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 PCDH10 57575 broad.mit.edu 37 4 134071659 134071659 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr4:134071659T>C ENST00000264360.4 + 1 1190 c.364T>C c.(364-366)Ttc>Ctc p.F122L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 122 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CCCCCCCTCTTTCCCGGAGCC 0.612000 16 86 0 0 0.004007 0 0 SPTA1 6708 broad.mit.edu 37 1 158596754 158596754 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:158596754A>G ENST00000368148.3 - 41 5888 c.5708T>C c.(5707-5709)aTa>aCa p.I1903T SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.I1900T NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1903 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAGAGCCTCTATCTTGGAAGA 0.428000 29 97 0 0 0.007291 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26204885 26204885 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr6:26204885G>A ENST00000360441.4 + 1 28 c.13G>A c.(13-15)Ggc>Agc p.G5S NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 5 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.G5C(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) GTCTGGTCGCGGCAAAGGCGG 0.517000 30 63 0 0 0.009535 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121496 27121496 + Missense_Mutation SNP G G C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:27121496G>C ENST00000288699.6 + 2 287 c.129G>C c.(127-129)atG>atC p.M43I DPYSL5_ENST00000401478.1_Missense_Mutation_p.M43I NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 43 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) GCGAGCTCATGATCCCTGGCG 0.577000 11 90 0 0 0.008291 0 0 TBC1D20 128637 broad.mit.edu 37 20 420957 420957 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr20:420957C>T ENST00000354200.4 - 6 850 c.703G>A c.(703-705)Gtc>Atc p.V235I TBC1D20_ENST00000461188.1_5'UTR NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 235 Rab-GAP TBC. interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) AACCGCACGACGTGCCTGAAG 0.557000 8 48 0 0 0.003080 0 0 NFATC4 4776 broad.mit.edu 37 14 24842446 24842446 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr14:24842446C>T ENST00000413692.2 + 5 1762 c.1618C>T c.(1618-1620)Cgg>Tgg p.R540W NFATC4_ENST00000555167.1_Missense_Mutation_p.R12W|NFATC4_ENST00000554050.1_Missense_Mutation_p.R477W|NFATC4_ENST00000556279.1_Missense_Mutation_p.R509W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R490W|NFATC4_ENST00000556169.1_Missense_Mutation_p.R465W|NFATC4_ENST00000539237.2_Missense_Mutation_p.R509W|NFATC4_ENST00000250373.4_Missense_Mutation_p.R477W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R490W|NFATC4_ENST00000422617.3_Missense_Mutation_p.R465W|NFATC4_ENST00000557451.1_Missense_Mutation_p.R407W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R407W|NFATC4_ENST00000555453.1_Missense_Mutation_p.R465W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R477W|NFATC4_ENST00000554966.1_Missense_Mutation_p.R490W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R407W|NFATC4_ENST00000554591.1_Missense_Mutation_p.R540W|NFATC4_ENST00000554661.1_Missense_Mutation_p.R407W|NFATC4_ENST00000556759.1_Missense_Mutation_p.R12W|NFATC4_ENST00000554473.1_Missense_Mutation_p.R12W|NFATC4_ENST00000553469.1_Missense_Mutation_p.R509W NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 477 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) AAGGAACCTGCGGCCTCATGC 0.567000 12 42 0 0 0.013537 0 0 HELB 92797 broad.mit.edu 37 12 66717930 66717930 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr12:66717930A>G ENST00000247815.4 + 10 2524 c.2465A>G c.(2464-2466)aAt>aGt p.N822S NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 822 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TTTGCTAAAAATAAGCGTGAC 0.333000 11 42 0 0 0.003163 0 0 PCK2 5106 broad.mit.edu 37 14 24572431 24572431 + Missense_Mutation SNP C C T rs145351624 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr14:24572431C>T ENST00000545054.2 + 9 1951 c.1033C>T c.(1033-1035)Cgc>Tgc p.R345C PCK2_ENST00000559250.1_Missense_Mutation_p.R491C|PCK2_ENST00000561286.1_Missense_Mutation_p.R345C|PCK2_ENST00000216780.4_Missense_Mutation_p.R479C|PCK2_ENST00000558096.1_Intron|NRL_ENST00000561028.1_Intron Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 479 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) CAGCGCCATGCGCTCTGAGTC 0.572000 3 26 0 0 0.004672 0 0 HCRTR1 3061 broad.mit.edu 37 1 32089283 32089283 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:32089283C>T ENST00000403528.2 + 7 1283 c.898C>T c.(898-900)Ctg>Ttg p.L300L HCRTR1_ENST00000373706.5_Silent_p.L300L|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.L300L NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 300 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) AGCCAAGATGCTGATGGTGGT 0.632000 8 46 0 0 0.003080 0 0 LRIG2 9860 broad.mit.edu 37 1 113661886 113661886 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:113661886T>G ENST00000361127.4 + 17 2910 c.2712T>G c.(2710-2712)gaT>gaG p.D904E LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 904 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TTTGCTCAGATTGTTATGACA 0.413000 23 80 0 0 0.016522 0 0 SUZ12P1 440423 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 6 67 0 0 0.001168 0 0 DLGAP3 58512 broad.mit.edu 37 1 35365842 35365842 + Silent SNP G G A rs149715442 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:35365842G>A ENST00000373347.1 - 4 1408 c.1140C>T c.