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 SLC26A8 116369 broad.mit.edu 37 6 35980123 35980123 + Missense_Mutation SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr6:35980123C>T ENST00000490799.1 - 3 568 c.215G>A c.(214-216)tGc>tAc p.C72Y SLC26A8_ENST00000355574.2_Missense_Mutation_p.C72Y|SLC26A8_ENST00000394602.2_Missense_Mutation_p.C72Y NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 72 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TGTAAGCACGCATCGTAGGAA 0.458000 37 59 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 32 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386955 8386955 + RNA SNP T T C rs75997195 TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr12:8386955T>C ENST00000427893.2 - 0 811 CTTGTGCTCCTGGCAGGCAGC 0.612000 6 114 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95403999 95403999 + Silent SNP G G A TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr8:95403999G>A ENST00000336148.5 - 10 1771 c.1647C>T c.(1645-1647)tgC>tgT p.C549C NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding p.C549C(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) CTCCTGGTCGGCAAAAGACAA 0.398000 Direct reversal of damage;Homologous recombination 4 201 0 0 1 0 0 LMO1 4004 broad.mit.edu 37 11 8252034 8252034 + Missense_Mutation SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr11:8252034C>T ENST00000335790.3 - 2 538 c.43G>A c.(43-45)Gtc>Atc p.V15I LMO1_ENST00000534484.1_Missense_Mutation_p.V4I|LMO1_ENST00000428101.2_Missense_Mutation_p.V14I NM_002315.2 NP_002306.1 P25800 RBTN1_HUMAN LIM domain only 1 (rhombotin 1) 15 cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1) 5 Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203) TTGGGCTGGACGGAGAGCATC 0.592000 """T, A""" TRD@ """T-ALL, neuroblastoma""" neuroblastoma 16 86 0 0 1 0 0 SATL1 340562 broad.mit.edu 37 X 84362997 84362997 + Silent SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chrX:84362997C>T ENST00000509231.1 - 1 1057 c.978G>A c.(976-978)agG>agA p.R326R SATL1_ENST00000395409.3_Silent_p.R139R|SATL1_ENST00000332921.5_Silent_p.R139R Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 139 Gln-rich. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 CTGGTTGGCTCCTACCTAATT 0.527000 28 7 0 0 1 0 0 PUS7 54517 broad.mit.edu 37 7 105148879 105148879 + Silent SNP A A G TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr7:105148879A>G ENST00000356362.2 - 2 295 c.81T>C c.(79-81)gtT>gtC p.V27V PUS7_ENST00000469408.1_Silent_p.V27V NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 27 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 TTGTCTCTTCAACTGGGACTC 0.473000 50 51 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40670456 40670456 + Missense_Mutation SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr21:40670456C>T ENST00000342449.3 - 5 329 c.251G>A c.(250-252)cGc>cAc p.R84H BRWD1_ENST00000341322.4_Missense_Mutation_p.R84H|BRWD1_ENST00000380800.3_Missense_Mutation_p.R84H|BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000333229.2_Missense_Mutation_p.R84H NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AGGACCGATGCGCTGGCAGAT 0.408000 4 142 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83029362 83029362 + Missense_Mutation SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr7:83029362C>T ENST00000307792.3 - 11 1815 c.1348G>A c.(1348-1350)Gtc>Atc p.V450I SEMA3E_ENST00000427262.1_Missense_Mutation_p.V390I NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 450 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) ATAAACAAGACGTCATATTGG 0.333000 5 146 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23326258 23326258 + Silent SNP G G A TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr10:23326258G>A ENST00000298032.5 + 19 2553 c.2469G>A c.(2467-2469)gcG>gcA p.A823A ARMC3_ENST00000376528.4_Silent_p.A560A|ARMC3_ENST00000409983.3_Silent_p.A816A NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 823 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACGGTAGAGCGTGGAATGAAG 0.542000 4 65 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47647929 47647929 + Silent SNP T T C TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr6:47647929T>C ENST00000398742.2 + 4 439 c.390T>C c.