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 PLEC 5339 broad.mit.edu 37 8 145007232 145007232 + Missense_Mutation SNP T T A TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr8:145007232T>A ENST00000322810.4 - 14 2046 c.1877A>T c.(1876-1878)aAc>aTc p.N626I PLEC_ENST00000527096.1_Missense_Mutation_p.N512I|PLEC_ENST00000356346.3_Missense_Mutation_p.N475I|PLEC_ENST00000357649.2_Missense_Mutation_p.N493I|PLEC_ENST00000436759.2_Missense_Mutation_p.N516I|PLEC_ENST00000398774.2_Missense_Mutation_p.N457I|PLEC_ENST00000354958.2_Missense_Mutation_p.N467I|PLEC_ENST00000354589.3_Missense_Mutation_p.N489I|PLEC_ENST00000345136.3_Missense_Mutation_p.N489I NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 626 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CAGCCGTAGGTTGTACTCGGT 0.672000 6 5 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23345043 23345043 + Missense_Mutation SNP C C T TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr14:23345043C>T ENST00000359591.4 + 5 1577 c.886C>T c.(886-888)Cgt>Tgt p.R296C LRP10_ENST00000546834.1_Missense_Mutation_p.R296C NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 296 CUB 2. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GAGCAATGGTCGTGGCTTCAA 0.582000 23 68 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 71 0 0 1 0 0 KCNC3 3748 broad.mit.edu 37 19 50823987 50823987 + Nonsense_Mutation SNP G G A TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr19:50823987G>A ENST00000391818.2 - 2 101 c.43C>T c.(43-45)Cag>Tag p.Q15* KCNC3_ENST00000376959.2_Missense_Mutation_p.P678L|KCNC3_ENST00000477616.1_Missense_Mutation_p.P678L|KCNC3_ENST00000474951.1_5'UTR Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 29 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GTCAATGGCTGGGCAGTCCTC 0.642000 5 39 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 6 117 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123210305 123210305 + Nonsense_Mutation SNP G G A TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr9:123210305G>A ENST00000349780.4 - 22 3072 c.2893C>T c.(2893-2895)Cag>Tag p.Q965* CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q933*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q965*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q965* NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 965 Interaction with MAPRE1. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 ATCTGGCTCTGCAGCTGCGTC 0.498000 9 109 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141244422 141244422 + Missense_Mutation SNP G G A TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr5:141244422G>A ENST00000287008.3 - 3 1621 c.1474C>T c.(1474-1476)Ctc>Ttc p.L492F PCDH1_ENST00000536585.1_Missense_Mutation_p.L470F|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.L480F|PCDH1_ENST00000394536.3_Missense_Mutation_p.L492F NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 492 Cadherin 4. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TGCACCTTGAGGGAGTTAGTG 0.542000 19 126 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82611440 82611440 + Missense_Mutation SNP C C T TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr11:82611440C>T ENST00000313010.3 - 1 199 c.5G>A c.(4-6)gGc>gAc p.G2D PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.G2D NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 2 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 GGCTCGGCGGCCCATGGCTCA 0.687000 9 30 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182812436 182812436 + Missense_Mutation SNP T T G TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr1:182812436T>G ENST00000367549.3 + 3 229 c.119T>G c.(118-120)gTg>gGg p.V40G NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 40 DRBM 1.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding p.V40G(8) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AAGGTTCAGGTGGAAGGTTAT 0.333000 11 40 0 0 1 0 0 PLSCR4 57088 broad.mit.edu 37 3 145914466 145914466 + Missense_Mutation SNP G G A TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr3:145914466G>A ENST00000354952.2 - 7 979 c.739C>T c.