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 NES 10763 broad.mit.edu 37 1 156642067 156642067 + Missense_Mutation SNP G G T rs148672848 TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr1:156642067G>T ENST00000368223.3 - 4 2045 c.1913C>A c.(1912-1914)tCt>tAt p.S638Y NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 638 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACCTTCAAGAGATTTCATTAG 0.393 4 75 --- --- --- --- DNER 92737 broad.mit.edu 37 2 230272041 230272041 + Missense_Mutation SNP T T G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr2:230272041T>G ENST00000341772.4 - 10 1764 c.1630A>C c.(1630-1632)Aag>Cag p.K544Q NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 544 EGF-like 9. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CAGGGATCCTTGTACAATTCA 0.542 4 69 --- --- --- --- CCNL1 57018 broad.mit.edu 37 3 156866322 156866322 + Missense_Mutation SNP G G A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr3:156866322G>A ENST00000295926.3 - 11 1407 c.1289C>T c.(1288-1290)tCc>tTc p.S430F CCNL1_ENST00000461804.1_Intron NM_020307.2 NP_064703.1 Q9UK58 CCNL1_HUMAN cyclin L1 430 RS. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) GTGACTGCGGGACCTGCTTCT 0.408 4 111 --- --- --- --- MASP1 5648 broad.mit.edu 37 3 186954037 186954037 + Missense_Mutation SNP A A G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr3:186954037A>G ENST00000296280.6 - 11 1847 c.1622T>C c.(1621-1623)cTc>cCc p.L541P MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 540 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GTCTGGGTGGAGCACCACTCG 0.572 3 41 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13700934 13700934 + Missense_Mutation SNP A A C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr5:13700934A>C ENST00000265104.4 - 78 13642 c.13538T>G c.(13537-13539)cTt>cGt p.L4513R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4513 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTCATTGCAAAGCACCATATT 0.473 Kartagener syndrome 20 136 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86333756 86333756 + Silent SNP C C A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr6:86333756C>A ENST00000355238.6 - 7 947 c.741G>T c.(739-741)gtG>gtT p.V247V SYNCRIP_ENST00000369622.3_Silent_p.V247V NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 247 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GAATAGAGCCCACAAAAAGCC 0.358 5 70 --- --- --- --- NPC1L1 29881 broad.mit.edu 37 7 44553094 44553094 + Silent SNP A A C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr7:44553094A>C ENST00000289547.4 - 20 4087 c.4032T>G c.(4030-4032)ggT>ggG p.G1344G NPC1L1_ENST00000546276.1_Silent_p.G1271G|NPC1L1_ENST00000381160.3_Silent_p.G1317G NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1344 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TGGCACCAGCACCTTTGATAG 0.537 16 70 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82430883 82430883 + Silent SNP T T C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr7:82430883T>C ENST00000333891.9 - 22 15295 c.14958A>G c.(14956-14958)caA>caG p.Q4986Q NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTACAGGCTCTTGTCCATTCT 0.353 4 70 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55533943 55533943 + Silent SNP C C G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr8:55533943C>G ENST00000220676.1 + 2 565 c.417C>G c.(415-417)ccC>ccG p.P139P NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 139 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACTCACCGCCCCACCCCGTAG 0.697 5 58 --- --- --- --- DNAJB5 25822 broad.mit.edu 37 9 34993218 34993218 + Silent SNP T T C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr9:34993218T>C ENST00000454002.2 + 2 585 c.204T>C c.(202-204)ggT>ggC p.G68G DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000312316.5_5'UTR|DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000453597.3_Silent_p.G110G|DNAJB5_ENST00000541010.1_5'UTR NM_001135005.2 NP_001128477.1 O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 0 J. protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) CCAGTGCTGGTCCAGTGGCTG 0.502 6 31 --- --- --- --- VAV2 7410 broad.mit.edu 37 9 136642579 136642579 + Missense_Mutation SNP G G C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr9:136642579G>C ENST00000371851.1 - 21 2192 c.1867C>G c.(1867-1869)Ctg>Gtg p.L623V VAV2_ENST00000406606.3_Missense_Mutation_p.L623V|VAV2_ENST00000371850.3_Missense_Mutation_p.L633V P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 633 SH3 1. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GTTTGTACCAGACGACCCTGG 0.572 15 88 --- --- --- --- OR6C76 390326 broad.mit.edu 37 12 55820588 55820588 + Missense_Mutation SNP T T C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr12:55820588T>C ENST00000328314.3 + 1 551 c.551T>C c.(550-552)aTc>aCc p.I184T NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TTGCTGCAAATCTCTTGCACA 0.403 6 70 --- --- --- --- RSL1D1 26156 broad.mit.edu 37 16 11941663 11941663 + Splice_Site SNP C C A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr16:11941663C>A ENST00000571133.1 - 3 318 c.246G>T c.(244-246)ttG>ttT p.L82F RSL1D1_ENST00000542106.1_5'UTR NM_015659.2 NP_056474.2 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 82 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 GAGGCAAGGTCCTACAAAATA 0.333 6 57 --- --- --- --- EFCAB13 124989 broad.mit.edu 37 17 45455257 45455257 + Missense_Mutation SNP A A G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr17:45455257A>G ENST00000331493.2 + 13 1909 c.1498A>G c.(1498-1500)Act>Gct p.T500A EFCAB13_ENST00000517484.1_Missense_Mutation_p.T404A NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 TGTGACAGACACTAGTAGAAA 0.323 3 55 --- --- --- --- STX16 8675 broad.mit.edu 37 20 57251292 57251292 + Nonsense_Mutation SNP T T A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr20:57251292T>A ENST00000371141.4 + 9 1647 c.923T>A c.(922-924)tTa>tAa p.L308* STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*|STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291* NM_001001433.2 NP_001001433.1 O14662 STX16_HUMAN syntaxin 16 308 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1) 17 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) ATTTTAATATTATTTGTCATC 0.443 4 181 --- --- --- --- ZNF347 84671 broad.mit.edu 37 19 53645401 53645401 + Frame_Shift_Del DEL G G - TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr19:53645401delG ENST00000452676.2 - 5 1109 c.683delC c.(682-684)cctfs p.P228fs ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.P227fs|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.P228fs NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GACATTATAAGGCATTTGTTG 0.343 12 181 --- --- --- ---