- SRPR 6734 broad.mit.edu 37 11 126134870 126134871 + Frame_Shift_Ins INS - - A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr11:126134870_126134871insA ENST00000332118.6 - 11 1662_1663 c.1508_1509insT c.(1507-1509)agafs p.R503fs SRPR_ENST00000532259.1_Frame_Shift_Ins_p.R475fs NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 503 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) CAATGGCTTCCATGGCAATGCC 0.525 10 54 --- --- --- --- ACTR6 64431 broad.mit.edu 37 12 100613798 100613799 + Frame_Shift_Ins INS - - T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr12:100613798_100613799insT ENST00000188312.2 + 10 1700_1701 c.935_936insT c.(934-936)cttfs p.L312fs ACTR6_ENST00000552376.1_Intron|ACTR6_ENST00000551617.1_Intron|ACTR6_ENST00000546902.1_Frame_Shift_Ins_p.L230fs NM_022496.4 NP_071941.1 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog (yeast) 312 cytoplasm|cytoskeleton autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 ATGCAGCCGCATTTTTTTAAGA 0.376 19 68 --- --- --- --- METRN 79006 broad.mit.edu 37 16 767275 767276 + Frame_Shift_Del DEL GC GC - TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr16:767275_767276delGC ENST00000568223.2 + 4 945_946 c.770_771delGC c.(769-771)afs p.S257fs METRN_ENST00000568415.1_Frame_Shift_Del_p.S124fs NM_024042.2 NP_076947.1 Q9UJH8 METRN_HUMAN meteorin, glial cell differentiation regulator 257 skin(1) 1 Hepatocellular(780;0.00335) ATGGGCTGGAGCCGCTTTGGGG 0.713 3 6 --- --- --- --- LOC100129781 100129781 broad.mit.edu 37 16 14403341 14403341 + RNA DEL C C - TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr16:14403341delC ENST00000570945.1 + 0 310 CCTTCTGGGTCCCTGGTAGAT 0.517 2 4 --- --- --- --- KRTAP1-3 81850 broad.mit.edu 37 17 39190707 39190708 + Frame_Shift_Ins INS - - G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr17:39190707_39190708insG ENST00000344363.5 - 1 399_400 c.366_367insC c.(364-369)ccgctgfs p.L123fs NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 133 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACCACACAGCAGGGGGGCAGGC 0.678 12 36 --- --- --- --- STK4 6789 broad.mit.edu 37 20 43615932 43615933 + Frame_Shift_Ins INS - - T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chr20:43615932_43615933insT ENST00000372806.3 + 5 615_616 c.520_521insT c.(520-522)tacfs p.Y174fs STK4_ENST00000372801.1_Frame_Shift_Ins_p.Y174fs|STK4_ENST00000499879.2_Intron|STK4_ENST00000396731.4_Frame_Shift_Ins_p.Y174fs NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 174 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) AGCAGGTCAACTTACAGTAAGT 0.297 11 46 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578866 154578866 + RNA DEL T T - TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fe5f8b2-c794-4c93-b2ab-0b544e366f5c 8713028f-5a09-4f4a-8202-cf52b1834ed1 g.chrX:154578866delT ENST00000412436.1 - 0 98 RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA TTTCTCTCTGTTTTTTTTTTT 0.418 2 4 --- --- --- ---