(1138-1140)acC>acT p.T380T DLGAP3_ENST00000235180.4_Silent_p.T380T O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 380 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane p.T380T(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CCTTGCCACCGGTGGGGTAAC 0.612000 34 122 0 0 0.019004 0 0 MCM6 4175 broad.mit.edu 37 2 136610440 136610440 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:136610440T>C ENST00000264156.2 - 12 1732 c.1672A>G c.(1672-1674)Aga>Gga p.R558G MCM6_ENST00000492091.1_Intron NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 558 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TCCTCAATTCTTGAATGCAAA 0.368000 22 38 0 0 0.012319 0 0 REG3G 130120 broad.mit.edu 37 2 79254230 79254230 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:79254230C>T ENST00000272324.5 + 4 450 c.266C>T c.(265-267)tCc>tTc p.S89F REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.S89F NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 89 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCCTTCGTGTCCTCCCTGGTG 0.537000 21 106 0 0 0.012319 0 0 BSN 8927 broad.mit.edu 37 3 49700618 49700618 + Missense_Mutation SNP G G T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr3:49700618G>T ENST00000296452.4 + 7 11141 c.11027G>T c.(11026-11028)cGc>cTc p.R3676L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3676 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GACCTGGGTCGCCATGAGGCC 0.667000 8 26 0.00307968 0.00343164 0.003080 1 0 RNF14 9604 broad.mit.edu 37 5 141359811 141359811 + Missense_Mutation SNP C C G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr5:141359811C>G ENST00000394520.2 + 6 1267 c.958C>G c.(958-960)Cag>Gag p.Q320E RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Missense_Mutation_p.Q144E|RNF14_ENST00000347642.3_Missense_Mutation_p.Q320E|RNF14_ENST00000394519.1_Missense_Mutation_p.Q320E|RNF14_ENST00000356143.1_Missense_Mutation_p.Q320E|RNF14_ENST00000394514.2_Missense_Mutation_p.Q194E NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 320 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GCCTGTGATGCAGGAACCTGG 0.567000 59 31 0 0 0.014410 0 0 TSPYL6 388951 broad.mit.edu 37 2 54483229 54483229 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:54483229C>T ENST00000317802.7 - 1 180 c.60G>A c.(58-60)ccG>ccA p.P20P ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 20 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 GGCCCTGGTGCGGGTCTTCCA 0.622000 28 124 0 0 0.007291 0 0 EID2 163126 broad.mit.edu 37 19 40030302 40030302 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:40030302G>A ENST00000390658.2 - 1 568 c.418C>T c.(418-420)Ctc>Ttc p.L140F NM_153232.3 NP_694964.3 Q8N6I1 EID2_HUMAN EP300 interacting inhibitor of differentiation 2 140 cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding large_intestine(2)|lung(1)|urinary_tract(1) 4 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CGGAGACGGAGATAGGGCAAC 0.602000 24 102 0 0 0.016522 0 0 TIAM2 26230 broad.mit.edu 37 6 155485661 155485661 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr6:155485661C>A ENST00000461783.3 + 10 3414 c.2141C>A c.(2140-2142)gCa>gAa p.A714E TIAM2_ENST00000528391.2_Missense_Mutation_p.A26E|TIAM2_ENST00000529824.2_Missense_Mutation_p.A714E|TIAM2_ENST00000456144.1_Missense_Mutation_p.A714E|TIAM2_ENST00000367174.2_Missense_Mutation_p.A66E|TIAM2_ENST00000318981.5_Missense_Mutation_p.A714E|TIAM2_ENST00000456877.2_Missense_Mutation_p.A26E|TIAM2_ENST00000360366.4_Missense_Mutation_p.A714E Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 714 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGTCTCCTTGCAGCCGCCAGC 0.552000 80 148 5.82419e-33 6.95337e-33 0.014410 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 6 0 0 0.006214 0 0 ASTN1 460 broad.mit.edu 37 1 176998825 176998825 + Silent SNP G G A rs61758728 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:176998825G>A ENST00000367654.2 - 5 1078 c.1065C>T c.(1063-1065)aaC>aaT p.N355N ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.N355N|ASTN1_ENST00000367657.3_Silent_p.N355N|ASTN1_ENST00000424564.2_Silent_p.N355N O14525 ASTN1_HUMAN astrotactin 1 355 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCTGGGGGTCGTTTTCTGCCT 0.507000 17 13 0 0 0.007413 0 0 INTS1 26173 broad.mit.edu 37 7 1523644 1523644 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:1523644T>C ENST00000389470.4 - 26 3909 c.3910A>G c.(3910-3912)Agc>Ggc p.S1304G INTS1_ENST00000404767.3_Missense_Mutation_p.S1142G Q8N201 INT1_HUMAN integrator complex subunit 1 1142 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CTCACCCAGCTGTAGACCTCC 0.687000 14 55 0 0 0.007413 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 6 59 0 0 0.006214 0 0 LCT 3938 broad.mit.edu 37 2 136566782 136566782 + Silent SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:136566782G>A ENST00000264162.2 - 8 3145 c.3135C>T c.(3133-3135)taC>taT p.Y1045Y NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1045 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AAAAGTCTGCGTAGCTGTCAA 0.493000 28 55 0 0 0.007291 0 0 NEDD4L 23327 broad.mit.edu 37 18 55996286 55996286 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr18:55996286G>A ENST00000456986.1 + 10 977 c.377G>A c.(376-378)cGg>cAg p.R126Q NEDD4L_ENST00000400345.3_Missense_Mutation_p.R247Q|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R247Q|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R126Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R126Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R126Q|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R247Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R239Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R239Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R126Q|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R247Q|NEDD4L_ENST00000589054.1_Intron NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 247 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 GCAGCACACCGGCGCTTCCGC 0.602000 22 14 0 0 0.014323 0 0 NSD1 64324 broad.mit.edu 37 5 176709563 176709563 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr5:176709563A>G ENST00000439151.2 + 19 6035 c.5990A>G c.