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 ABL2 27 broad.mit.edu 37 1 179090742 179090742 + Silent SNP C C T TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr1:179090742C>T ENST00000502732.1 - 5 1151 c.948G>A c.(946-948)gtG>gtA p.V316V ABL2_ENST00000344730.3_Silent_p.V301V|ABL2_ENST00000507173.1_Silent_p.V295V|ABL2_ENST00000408940.3_Silent_p.V280V|ABL2_ENST00000511413.1_Silent_p.V316V|ABL2_ENST00000367623.4_Silent_p.V295V|ABL2_ENST00000504405.1_Silent_p.V280V|ABL2_ENST00000512653.1_Silent_p.V301V|ABL2_ENST00000392043.3_Silent_p.V295V NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 316 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TCAATGTTTTCACAGCAACTG 0.428000 T ETV6 AML 9 232 0 0 0.006214 0 0 DNM1P47 0 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 7 2 0 0 0.004482 0 0 FLII 2314 broad.mit.edu 37 17 18149316 18149316 + Missense_Mutation SNP C C T TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr17:18149316C>T ENST00000327031.4 - 26 3553 c.3328G>A c.(3328-3330)Gac>Aac p.D1110N FLII_ENST00000579294.1_Missense_Mutation_p.D1099N|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.D1024N|FLII_ENST00000545457.2_Missense_Mutation_p.D1055N NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 1110 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) TCGTCAGGGTCTGATGCCCGG 0.617000 21 43 0 0 0.002780 0 0 GABRD 2563 broad.mit.edu 37 1 1961681 1961681 + Missense_Mutation SNP C C T TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr1:1961681C>T ENST00000378585.4 + 9 1402 c.1319C>T c.(1318-1320)gCg>gTg p.A440V NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 440 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.A440V(1) central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GCGGCGTTTGCGGCCGTCAAT 0.662000 4 103 0 0 0.000602 0 0 ADAM29 11086 broad.mit.edu 37 4 175897117 175897117 + Silent SNP T T C TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr4:175897117T>C ENST00000359240.3 + 5 1111 c.441T>C c.(439-441)caT>caC p.H147H ADAM29_ENST00000514159.1_Silent_p.H147H|ADAM29_ENST00000445694.1_Silent_p.H147H|ADAM29_ENST00000404450.4_Silent_p.H147H NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 147 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CGTTTGAACATCTGGTATACA 0.368000 46 78 0 0 0.002852 0 0 USP9Y 8287 broad.mit.edu 37 Y 14924964 14924964 + Missense_Mutation SNP A A C TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chrY:14924964A>C ENST00000338981.3 + 31 5531 c.4586A>C c.(4585-4587)tAt>tCt p.Y1529S USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 1529 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 ACTGAAATGTATTACATGGGC 0.333000 29 8 0 0 0.008361 0 0 PRDM2 7799 broad.mit.edu 37 1 14075951 14075951 + Silent SNP G G C TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr1:14075951G>C ENST00000235372.7 + 6 1336 c.480G>C c.(478-480)cgG>cgC p.R160R PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Silent_p.R160R|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Silent_p.R160R|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000505823.1_5'UTR NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 160 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CCAGCGCCCGGAGCAAGCGGA 0.726000 13 6 0 0 0.001368 0 0 CLIP2 7461 broad.mit.edu 37 7 73731926 73731926 + Missense_Mutation SNP C C G TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr7:73731926C>G ENST00000223398.6 + 2 377 c.50C>G c.(49-51)tCc>tGc p.S17C CLIP2_ENST00000395060.1_Missense_Mutation_p.S17C|CLIP2_ENST00000361545.5_Missense_Mutation_p.S17C NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 17 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GGGAAGCACTCCAGCCCCATG 0.672000 65 80 0 0 0.003610 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8218800 8218800 + Silent SNP C C T TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr17:8218800C>T ENST00000361926.3 + 7 1439 c.1329C>T c.