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 MLIP 90523 broad.mit.edu 37 6 53986246 53986246 + Splice_Site SNP T T C TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr6:53986246T>C ENST00000514921.1 + 2 178 c.63_splice c.e2-1 p.V22_splice MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000502396.1_Splice_Site_p.V33_splice|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000274897.5_Splice_Site_p.V22_splice|MLIP_ENST00000358276.5_Splice_Site_p.V16_splice Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 22 Interaction with LMNA. nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 GTCTCATAGGTCTCTGCTGGT 0.393000 20 41 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58511659 58511659 + Silent SNP G G A TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr5:58511659G>A ENST00000340635.6 - 2 766 c.591C>T c.(589-591)agC>agT p.S197S PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000507116.1_Silent_p.S133S|PDE4D_ENST00000503258.1_Silent_p.S67S|PDE4D_ENST00000405755.2_Silent_p.S75S|PDE4D_ENST00000360047.5_Silent_p.S61S|PDE4D_ENST00000502484.2_Silent_p.S136S|PDE4D_ENST00000502575.1_Silent_p.S133S|PDE4D_ENST00000546160.1_Silent_p.S136S NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 197 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GGTCATAATCGCTGTCGGATC 0.493000 4 52 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6696243 6696243 + Missense_Mutation SNP G G C TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr1:6696243G>C ENST00000377577.5 - 15 1711 c.1588C>G c.(1588-1590)Cag>Gag p.Q530E DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Missense_Mutation_p.Q492E|DNAJC11_ENST00000377573.5_Missense_Mutation_p.Q440E|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Q478E NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 530 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CCCCGGAACTGATAGAGCACT 0.542000 17 35 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 67 103 0 0 1 0 0 USP5 0 broad.mit.edu 37 12 6964920 6964920 + Splice_Site SNP A A G TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr12:6964920A>G ENST00000229268.8 + 3 291 c.237_splice c.e3-1 p.K80_splice USP5_ENST00000389231.5_Splice_Site_p.K80_splice NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 80 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 TCTTTACAGAAAGAGGAGGAC 0.577000 37 48 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43266347 43266347 + Missense_Mutation SNP C C T TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr6:43266347C>T ENST00000372585.5 + 1 346 c.251C>T c.(250-252)gCc>gTc p.A84V SLC22A7_ENST00000372574.3_Missense_Mutation_p.A84V|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A84V|SLC22A7_ENST00000487175.1_Intron NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 84 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CTCCGCTTTGCCTATCCCCAG 0.652000 3 43 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397369 125397369 + Missense_Mutation SNP T T C TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr12:125397369T>C ENST00000536769.1 - 1 2525 c.949A>G c.(949-951)Atc>Gtc p.I317V UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.I241V|UBC_ENST00000339647.5_Missense_Mutation_p.I317V P0CG48 UBC_HUMAN ubiquitin C 317 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCGAGAGTGATGGTCTTACCA 0.522000 40 116 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11827171 11827171 + Missense_Mutation SNP C C A TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr17:11827171C>A ENST00000262442.3 + 62 11858 c.11790C>A c.(11788-11790)caC>caA p.H3930Q DNAH9_ENST00000396001.2_Missense_Mutation_p.H242Q|DNAH9_ENST00000454412.2_Missense_Mutation_p.H3930Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3930 AAA 6 (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 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) AGAACTTTCACAACGTGTCTT 0.453000 6 61 0.0215528 0.0215528 1 1 0 TBC1D2B 23102 broad.mit.edu 37 15 78305349 78305349 + Silent SNP G G A TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr15:78305349G>A ENST00000409931.3 - 9 2157 c.2086C>T c.(2086-2088)Ctg>Ttg p.L696L TBC1D2B_ENST00000300584.3_Silent_p.L696L Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 696 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GCCTTCTGCAGCAAGGTCTGG 0.562000 3 20 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122853799 122853799 + Missense_Mutation SNP C C T TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr4:122853799C>T ENST00000264811.5 - 1 813 c.395G>A c.(394-396)cGt>cAt p.R132H TRPC3_ENST00000513531.1_Missense_Mutation_p.R132H|TRPC3_ENST00000379645.3_Missense_Mutation_p.R205H NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 120 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CAGAGTGAGACGCTTGCTGGC 0.647000 3 40 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 41 0 0 1 0 0 CHEK2P2 0 broad.mit.edu 37 15 20490512 20490512 + RNA SNP C C A TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr15:20490512C>A ENST00000555186.1 + 0 492 NR_038836.1 AGCTCTGGACCTTGTCAAGAA 0.438000 19 72 1.9806e-07 2.14565e-07 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803276 142803278 + RNA DEL AAC AAC - TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr1:142803276_142803278delAAC ENST00000423385.1 - 0 1687_1689 ACCAAACCAAaacaacaacaaca 0.345 3 5 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521545 32521546 + RNA INS - - AAGG rs144810212 by1000genomes TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr6:32521545_32521546insAAGG ENST00000411500.1 - 0 851 NR_001298.1 TTGGGGAAAGACTTTATCCAGG 0.436 3 5 --- --- --- --- ZNF703 80139 broad.mit.edu 37 8 37555481 37555481 + Frame_Shift_Del DEL G G - TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr8:37555481delG ENST00000331569.4 + 2 1291 c.1062delG c.(1060-1062)ccfs p.P354fs NM_025069.1 NP_079345.1 Q9H7S9 ZN703_HUMAN zinc finger protein 703 354 Gly-rich. adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding FGFR1/ZNF703(2) breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) GCCTGCCGCCGGGCAAGCCCC 0.711 2 4 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103271235 103271235 + Frame_Shift_Del DEL A A - TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr8:103271235delA ENST00000520539.1 - 57 8685 c.8079delT c.(8077-8079)ttfs p.F2693fs UBR5_ENST00000518205.1_Frame_Shift_Del_p.F421fs|UBR5_ENST00000220959.4_Frame_Shift_Del_p.F2692fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.F2686fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2693 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGAAAGAGGTAAAACTGATCA 0.333 10 26 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493648 77493650 + In_Frame_Del DEL GCG GCG - TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr14:77493648_77493650delGCG ENST00000238647.3 - 1 1384_1386 c.486_488delCGC c.(484-489)gct>gc p.AA162del NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 162 Poly-Ala. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 TTCCACCgcagcggcggcggcgg 0.749 5 8 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-EL-A4K2-01A-11D-A257-08 TCGA-EL-A4K2-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba57094e-ee91-4235-9cfb-88659af9a99e 406c2a3b-2a90-403c-b247-e484b0b313e3 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 7 99 --- --- --- ---