(5989-5991)tAt>tGt p.Y1997C NSD1_ENST00000361032.4_Missense_Mutation_p.Y1894C|NSD1_ENST00000354179.4_Missense_Mutation_p.Y1728C|NSD1_ENST00000347982.4_Missense_Mutation_p.Y1728C NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1997 S-adenosyl-L-methionine binding.|SET. Y -> C (in WES). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ACTAATTTCTATATGCTCACC 0.373000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 50 21 0 0 0.014410 0 0 TRPS1 7227 broad.mit.edu 37 8 116430580 116430580 + Missense_Mutation SNP C C G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr8:116430580C>G ENST00000395715.3 - 6 3378 c.2801G>C c.(2800-2802)gGc>gCc p.G934A TRPS1_ENST00000220888.5_Missense_Mutation_p.G921A|TRPS1_ENST00000520276.1_Missense_Mutation_p.G925A|TRPS1_ENST00000519076.1_Missense_Mutation_p.G675A NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 921 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTGGTAGAGGCCACACGCGTT 0.483000 Langer-Giedion syndrome 137 31 0 0 0.014410 0 0 INTS1 26173 broad.mit.edu 37 7 1523641 1523641 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:1523641A>G ENST00000389470.4 - 26 3912 c.3913T>C c.(3913-3915)Tgg>Cgg p.W1305R INTS1_ENST00000404767.3_Missense_Mutation_p.W1143R Q8N201 INT1_HUMAN integrator complex subunit 1 1143 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GCCCTCACCCAGCTGTAGACC 0.687000 14 55 0 0 0.006122 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 60 0 0 0.009096 0 0 NPY5R 4889 broad.mit.edu 37 4 164271702 164271702 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr4:164271702T>C ENST00000515560.1 + 4 1799 c.277T>C c.(277-279)Ttt>Ctt p.F93L NPY5R_ENST00000506953.1_Missense_Mutation_p.F93L|NPY5R_ENST00000338566.3_Missense_Mutation_p.F93L Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 93 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) GGTTGTGCTGTTTTGCTCACC 0.403000 66 148 0 0 0.014410 0 0 LILRB4 11006 broad.mit.edu 37 19 55175317 55175317 + Missense_Mutation SNP G G C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:55175317G>C ENST00000391736.1 + 5 491 c.176G>C c.(175-177)cGt>cCt p.R59P LILRB4_ENST00000270452.2_Missense_Mutation_p.R59P|LILRB4_ENST00000430952.2_Missense_Mutation_p.R59P|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59P|LILRB4_ENST00000391733.3_Missense_Mutation_p.R59P NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 59 Ig-like C2-type 1. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CGGGAGTACCGTCTGGATAAA 0.587000 37 118 0 0 0.019004 0 0 HDAC9 9734 broad.mit.edu 37 7 18975526 18975526 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:18975526T>G ENST00000406451.3 + 23 3039 c.2889T>G c.(2887-2889)gaT>gaG p.D963E HDAC9_ENST00000441542.2_Missense_Mutation_p.D966E|HDAC9_ENST00000432645.2_Missense_Mutation_p.D963E|HDAC9_ENST00000401921.1_Missense_Mutation_p.D922E NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 963 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CCATCTGTGATGCATCAGAAG 0.438000 36 96 0 0 0.015359 0 0 H2AFJ 55766 broad.mit.edu 37 12 14927722 14927722 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr12:14927722C>T ENST00000544848.1 + 1 453 c.318C>T c.(316-318)ggC>ggT p.G106G NM_177925.2 NP_808760.1 Q9BTM1 H2AJ_HUMAN H2A histone family, member J 106 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1) 5 TCGCTCAGGGCGGCGTCCTGC 0.597000 4 108 0 0 0.009096 0 0 AATK 9625 broad.mit.edu 37 17 79108261 79108261 + Silent SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr17:79108261G>A ENST00000326724.4 - 2 120 c.96C>T c.(94-96)ctC>ctT p.L32L NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 32 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CCACCACGGCGAGGGAGGATG 0.677000 16 25 0 0 0.004990 0 0 TBC1D4 9882 broad.mit.edu 37 13 75873599 75873599 + Missense_Mutation SNP C C G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr13:75873599C>G ENST00000377636.3 - 17 3369 c.3023G>C c.(3022-3024)tGt>tCt p.C1008S TBC1D4_ENST00000425511.1_Missense_Mutation_p.C172S|TBC1D4_ENST00000377625.2_Missense_Mutation_p.C945S|TBC1D4_ENST00000431480.2_Missense_Mutation_p.C1000S|TBC1D4_ENST00000478591.1_5'UTR NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1008 Rab-GAP TBC. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GATCCCCTGACAGTATCCCAC 0.493000 7 120 0 0 0.001984 0 0 FMN2 56776 broad.mit.edu 37 1 240601400 240601400 + Missense_Mutation SNP A A T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:240601400A>T ENST00000319653.9 + 16 5180 c.4950A>T c.(4948-4950)aaA>aaT p.K1650N FMN2_ENST00000545751.1_Missense_Mutation_p.K246N NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1650 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGAAACCAAAACTTGGAGAGA 0.383000 8 77 0 0 0.004482 0 0 IL1R2 7850 broad.mit.edu 37 2 102636165 102636165 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:102636165C>T ENST00000332549.3 + 5 808 c.579C>T c.(577-579)ctC>ctT p.L193L IL1R2_ENST00000393414.2_Silent_p.L193L|IL1R2_ENST00000441002.1_Silent_p.L193L NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 193 Ig-like C2-type 2. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) CTCACTTACTCGTACACGATG 0.418000 9 21 0 0 0.004482 0 0 BICC1 80114 broad.mit.edu 37 10 60549208 60549208 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr10:60549208G>A ENST00000373886.3 + 7 791 c.787G>A c.