(1327-1329)ttC>ttT p.F443F ARHGEF15_ENST00000421050.1_Silent_p.F443F NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 443 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCGACACCTTCGTGCTGAGCC 0.617000 50 127 0 0 0.003610 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 3 35 0 0 0.004672 0 0 DHX8 1659 broad.mit.edu 37 17 41585706 41585706 + Splice_Site SNP G G A TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr17:41585706G>A ENST00000262415.3 + 16 2392 c.e16-1 DHX8_ENST00000540306.1_Splice_Site NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) TCTGCTCGTAGGTGATATCCT 0.388000 43 84 0 0 0.002852 0 0 DNAH9 1770 broad.mit.edu 37 17 11757354 11757354 + Missense_Mutation SNP C C T TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr17:11757354C>T ENST00000262442.3 + 50 9610 c.9542C>T c.(9541-9543)cCg>cTg p.P3181L DNAH9_ENST00000454412.2_Missense_Mutation_p.P3181L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3181 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P3181Q(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTTGGCTCTCCGCCTCTGGCC 0.572000 36 47 0 0 0.006230 0 0 SRC 6714 broad.mit.edu 37 20 36031692 36031692 + Missense_Mutation SNP G G C TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr20:36031692G>C ENST00000373578.2 + 14 1870 c.1521G>C c.(1519-1521)gaG>gaC p.E507D SRC_ENST00000373567.2_Missense_Mutation_p.E507D|SRC_ENST00000360723.4_Missense_Mutation_p.E513D|SRC_ENST00000445403.1_Missense_Mutation_p.E507D|SRC_ENST00000358208.4_Missense_Mutation_p.E507D|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373558.2_Missense_Mutation_p.E513D NM_198291.1 NP_938033.1 P12931 SRC_HUMAN v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog 507 Protein kinase. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) AGGAGCCTGAGGAGCGGCCCA 0.677000 3 15 0 0 0.004672 0 0 CIRH1A 84916 broad.mit.edu 37 16 69200994 69200994 + Missense_Mutation SNP A A G TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr16:69200994A>G ENST00000314423.7 + 16 2027 c.1850A>G c.(1849-1851)aAa>aGa p.K617R CIRH1A_ENST00000352319.4_Missense_Mutation_p.K502R|CIRH1A_ENST00000563094.1_3'UTR Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 617 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) CCAAATGACAAAACCTTACTC 0.378000 59 70 0 0 0.003610 0 0 TMEM176B 28959 broad.mit.edu 37 7 150490266 150490266 + Silent SNP G G C TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr7:150490266G>C ENST00000447204.2 - 5 882 c.510C>G c.(508-510)gtC>gtG p.V170V TMEM176B_ENST00000434545.1_Silent_p.V170V|TMEM176B_ENST00000429904.2_Silent_p.V170V|TMEM176B_ENST00000326442.5_Silent_p.V170V|TMEM176B_ENST00000492607.1_Silent_p.V170V|TMEM176B_ENST00000450753.2_Silent_p.V133V NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 170 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGTAGGGAAGACAGGGTCTG 0.507000 53 69 0 0 0.003610 0 0 CYTH1 9267 broad.mit.edu 37 17 76695039 76695039 + Missense_Mutation SNP C C T TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr17:76695039C>T ENST00000589297.1 - 8 1077 c.385G>A c.(385-387)Gtc>Atc p.V129I CYTH1_ENST00000446868.3_Missense_Mutation_p.V188I|CYTH1_ENST00000591455.1_Missense_Mutation_p.V188I|CYTH1_ENST00000361101.4_Missense_Mutation_p.V188I|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Missense_Mutation_p.V129I Q15438 CYH1_HUMAN cytohesin 1 188 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 AAGGAGAGGACGTAACAAGTA 0.478000 7 232 0 0 0.008291 0 0 MTTP 4547 broad.mit.edu 37 4 100534244 100534244 + Missense_Mutation SNP G G A TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr4:100534244G>A ENST00000457717.1 + 16 2420 c.2164G>A c.(2164-2166)Ggc>Agc p.G722S RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.G722S|MTTP_ENST00000511045.1_Missense_Mutation_p.G749S NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 722 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GTCAGCATCTGGCGACCCTAT 0.423000 3 75 0 0 0.004672 0 0 KIAA0556 23247 broad.mit.edu 37 16 27763240 27763240 + Missense_Mutation SNP G G C TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr16:27763240G>C ENST00000261588.4 + 17 3566 c.3547G>C c.