(739-741)Cgt>Tgt p.R247C PLSCR4_ENST00000493382.1_Missense_Mutation_p.R247C|PLSCR4_ENST00000433593.2_Missense_Mutation_p.R142C|PLSCR4_ENST00000383083.2_Missense_Mutation_p.R157C|PLSCR4_ENST00000446574.2_Missense_Mutation_p.R247C NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 247 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 CATGGCCCACGAACTCTCATC 0.423000 43 75 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138191501 138191501 + Silent SNP C C T TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr3:138191501C>T ENST00000389567.4 + 18 2223 c.2037C>T c.(2035-2037)atC>atT p.I679I NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 679 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 GTGAGCCCATCGGGGAGAAGA 0.597000 30 85 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88534400 88534400 + Silent SNP C C T TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr4:88534400C>T ENST00000399271.1 + 4 1182 c.1062C>T c.(1060-1062)cgC>cgT p.R354R RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.R354R NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 354 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AAAGCAAACGCGTAGAAAATA 0.418000 28 39 0 0 1 0 0 ZNF644 84146 broad.mit.edu 37 1 91403245 91403245 + Missense_Mutation SNP C C A TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr1:91403245C>A ENST00000370440.1 - 4 3702 c.3485G>T c.(3484-3486)aGt>aTt p.S1162I ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S1162I|ZNF644_ENST00000467231.1_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 1162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CTTTTTCCCACTGGGCAGTTC 0.373000 12 149 0.000978159 0.000999423 1 1 0 DDC 1644 broad.mit.edu 37 7 50530960 50530960 + Missense_Mutation SNP G G A TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr7:50530960G>A ENST00000444124.2 - 14 1612 c.1412C>T c.(1411-1413)gCg>gTg p.A471V DDC_ENST00000426377.1_Missense_Mutation_p.A393V|DDC_ENST00000431062.1_Missense_Mutation_p.A378V|DDC_ENST00000357936.5_Missense_Mutation_p.A471V NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 471 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CACGTCGGCCGCCAGCTCTTT 0.597000 4 21 0 0 1 0 0 ADD3 120 broad.mit.edu 37 10 111860594 111860594 + Silent SNP C C T TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr10:111860594C>T ENST00000277900.8 + 2 548 c.183C>T c.(181-183)atC>atT p.I61I ADD3_ENST00000356080.4_Silent_p.I61I|ADD3_ENST00000360162.3_Silent_p.I61I|ADD3_ENST00000497125.1_3'UTR NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 61 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) TTACTCAGATCCTGCAAAGTC 0.398000 9 51 0 0 1 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 6 9 0 0 1 0 0 TECR 9524 broad.mit.edu 37 19 14674833 14674833 + Missense_Mutation SNP C C G TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr19:14674833C>G ENST00000436007.2 + 7 476 c.352C>G c.(352-354)Ctg>Gtg p.L118V TECR_ENST00000600083.1_5'UTR|TECR_ENST00000215567.5_Missense_Mutation_p.L103V|TECR_ENST00000596073.1_5'UTR Q9NZ01 TECR_HUMAN trans-2,3-enoyl-CoA reductase 103 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 TTTCATCTACCTGCTCTTCTA 0.557000 25 193 0 0 1 0 0 SMARCB1 6598 broad.mit.edu 37 22 24167513 24167513 + Silent SNP G G A rs2229354 byFrequency TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr22:24167513G>A ENST00000344921.6 + 7 1131 c.924G>A c.(922-924)tcG>tcA p.S308S SMARCB1_ENST00000407422.3_Silent_p.S290S|SMARCB1_ENST00000407082.3_Silent_p.S253S|SMARCB1_ENST00000263121.7_Silent_p.S299S Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 299 2 X approximate tandem repeats.|Interaction with PPP1R15A. cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(6)|p.S299S(4)|p.L266_*386del(1) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) AGCTGTGCTCGGAGCTGGGGT 0.547000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 4 68 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021754 5021754 + Missense_Mutation SNP G G A rs104894355 TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr12:5021754G>A ENST00000382545.3 + 2 2317 c.1210G>A c.