(787-789)Gct>Act p.A263T NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 263 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TAACACTAGTGCTGTGAAGGT 0.328000 31 36 0 0 0.010818 0 0 MTRR 4552 broad.mit.edu 37 5 7873624 7873624 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr5:7873624C>T ENST00000264668.2 + 3 379 c.349C>T c.(349-351)Cgg>Tgg p.R117W MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_Missense_Mutation_p.R90W|MTRR_ENST00000341013.6_Intron NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 117 Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TGCTCACCTGCGGTATGGGTT 0.448000 17 69 0 0 0.007413 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218231 130218231 + Missense_Mutation SNP G G T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:130218231G>T ENST00000276211.5 + 5 943 c.598G>T c.(598-600)Gcc>Tcc p.A200S ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A64S|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A188S NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 200 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GGAAGACGGAGCCCTGCTGCT 0.463000 13 9 1.5842e-08 1.81717e-08 0.016723 1 0 EPN2 22905 broad.mit.edu 37 17 19188962 19188962 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr17:19188962C>T ENST00000314728.5 + 4 1109 c.625C>T c.(625-627)Cgc>Tgc p.R209C EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000395620.2_Intron|EPN2_ENST00000571254.1_Intron|EPN2_ENST00000347697.2_Intron|EPN2_ENST00000395626.1_Missense_Mutation_p.R209C NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 209 endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) cccccagcaccgcacaggggc 0.697000 3 10 0 0 0.004672 0 0 LRRTM3 347731 broad.mit.edu 37 10 68686715 68686715 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr10:68686715T>C ENST00000361320.4 + 2 619 c.41T>C c.(40-42)gTa>gCa p.V14A CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 14 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 GGATCAGCTGTAGCACTGGTT 0.413000 22 28 0 0 0.014323 0 0 OR4C16 219428 broad.mit.edu 37 11 55339991 55339991 + Missense_Mutation SNP T T A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:55339991T>A ENST00000314634.3 + 1 388 c.388T>A c.(388-390)Tac>Aac p.Y130N NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) GCCCCTGCACTACATGACCAT 0.502000 61 95 0 0 0.014410 0 0 CUX1 1523 broad.mit.edu 37 7 101844779 101844779 + Silent SNP C C T rs150235372 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:101844779C>T ENST00000360264.3 + 18 2255 c.2235C>T c.(2233-2235)tcC>tcT p.S745S CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Silent_p.S632S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Silent_p.S734S|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.S576S|CUX1_ENST00000550008.2_Silent_p.S678S|CUX1_ENST00000549414.2_Silent_p.S712S NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 734 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S734S(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CACCACTGTCCCAGAGTGACA 0.632000 22 318 0 0 0.016522 0 0 PRKRIR 5612 broad.mit.edu 37 11 76061960 76061960 + Missense_Mutation SNP G G C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:76061960G>C ENST00000260045.3 - 5 2339 c.2234C>G c.(2233-2235)aCa>aGa p.T745R NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 745 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity p.T745R(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TGACTTACTTGTATAGAGTTT 0.313000 6 23 0 0 0.013537 0 0 DNAH17 8632 broad.mit.edu 37 17 76481086 76481086 + Missense_Mutation SNP A A T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr17:76481086A>T ENST00000389840.5 - 48 7595 c.7471T>A c.(7471-7473)Tcg>Acg p.S2491T DNAH17_ENST00000585328.1_Missense_Mutation_p.S2500T|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCCTCCCCGATTTCTTCTCC 0.632000 13 17 0 0 0.020292 0 0 IL9R 3581 broad.mit.edu 37 X 155233408 155233408 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:155233408A>G ENST00000540897.1 + 5 493 c.425A>G c.(424-426)cAc>cGc p.H142R IL9R_ENST00000424344.3_Silent_p.P86P|IL9R_ENST00000244174.5_Silent_p.P107P|IL9R_ENST00000369423.2_Missense_Mutation_p.H152R NM_176786.1 NP_789743.2 Q01113 IL9R_HUMAN interleukin 9 receptor 96 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 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) TCGTGCTGCCACCTGAGGCAG 0.607000 9 19 0 0 0.004482 0 0 MROH5 389690 broad.mit.edu 37 8 142445304 142445304 + RNA SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr8:142445304G>A ENST00000606664.1 + 0 660 MROH5_ENST00000430863.1_RNA TGCAGTAGCCGCCAGCGGAGC 0.667000 56 18 0 0 0.014410 0 0 DOLK 22845 broad.mit.edu 37 9 131708963 131708963 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr9:131708963T>G ENST00000372586.3 - 1 935 c.620A>C c.(619-621)cAg>cCg p.Q207P RP11-101E3.5_ENST00000482796.1_Intron NM_014908.3 NP_055723.1 Q9UPQ8 DOLK_HUMAN dolichol kinase 207 dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 11 CTTGATGAGCTGGTTGAGGAC 0.542000 40 35 0 0 0.006230 0 0 NACA 4666 broad.mit.edu 37 12 57111165 57111165 + Silent SNP A A T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr12:57111165A>T ENST00000454682.1 - 3 4430 c.4149T>A c.(4147-4149)gcT>gcA p.A1383A NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GAGGAGTCATAGCGGGACCTC 0.597000 T BCL6 NHL 10 23 0 0 0.006214 0 0 TLCD1 116238 broad.mit.edu 37 17 27051713 27051713 + Missense_Mutation SNP G G C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr17:27051713G>C ENST00000292090.3 - 4 669 c.559C>G c.