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 TNIK 23043 broad.mit.edu 37 3 170784406 170784406 + Missense_Mutation SNP T T C TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr3:170784406T>C ENST00000436636.2 - 31 4162 c.3818A>G c.(3817-3819)aAg>aGg p.K1273R TNIK_ENST00000475336.1_Missense_Mutation_p.K1181R|TNIK_ENST00000369326.5_Missense_Mutation_p.K1251R|TNIK_ENST00000357327.5_Missense_Mutation_p.K1244R|TNIK_ENST00000341852.6_Missense_Mutation_p.K1189R|TNIK_ENST00000460047.1_Missense_Mutation_p.K1210R|TNIK_ENST00000488470.1_Missense_Mutation_p.K1218R|TNIK_ENST00000470834.1_Missense_Mutation_p.K1236R|TNIK_ENST00000284483.8_Missense_Mutation_p.K1265R|TNIK_ENST00000538048.1_Missense_Mutation_p.K1225R NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 1273 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CACCACATCCTTAGTTATCCG 0.458000 3 134 0 0 0.115264 0 0 CNEP1R1 255919 broad.mit.edu 37 16 50059581 50059581 + Silent SNP G G A TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr16:50059581G>A ENST00000458059.3 + 2 951 c.45G>A c.(43-45)ctG>ctA p.L15L CNEP1R1_ENST00000565556.1_5'UTR|CNEP1R1_ENST00000427478.2_Intron|CNEP1R1_ENST00000567712.1_3'UTR|CNEP1R1_ENST00000562576.1_Intron NM_153261.4 NP_694993.2 Q8N9A8 TM188_HUMAN CTD nuclear envelope phosphatase 1 regulatory subunit 1 8 R -> G (in Ref. 2; CAI45924). integral to membrane TTGTATCCCTGATTCCTGCGG 0.463000 12 55 0 0 0.479597 0 0 NSD1 64324 broad.mit.edu 37 5 176687001 176687001 + Missense_Mutation SNP C C T TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr5:176687001C>T ENST00000439151.2 + 14 5023 c.4978C>T c.(4978-4980)Cgc>Tgc p.R1660C NSD1_ENST00000361032.4_Missense_Mutation_p.R1557C|NSD1_ENST00000354179.4_Missense_Mutation_p.R1391C|NSD1_ENST00000347982.4_Missense_Mutation_p.R1391C NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1660 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.R1660C(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCGGTTGATGCGCTGTGTCCG 0.403000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 5 194 0 0 0.217242 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 11 0.184627 0.213032 0.184627 1 0 CASC5 57082 broad.mit.edu 37 15 40913253 40913253 + Missense_Mutation SNP A A G TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr15:40913253A>G ENST00000346991.5 + 11 1259 c.869A>G c.(868-870)gAt>gGt p.D290G CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D264G Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 290 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CTTAAGGAAGATGAAAATAAC 0.363000 6 93 0 0 0.217242 0 0 OR4A15 81328 broad.mit.edu 37 11 55135389 55135389 + Silent SNP T T C TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr11:55135389T>C ENST00000314706.3 + 1 30 c.30T>C c.(28-30)ttT>ttC p.F10F NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATCTCAAATTTATCACTGACC 0.413000 4 78 0 0 0.150653 0 0 ZNF208 7757 broad.mit.edu 37 19 22155223 22155223 + Silent SNP T T C TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr19:22155223T>C ENST00000397126.4 - 4 2761 c.2613A>G c.(2611-2613)aaA>aaG p.K871K ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.K771K(2)|p.K871K(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGAGGGCCATTTATAGGCTT 0.373000 3 127 0 0 0.115264 0 0 LILRA3 0 broad.mit.edu 37 19 54802498 54802498 + Missense_Mutation SNP C C T TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr19:54802498C>T ENST00000391745.1 - 9 1310 c.994G>A c.(994-996)Gac>Aac p.D332N LILRA3_ENST00000391744.3_Missense_Mutation_p.D251N|LILRA3_ENST00000251390.3_Missense_Mutation_p.D315N leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ATCAGGATGTCCAGGGGGTCG 0.672000 4 119 0 0 0.150653 0 0 AC073321.4 0 broad.mit.edu 37 2 217474994 217474994 + RNA DEL T T - rs71401155 TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr2:217474994delT ENST00000441803.1 + 0 195 tctttctttcttttttttttt 0.393 3 3 --- --- --- --- CTD-2194L12.2 0 broad.mit.edu 37 5 37909585 37909586 + RNA DEL AA AA - rs2973078 by1000genomes TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr5:37909585_37909586delAA ENST00000513673.1 - 0 234 acacacacacaATACACTGTTT 0.411 2 4 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142477454 142477463 + RNA DEL CCTGGCCCTT CCTGGCCCTT - TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr8:142477454_142477463delCCTGGCCCTT ENST00000430863.1 - 0 2403 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CCCTCCGCCCcctggcccttcctggccctt 0.671 2 4 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763869 72763869 + RNA DEL A A - TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr16:72763869delA ENST00000563328.2 + 0 164 GGTCCAAAACAAAAAAAAAAA 0.433 6 8 --- --- --- ---