(1210-1212)Gta>Ata p.V404I KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 404 V -> I (in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters). synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGCCCTGCCCGTACCTGTCAT 0.522000 144 246 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 4 46 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903279 4903279 + Silent SNP C C T TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr11:4903279C>T ENST00000380378.1 + 1 231 c.231C>T c.(229-231)gtC>gtT p.V77V MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.V50V|MMP26_ENST00000380390.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTTTCTTGTCATCATTACTA 0.483000 34 81 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332432 22332432 + RNA SNP C C T TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr15:22332432C>T ENST00000558896.1 + 0 239 AAGATTCTAACGTGACAGAAC 0.343000 5 110 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 3 31 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 28 53 0 0 1 0 0 GGN 199720 broad.mit.edu 37 19 38877231 38877231 + Missense_Mutation SNP G G A TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr19:38877231G>A ENST00000334928.6 - 3 803 c.671C>T c.(670-672)gCg>gTg p.A224V GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 224 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCCTTCGCCCGCATGGGGAGG 0.692000 3 32 0 0 1 0 0 COX10-AS1 0 broad.mit.edu 37 17 13927886 13927886 + RNA SNP G G A rs11649821 by1000genomes TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr17:13927886G>A ENST00000602743.1 - 0 224 AACGGAGGGAGTGAGAGCCTT 0.562000 3 14 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74803681 74803681 + Translation_Start_Site SNP G G A TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr2:74803681G>A ENST00000358434.2 - 0 950 M1AP_ENST00000290536.5_Silent_p.D278D|M1AP_ENST00000409585.1_Silent_p.D278D|M1AP_ENST00000536235.1_Silent_p.D278D|M1AP_ENST00000464686.1_5'UTR meiosis 1 associated protein TCAAGGAGCCGTCAGCTGTGC 0.483000 8 36 0 0 1 0 0 AC034193.5 0 broad.mit.edu 37 3 10035779 10035783 + RNA DEL AGTCT AGTCT - rs35714562 TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr3:10035779_10035783delAGTCT ENST00000326237.3 + 0 354 GGGGAAGAGAAGTCTGATCTGACAT 0.380 9 52 --- --- --- --- GPRIN1 114787 broad.mit.edu 37 5 176026120 176026143 + In_Frame_Del DEL CTCAAAGACCCAGGATCCTCCTTC CTCAAAGACCCAGGATCCTCCTTC - rs146584332 byFrequency TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr5:176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC ENST00000303991.4 - 2 870_893 c.693_716delGAAGGAGGATCCTGGGTCTTTGAG c.(691-717)aga>ag p.RKEDPGSLR231del NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 231 Missing (in Ref. 4; CAD38868). growth cone|plasma membrane p.L238L(1) NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATCCACCTTTCTCAAAGACCCAGGATCCTCCTTCCTCGGTGACA 0.491 36 104 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66767611 66767612 + RNA DEL TT TT - rs12531701 by1000genomes TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr7:66767611_66767612delTT ENST00000416602.2 + 0 4_5 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) ACCGGACTGCTTTTTTTTTTTT 0.545 4 6 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 7 42 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547135 132547136 + In_Frame_Ins INS - - CAG rs144787206 byFrequency TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr12:132547135_132547136insCAG ENST00000333577.4 + 48 8440_8441 c.8331_8332insCAG c.(8329-8334)caaaca>caCAGaaca p.2777_2777Q>HR EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2777 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacagcagca 0.589 11 55 --- --- --- --- FHOD1 29109 broad.mit.edu 37 16 67267852 67267852 + Frame_Shift_Del DEL G G - TCGA-DJ-A3V6-01A-11D-A22Z-08 TCGA-DJ-A3V6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82fd9da2-097f-4cb1-8f68-56fa6b6d20ce 1d024108-51ca-4b2f-bd0e-aeb64ce669ba g.chr16:67267852delG ENST00000258201.4 - 13 2001 c.1754delC c.(1753-1755)ctfs p.P587fs FHOD1_ENST00000567687.1_Frame_Shift_Del_p.P166fs NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 587 FH1.|Poly-Pro. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding p.P585fs*43(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AAGTGGGGGAGGGGGGGGTAC 0.622 10 15 --- --- --- ---