(559-561)Cag>Gag p.Q187E TLCD1_ENST00000394933.3_Missense_Mutation_p.Q140E NM_138463.3 NP_612472.1 Q96CP7 TLCD1_HUMAN TLC domain containing 1 187 TLC. integral to membrane breast(2)|endometrium(1)|kidney(2)|lung(2) 7 Lung NSC(42;0.00431) AGGTAGGCCTGAGGGGCCAGG 0.502000 7 108 0 0 0.003080 0 0 KLHL7 55975 broad.mit.edu 37 7 23213806 23213806 + Silent SNP C C T rs142565112 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:23213806C>T ENST00000322231.7 + 12 2074 c.1584C>T c.(1582-1584)acC>acT p.T528T AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000409689.1_Silent_p.T502T|KLHL7_ENST00000339077.4_Silent_p.T550T|KLHL7_ENST00000545443.1_Silent_p.T528T|KLHL7_ENST00000542558.1_Silent_p.T325T|KLHL7_ENST00000539124.1_Silent_p.T474T Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 550 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AATATAATACCGAAACAGACA 0.423000 27 46 0 0 0.009535 0 0 OR5L2 26338 broad.mit.edu 37 11 55594850 55594850 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:55594850C>A ENST00000378397.1 + 1 156 c.156C>A c.(154-156)agC>agA p.S52R NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TTCAGGTCAGCTCTCGGCTCC 0.478000 HNSCC(27;0.073) 101 220 4.49162e-49 5.41773e-49 0.014410 1 0 EPHX1 2052 broad.mit.edu 37 1 226027611 226027611 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:226027611C>T ENST00000366837.4 + 6 1000 c.804C>T c.(802-804)ttC>ttT p.F268F EPHX1_ENST00000272167.5_Silent_p.F268F NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 268 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) GACAGCGTTTCGGGAGGTTTC 0.552000 41 147 0 0 0.007835 0 0 SRRT 51593 broad.mit.edu 37 7 100484575 100484575 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:100484575G>A ENST00000388793.4 + 14 2024 c.1804G>A c.(1804-1806)Gag>Aag p.E602K SRRT_ENST00000457580.2_Missense_Mutation_p.E603K|SRRT_ENST00000432932.1_Missense_Mutation_p.E602K|SRRT_ENST00000347433.4_Missense_Mutation_p.E603K NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 603 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GGAGCGGGATGAGAAGTTGAT 0.647000 30 196 0 0 0.012213 0 0 POLD1 5424 broad.mit.edu 37 19 50906777 50906777 + Missense_Mutation SNP G G C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:50906777G>C ENST00000440232.2 + 10 1218 c.1165G>C c.(1165-1167)Gac>Cac p.D389H POLD1_ENST00000595904.1_Missense_Mutation_p.D389H|POLD1_ENST00000599857.1_Missense_Mutation_p.D389H NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 389 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CCGTATCATGGACCCCGACGT 0.597000 DNA polymerases (catalytic subunits) 19 138 0 0 0.014323 0 0 MOV10L1 54456 broad.mit.edu 37 22 50546633 50546633 + Missense_Mutation SNP G G A rs147590689 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr22:50546633G>A ENST00000262794.5 + 4 594 c.511G>A c.(511-513)Gaa>Aaa p.E171K MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E171K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E171K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E151K NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 171 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding p.E151K(1)|p.E171K(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GTGGAGCAGCGAAGCCACCTC 0.602000 7 19 0 0 0.003080 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435651 5435651 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr10:5435651C>T ENST00000380419.3 - 4 1207 c.1170G>A c.(1168-1170)gcG>gcA p.A390A TUBAL3_ENST00000479328.1_Silent_p.A350A NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 390 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 CCTCCACAATCGCCGTGGTGT 0.592000 31 46 0 0 0.010818 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777750 18777750 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr9:18777750C>A ENST00000380548.4 + 19 3862 c.3523C>A c.(3523-3525)Cag>Aag p.Q1175K NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1175 Ig-like C2-type 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) AGCGGCCCAGCAGCTCTCAGC 0.692000 13 15 0.00136819 0.00153922 0.013537 1 0 DHX33 56919 broad.mit.edu 37 17 5357145 5357145 + Nonsense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr17:5357145G>A ENST00000225296.3 - 7 1503 c.1303C>T c.(1303-1305)Cag>Tag p.Q435* DHX33_ENST00000433302.3_Nonsense_Mutation_p.Q211* NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 435 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GCCTACCTCTGGATCTCTGGC 0.562000 5 41 0 0 0.014758 0 0 COL4A4 1286 broad.mit.edu 37 2 227966581 227966581 + Splice_Site SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:227966581C>A ENST00000396625.3 - 16 1182 c.975_splice c.e16+1 p.K325_splice COL4A4_ENST00000329662.7_Splice_Site_p.K325_splice NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 325 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GTACATTTACCTTTAATCCTG 0.318000 5 7 0.00116845 0.00132726 0.001168 1 0 PCDH11X 27328 broad.mit.edu 37 X 91873697 91873697 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:91873697C>A ENST00000373094.1 + 7 4647 c.3802C>A c.(3802-3804)Cat>Aat p.H1268N PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1231N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1231N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1258N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1250N|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1260N NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1268 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TATTGCCCTCCATCGTAGTCA 0.562000 73 83 2.81854e-13 3.26504e-13 0.014410 1 0 GABRA2 2555 broad.mit.edu 37 4 46334667 46334667 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr4:46334667C>T ENST00000510861.1 - 4 393 c.220G>A c.