(3547-3549)Gaa>Caa p.E1183Q NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1183 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GGGGGCTGATGAACGGGTAGG 0.612000 22 20 0 0 0.001523 0 0 NUDT15 55270 broad.mit.edu 37 13 48611888 48611888 + Silent SNP G G A TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr13:48611888G>A ENST00000258662.2 + 1 186 c.6G>A c.(4-6)acG>acA p.T2T SUCLA2_ENST00000543413.1_5'UTR NM_018283.1 NP_060753.1 Q9NV35 NUD15_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 15 2 hydrolase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 7 all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;4.83e-07) GCGCTATGACGGCCAGCGCAC 0.721000 OREG0022405 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 0 0 0 0.004672 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293460 145293460 + Missense_Mutation SNP G G C TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr1:145293460G>C ENST00000342960.5 + 1 90 c.55G>C c.(55-57)Gaa>Caa p.E19Q RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.E19Q NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 19 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) GAACATTCTAGAAATCAACGA 0.522000 122 828 0 0 0.003610 0 0 GNPAT 8443 broad.mit.edu 37 1 231401089 231401089 + Missense_Mutation SNP T T C TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr1:231401089T>C ENST00000366647.4 + 5 788 c.619T>C c.(619-621)Ttt>Ctt p.F207L GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 207 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) GTCGGGTGCCTTTTTCATGCG 0.383000 3 92 0 0 0.004672 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952074 178952074 + Missense_Mutation SNP G G C rs121913283 TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr3:178952074G>C ENST00000263967.3 + 21 3286 c.3129G>C c.(3127-3129)atG>atC p.M1043I NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043I(66) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAACAAATGAATGATGCAC 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 40 55 0 0 0.007835 0 0 CAMK2A 815 broad.mit.edu 37 5 149602592 149602592 + Missense_Mutation SNP C C T TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr5:149602592C>T ENST00000348628.6 - 17 2058 c.1393G>A c.(1393-1395)Gtc>Atc p.V465I CAMK2A_ENST00000398376.3_Missense_Mutation_p.V476I|CAMK2A_ENST00000351010.6_5'UTR NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 465 interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGAAGTGGACGATCTGCCAT 0.632000 57 67 0 0 0.003610 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 118 0 0 0.004672 0 0 LETM2 137994 broad.mit.edu 37 8 38264955 38264955 + Nonsense_Mutation SNP G G T TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr8:38264955G>T ENST00000379957.4 + 10 1514 c.1387G>T c.(1387-1389)Gga>Tga p.G463* LETM2_ENST00000297720.5_Nonsense_Mutation_p.G368*|LETM2_ENST00000523983.2_Nonsense_Mutation_p.G416*|LETM2_ENST00000527710.1_Nonsense_Mutation_p.G249*|LETM2_ENST00000524874.1_Nonsense_Mutation_p.G415* NM_001199659.1 NP_001186588.1 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 463 integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) ATTACCTAAAGGACCCATCAC 0.388000 68 113 6.88731e-43 9.64224e-43 0.003610 1 0 ZNF48 197407 broad.mit.edu 37 16 30409512 30409512 + Missense_Mutation SNP G G A rs145091254 TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr16:30409512G>A ENST00000320159.2 + 2 1317 c.941G>A c.(940-942)cGg>cAg p.R314Q NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 GAGTTTGCCCGGGGATCCGAC 0.622000 43 42 0 0 0.002522 0 0 MTMR12 54545 broad.mit.edu 37 5 32230250 32230250 + Missense_Mutation SNP C C A TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr5:32230250C>A ENST00000382142.3 - 16 2048 c.1878G>T c.