(220-222)Gtg>Atg p.V74M GABRA2_ENST00000515082.1_Missense_Mutation_p.V74M|GABRA2_ENST00000514090.1_Missense_Mutation_p.V74M|GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000356504.1_Missense_Mutation_p.V74M|GABRA2_ENST00000507069.1_Missense_Mutation_p.V74M|GABRA2_ENST00000381620.4_Missense_Mutation_p.V74M P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 74 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAACTGGTCACGTAGATGTTA 0.343000 14 34 0 0 0.004007 0 0 BRINP3 339479 broad.mit.edu 37 1 190129849 190129849 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:190129849C>A ENST00000367462.3 - 7 1364 c.1133G>T c.(1132-1134)aGc>aTc p.S378I FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S276I NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 378 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CTTGCTAAGGCTAAAAAGCTT 0.393000 39 44 9.84934e-19 1.15237e-18 0.010771 1 0 GDA 9615 broad.mit.edu 37 9 74834409 74834409 + Missense_Mutation SNP T T A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr9:74834409T>A ENST00000358399.3 + 6 686 c.593T>A c.(592-594)aTg>aAg p.M198K GDA_ENST00000376989.3_Missense_Mutation_p.M173K|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.M124K|GDA_ENST00000376986.1_Missense_Mutation_p.M156K|GDA_ENST00000238018.4_Missense_Mutation_p.M198K NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 198 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GTGTCAGAAATGCTCCAAAAG 0.323000 10 15 0 0 0.016723 0 0 SYNE3 161176 broad.mit.edu 37 14 95921839 95921839 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr14:95921839T>G ENST00000334258.5 - 5 1026 c.1012A>C c.(1012-1014)Aag>Cag p.K338Q SYNE3_ENST00000557275.1_Missense_Mutation_p.K338Q|SYNE3_ENST00000554873.1_Missense_Mutation_p.K95Q|SYNE3_ENST00000553340.1_Missense_Mutation_p.K338Q NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 TCCAGCTGCTTAATCTGCTGC 0.667000 3 114 0 0 0.004672 0 0 REV1 51455 broad.mit.edu 37 2 100055565 100055565 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:100055565C>T ENST00000258428.3 - 6 939 c.711G>A c.(709-711)aaG>aaA p.K237K REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.K237K NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 237 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AATCCTGTGTCTTTAAGGCAC 0.512000 Direct reversal of damage 4 34 0 0 0.009096 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370532 38370532 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr5:38370532G>A ENST00000322350.5 + 6 1026 c.680G>A c.(679-681)cGc>cAc p.R227H EGFLAM_ENST00000354891.3_Missense_Mutation_p.R227H NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 227 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse p.R227L(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CCCAGCCCCCGCAGCTGGCCC 0.577000 5 21 0 0 0.014758 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581529 40581529 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:40581529C>T ENST00000450241.2 - 6 1029 c.718G>A c.(718-720)Gta>Ata p.V240I ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I O75290 Z780A_HUMAN zinc finger protein 780A 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TATGGTTTTACACCAGAATGA 0.388000 5 219 0 0 0.001168 0 0 DMD 1756 broad.mit.edu 37 X 31838157 31838157 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:31838157C>T ENST00000357033.4 - 50 7450 c.7244G>A c.(7243-7245)cGt>cAt p.R2415H DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.R2411H|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2415 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTGAAGTAAACGGTTTACCGC 0.428000 20 12 0 0 0.018920 0 0 TLE6 79816 broad.mit.edu 37 19 2987144 2987144 + Missense_Mutation SNP A A G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:2987144A>G ENST00000246112.4 + 7 650 c.449A>G c.(448-450)aAg>aGg p.K150R TLE6_ENST00000452088.1_Missense_Mutation_p.K27R|TLE6_ENST00000478073.2_3'UTR NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 27 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCTGGGACAAGGAGCCTTGG 0.597000 19 89 0 0 0.007413 0 0 MTA2 9219 broad.mit.edu 37 11 62362870 62362870 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:62362870T>C ENST00000278823.2 - 14 1738 c.1349A>G c.(1348-1350)aAc>aGc p.N450S MTA2_ENST00000524902.1_Missense_Mutation_p.N277S|MTA2_ENST00000527204.1_Missense_Mutation_p.N277S NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 450 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 AGTTTGTCTGTTCTTAGCCAG 0.537000 69 71 0 0 0.014410 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185156 130185156 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr12:130185156G>A ENST00000422113.2 - 2 493 c.167C>T c.(166-168)gCg>gTg p.A56V NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 56 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGAGACGTCCGCGTTGTTGAT 0.557000 27 36 0 0 0.004656 0 0 HERC2 8924 broad.mit.edu 37 15 28389924 28389924 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr15:28389924C>T ENST00000261609.7 - 72 11143 c.11035G>A c.(11035-11037)Gag>Aag p.E3679K NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3679 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATGCGCAGCTCGCTGGACCAG 0.572000 15 34 0 0 0.020292 0 0 TNFSF4 7292 broad.mit.edu 37 1 173155865 173155865 + Silent SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:173155865G>A ENST00000281834.3 - 3 478 c.342C>T c.(340-342)aaC>aaT p.N114N TNFSF4_ENST00000367718.1_Silent_p.N64N NM_003326.3 NP_003317.1 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, member 4 114 acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 12 GAAGGCTAATGTTGACTTCCT 0.468000 13 48 0 0 0.016723 0 0 WASH6P 653440 broad.mit.edu 37 X 155254983 155254983 + RNA SNP G G C rs140608299 by1000genomes TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:155254983G>C ENST00000285718.7 + 0 1288 WASH6P_ENST00000461007.1_RNA CATCCCTCCTGTGCCCCCACC 0.647000 6 29 0 0 0.001984 0 0 AK9 221264 broad.mit.edu 37 6 109962806 109962806 + Missense_Mutation SNP C C T rs148448147 byFrequency TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr6:109962806C>T ENST00000424296.2 - 10 924 c.848G>A c.(847-849)cGa>cAa p.R283Q AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.R283Q|AK9_ENST00000368948.2_Missense_Mutation_p.R283Q NM_001145128.2 NP_001138600.2 adenylate kinase 9 p.R283Q(2) ATATTTAAGTCGATCCATAAC 0.348000 18 30 0 0 0.004990 0 0 LINC00969 440993 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 3 86 0 0 0.001984 0 0 AHR 196 broad.mit.edu 37 7 17382646 17382646 + Missense_Mutation SNP A A T rs146912085 TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:17382646A>T ENST00000242057.4 + 11 3148 c.2505A>T c.(2503-2505)gaA>gaT p.E835D NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 835 LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) ATCCGTCAGAAGCCAGACCTT 0.373000 77 87 0 0 0.014410 0 0 SIRPG 55423 broad.mit.edu 37 20 1629753 1629753 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr20:1629753C>T ENST00000381580.1 - 2 455 c.276G>A c.(274-276)ggG>ggA p.G92G SIRPG_ENST00000344103.4_Silent_p.G125G|SIRPG_ENST00000381583.2_Silent_p.G125G|SIRPG_ENST00000216927.4_Silent_p.G125G|SIRPG_ENST00000303415.3_Silent_p.G125G Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 125 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TCTCAGGGCTCCCTTTTCGAA 0.498000 55 83 0 0 0.014410 0 0 KLHL24 54800 broad.mit.edu 37 3 183368865 183368865 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr3:183368865G>A ENST00000454652.1 + 4 1107 c.721G>A c.(721-723)Gtt>Att p.V241I KLHL24_ENST00000476808.1_Missense_Mutation_p.V241I|KLHL24_ENST00000242810.6_Missense_Mutation_p.V241I Q6TFL4 KLH24_HUMAN kelch-like family member 24 241 BACK. axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CTATCGTGCCGTTGATCTGAG 0.418000 13 53 0 0 0.013537 0 0 WDR62 284403 broad.mit.edu 37 19 36550887 36550887 + Missense_Mutation SNP T T G TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:36550887T>G ENST00000401500.2 + 3 322 c.287T>G c.(286-288)tTg>tGg p.L96W WDR62_ENST00000388999.3_Missense_Mutation_p.L96W|WDR62_ENST00000270301.7_Missense_Mutation_p.L96W|WDR62_ENST00000378860.4_3'UTR NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 96 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GTGGTGATTTTGGACCCCAAG 0.582000 3 156 0 0 0.009096 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102988373 102988373 + Silent SNP A A T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:102988373A>T ENST00000375735.2 + 6 924 c.780A>T c.(778-780)ggA>ggT p.G260G DYNC2H1_ENST00000398093.3_Silent_p.G260G|DYNC2H1_ENST00000334267.7_Silent_p.G260G NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 260 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GTTCATTTGGAAGGTTTGTTC 0.289000 11 356 0 0 0.013537 0 0 ABCF1 23 broad.mit.edu 37 6 30546133 30546133 + Missense_Mutation SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr6:30546133C>A ENST00000326195.8 + 5 464 c.352C>A c.(352-354)Cca>Aca p.P118T ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.P118T NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 118 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 AGTACCCGCCCCAAAACCCCG 0.498000 4 78 0.00909568 0.00994574 0.009096 1 0 ZNF24 7572 broad.mit.edu 37 18 32917689 32917689 + Missense_Mutation SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr18:32917689T>C ENST00000261332.6 - 4 793 c.614A>G c.(613-615)gAg>gGg p.E205G ZNF24_ENST00000399061.3_Missense_Mutation_p.E205G|ZNF24_ENST00000589881.1_3'UTR NM_006965.2 NP_008896.2 P17028 ZNF24_HUMAN zinc finger protein 24 205 myelination|negative regulation of transcription, DNA-dependent|viral reproduction nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 15 TGAAGGAAGCTCCTGCTTTGG 0.388000 56 42 0 0 0.014410 0 0 TRAV20 28663 broad.mit.edu 37 14 22508941 22508941 + RNA SNP C C A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr14:22508941C>A ENST00000390448.3 + 0 102 CATTCATAGTCTTGTGGCTTC 0.423000 51 41 4.88482e-21 5.77297e-21 0.014410 1 0 CHRDL1 91851 broad.mit.edu 37 X 109943927 109943927 + Silent SNP T T C TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chrX:109943927T>C ENST00000218054.4 - 7 757 c.561A>G c.(559-561)gaA>gaG p.E187E CHRDL1_ENST00000394797.4_Silent_p.E187E|CHRDL1_ENST00000434224.1_Silent_p.E108E|CHRDL1_ENST00000372042.1_Silent_p.E188E|CHRDL1_ENST00000482160.1_Silent_p.E108E|CHRDL1_ENST00000372045.1_Silent_p.E181E|CHRDL1_ENST00000444321.2_Silent_p.E187E NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 181 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 CATCAGAATGTTCCCATGACA 0.403000 12 28 0 0 0.013537 0 0 LRRC66 339977 broad.mit.edu 37 4 52862054 52862054 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr4:52862054C>T ENST00000343457.3 - 4 1140 c.1134G>A c.(1132-1134)gcG>gcA p.A378A NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 378 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ACAGGCACACCGCCAGAGCCA 0.562000 32 59 0 0 0.010818 0 0 ZBP1 81030 broad.mit.edu 37 20 56191333 56191333 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr20:56191333C>T ENST00000340462.4 - 2 506 c.226G>A c.