(1876-1878)ttG>ttT p.L626F MTMR12_ENST00000264934.5_Missense_Mutation_p.L516F|MTMR12_ENST00000280285.5_Missense_Mutation_p.L572F|MTMR12_ENST00000510216.1_5'UTR NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 626 Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GCGGTAACAACAAACCATGGT 0.483000 72 96 9.07738e-34 1.23553e-33 0.003610 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f 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 46 63 0 0 0.003610 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891083 4891083 + Missense_Mutation SNP G G A TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr19:4891083G>A ENST00000381781.2 - 3 1003 c.1004C>T c.(1003-1005)cCc>cTc p.P335L NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 335 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) TGGGTTCACGGGTAACACTCC 0.512000 38 56 0 0 0.005524 0 0 AOC1 26 broad.mit.edu 37 7 150558122 150558122 + Missense_Mutation SNP T T A TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr7:150558122T>A ENST00000493429.1 + 7 2665 c.2081T>A c.(2080-2082)tTc>tAc p.F694Y AOC1_ENST00000416793.2_Missense_Mutation_p.F713Y|AOC1_ENST00000360937.4_Missense_Mutation_p.F694Y|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.F694Y amine oxidase, copper containing 1 TCCGTGGGCTTCCTGCTCCGG 0.627000 41 50 0 0 0.006999 0 0 INTS1 26173 broad.mit.edu 37 7 1542823 1542823 + Silent SNP G G A TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr7:1542823G>A ENST00000389470.4 - 4 446 c.447C>T c.(445-447)caC>caT p.H149H INTS1_ENST00000404767.3_Silent_p.H21H Q8N201 INT1_HUMAN integrator complex subunit 1 21 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) CTGGGGGAGGGTGCCCTGCAG 0.542000 30 50 0 0 0.003755 0 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 4 --- --- --- --- LATS1 9113 broad.mit.edu 37 6 150023002 150023002 + Frame_Shift_Del DEL T T - TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr6:150023002delT ENST00000543571.1 - 2 808 c.261delA c.(259-261)ccfs p.P87fs LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P87fs|LATS1_ENST00000392273.3_Frame_Shift_Del_p.P87fs NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 87 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) CATTTGCAAATGGAAGCAGAG 0.398 47 159 --- --- --- --- RP11-1028N23.4 0 broad.mit.edu 37 12 116030326 116030327 + RNA INS - - T rs113877692 TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr12:116030326_116030327insT ENST00000551940.1 - 0 343 cctccattttcTTTTTTTTTTT 0.475 2 4 --- --- --- --- CTD-2008A1.2 0 broad.mit.edu 37 15 45154054 45154054 + RNA DEL T T - TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr15:45154054delT ENST00000561384.2 - 0 182 GCCATGGAGCTTTTTTGCCTC 0.617 2 4 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25656557 25656557 + Frame_Shift_Del DEL T T - TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chr20:25656557delT ENST00000376436.1 - 4 1906 c.1367delA c.(1366-1368)ggfs p.E457fs RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.E425fs|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E457fs zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGGCTTCTCCTCTGAGTGTGT 0.453 99 132 --- --- --- --- SAT1 6303 broad.mit.edu 37 X 23802147 23802147 + Frame_Shift_Del DEL A A - TCGA-BJ-A3EZ-01A-11D-A202-08 TCGA-BJ-A3EZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec345a2-a9b0-4c70-a967-9616460830b6 447950c6-32d0-4916-a3ca-d3d0ed83a32f g.chrX:23802147delA ENST00000379253.3 + 3 528 c.349delA c.(349-351)aafs p.K119fs SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379251.3_Frame_Shift_Del_p.K149fs|SAT1_ENST00000489394.1_Intron|SAT1_ENST00000379270.4_Intron P21673 SAT1_HUMAN spermidine/spermine N1-acetyltransferase 1 0 N-acetyltransferase. angiogenesis|polyamine biosynthetic process cytosol diamine N-acetyltransferase activity|protein binding p.N150fs*13(3) breast(1)|endometrium(3)|kidney(3)|lung(3) 10 Spermine(DB00127) ACTACTGAGGAAAAAAAAAAA 0.398 3 5 --- --- --- ---