(226-228)Gag>Aag p.E76K ZBP1_ENST00000371173.3_Missense_Mutation_p.E76K|ZBP1_ENST00000541799.1_Missense_Mutation_p.E76K|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000343535.4_Missense_Mutation_p.E76K Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 76 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GCAGGACCCTCGCCTTCAGGA 0.607000 15 43 0 0 0.006122 0 0 CHD5 26038 broad.mit.edu 37 1 6202630 6202632 + In_Frame_Del DEL GAT GAT - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:6202630_6202632delGAT ENST00000262450.3 - 14 2176_2178 c.2077_2079delATC c.(2077-2079)del p.I693del CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 693 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTGTGGAGTCGATGTACCATGGC 0.635 18 72 --- --- --- --- SPOCD1 90853 broad.mit.edu 37 1 32263807 32263824 + Splice_Site DEL CCCTTTTCTCCTCCTGGT CCCTTTTCTCCTCCTGGT - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr1:32263807_32263824delCCCTTTTCTCCTCCTGGT ENST00000360482.2 - 9 2258_2275 c.2145_splice c.e9+1 p.DQEEKRG710_splice SPOCD1_ENST00000257100.3_Splice_Site_p.DQEEKRG203_splice|SPOCD1_ENST00000533231.1_Splice_Site_p.DQEEKRG710_splice|SPOCD1_ENST00000373648.2_3'UTR NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 710 TFIIS central. transcription, DNA-dependent p.E713K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TCAGCACTCACCCTTTTCTCCTCCTGGTCCCGCCAGCG 0.624 8 64 --- --- --- --- LINC01317 104355287 broad.mit.edu 37 2 33952117 33952117 + RNA DEL A A - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:33952117delA ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA AGACCTTGACAAAAACCAGGT 0.537 10 7 --- --- --- --- RGPD4 285190 broad.mit.edu 37 2 108478175 108478175 + Frame_Shift_Del DEL A A - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:108478175delA ENST00000408999.3 + 15 2261 c.2184delA c.(2182-2184)tcfs p.S728fs RGPD4_ENST00000354986.4_Frame_Shift_Del_p.S728fs NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 728 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ACAGTGATTCAAATCTTTCAG 0.373 8 45 --- --- --- --- NCL 4691 broad.mit.edu 37 2 232326373 232326378 + In_Frame_Del DEL TCCTCG TCCTCG - rs151176710 byFrequency TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr2:232326373_232326378delTCCTCG ENST00000322723.4 - 3 726_731 c.486_491delCGAGGA c.(484-492)gat>ga p.DED162del NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 162 Asp/Glu-rich (acidic). angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) ttcatcctcatcctcgtcctcgtcat 0.519 22 44 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149483094 149483094 + RNA DEL G G - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr7:149483094delG ENST00000378016.2 + 0 3244 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) aagaagggctggaCAGGGGAG 0.537 5 2 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- FIBCD1 84929 broad.mit.edu 37 9 133805423 133805423 + Frame_Shift_Del DEL C C - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr9:133805423delC ENST00000372338.4 - 2 325 c.83delG c.(82-84)tcfs p.C28fs FIBCD1_ENST00000448616.1_Frame_Shift_Del_p.C28fs|FIBCD1_ENST00000372337.2_5'UTR|FIBCD1_ENST00000253018.4_5'UTR NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 28 signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) CACGTAGCCGCAGCTCGGCCG 0.682 2 4 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129902204 129902205 + Frame_Shift_Del DEL TG TG - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr10:129902204_129902205delTG ENST00000368654.3 - 13 8274_8275 c.7899_7900delCA c.(7897-7902)caaafs p.HK2633fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2633 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCTGGTTCTTTGTGTGTGTGTG 0.500 7 110 --- --- --- --- FOLR1 2348 broad.mit.edu 37 11 71903251 71903253 + In_Frame_Del DEL CTT CTT - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr11:71903251_71903253delCTT ENST00000393679.1 + 2 470_472 c.34_36delCTT c.(34-36)del p.L13del FOLR1_ENST00000393676.3_In_Frame_Del_p.L13del|FOLR1_ENST00000393681.2_In_Frame_Del_p.L13del|FOLR1_ENST00000312293.4_In_Frame_Del_p.L13del|RP11-807H22.7_ENST00000378140.3_RNA P15328 FOLR1_HUMAN folate receptor 1 (adult) 13 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 GCTGCTGCTCCTTCTAGTGTGGG 0.547 37 99 --- --- --- --- PPL 5493 broad.mit.edu 37 16 4945271 4945272 + Frame_Shift_Ins INS - - T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr16:4945271_4945272insT ENST00000345988.2 - 11 1321_1322 c.1232_1233insA c.(1231-1233)gggfs p.G411fs PPL_ENST00000590782.2_Frame_Shift_Ins_p.G409fs NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 411 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CCTGCTCCCCCTCAAAGTCACA 0.629 14 39 --- --- --- --- CCDC124 115098 broad.mit.edu 37 19 18053527 18053529 + In_Frame_Del DEL GGA GGA - TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:18053527_18053529delGGA ENST00000597436.1 + 3 329_331 c.222_224delGGA c.(220-225)ctg>ct p.LE74del CCDC124_ENST00000445755.2_In_Frame_Del_p.LE74del NM_138442.3 NP_612451.1 Q96CT7 CC124_HUMAN coiled-coil domain containing 124 74 DNA binding central_nervous_system(1)|kidney(2) 3 AGCGCCTACTGGAGGAGGAGGAC 0.675 2 4 --- --- --- --- ZNF420 147923 broad.mit.edu 37 19 37619779 37619780 + Frame_Shift_Ins INS - - T rs142983916 by1000genomes TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b5b07b4-29ef-4a55-b6ab-93352613f631 0a609d02-a7e6-4a46-8d4e-48923c54d349 g.chr19:37619779_37619780insT ENST00000337995.3 + 5 2101_2102 c.1886_1887insT c.(1885-1887)cctfs p.P629fs ZNF420_ENST00000586540.1_3'UTR|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 629 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGAGTTCACATCTTTCTCGGC 0.426 38 35 --- --- --- ---