(388-390)atT>atC p.I130I GPR111_ENST00000296862.1_Silent_p.I198I|GPR111_ENST00000507065.1_Silent_p.I130I Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 198 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CTTGTGTAATTAGAAACATTC 0.383000 37 51 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15298084 15298084 + Missense_Mutation SNP G G A rs75068032 TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr19:15298084G>A ENST00000263388.2 - 11 1747 c.1672C>T c.(1672-1674)Cgc>Tgc p.R558C NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 558 EGF-like 14; calcium-binding (Potential). R -> C (in CADASIL). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TCCACGCAGCGACCATGGTGG 0.652000 3 39 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45861581 45861581 + Missense_Mutation SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr21:45861581C>T ENST00000397928.1 + 32 4838 c.4393C>T c.(4393-4395)Cac>Tac p.H1465Y TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1465Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1411Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1515Y NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1465 Nudix hydrolase. integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCAGAACCTGCACGCCTGCGA 0.662000 3 21 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054339 67054339 + Silent SNP A A G TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr3:67054339A>G ENST00000295568.4 + 3 1001 c.870A>G c.(868-870)aaA>aaG p.K290K KBTBD8_ENST00000417314.2_Silent_p.K316K|KBTBD8_ENST00000460576.1_Intron NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 316 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GGGTGTTTAAACTATGCAAAC 0.433000 4 165 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100934452 100934452 + Missense_Mutation SNP G G A TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr14:100934452G>A ENST00000335290.6 + 3 1143 c.917G>A c.(916-918)cGc>cAc p.R306H WDR25_ENST00000542471.2_Missense_Mutation_p.R49H|WDR25_ENST00000402312.3_Missense_Mutation_p.R306H|WDR25_ENST00000554998.1_Missense_Mutation_p.R306H NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 306 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) TGTGGCCGGCGCATCCTCAGT 0.637000 4 175 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791758 42791758 + Missense_Mutation SNP G G A TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr19:42791758G>A ENST00000572681.2 + 6 3439 c.3371G>A c.(3370-3372)cGg>cAg p.R1124Q CIC_ENST00000160740.3_Missense_Mutation_p.R215Q|CIC_ENST00000575354.2_Missense_Mutation_p.R215Q Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215Q(2) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) AAGCGGCACCGGGCCCTGGTC 0.612000 """Mis, F, S""" oligodendroglioma 34 12 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386973 8386973 + RNA SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr12:8386973C>T ENST00000427893.2 - 0 793 AGCCAGCCTCCGCAGGACCCC 0.592000 4 87 0 0 1 0 0 ASIP 434 broad.mit.edu 37 20 32856864 32856864 + Missense_Mutation SNP G G T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr20:32856864G>T ENST00000568305.1 + 4 492 c.290G>T c.(289-291)cGc>cTc p.R97L RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Missense_Mutation_p.R97L P42127 ASIP_HUMAN agouti signaling protein 97 Agouti. cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway extracellular space central_nervous_system(1)|lung(2) 3 GTGGCCACCCGCAACAGCTGC 0.701000 3 7 0.004672 0.004672 1 1 0 NSFL1C 55968 broad.mit.edu 37 20 1433682 1433682 + Missense_Mutation SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr20:1433682C>T ENST00000216879.4 - 6 1508 c.641G>A c.(640-642)cGc>cAc p.R214H NSFL1C_ENST00000353088.2_Missense_Mutation_p.R183H|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R216H|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R103H|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R216H|NSFL1C_ENST00000461211.1_5'UTR NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 214 SEP. chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 TCACCCTCTGCGGATAGACTC 0.458000 5 171 0 0 1 0 0 HSD17B8 7923 broad.mit.edu 37 6 33172796 33172796 + Missense_Mutation SNP G G A TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr6:33172796G>A ENST00000374662.3 + 2 197 c.170G>A c.(169-171)gGg>gAg p.G57E HSD17B8_ENST00000469186.1_3'UTR NM_014234.4 NP_055049.1 Q92506 DHB8_HUMAN hydroxysteroid (17-beta) dehydrogenase 8 57 estrogen biosynthetic process|fatty acid biosynthetic process mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 9 NADH(DB00157) CTGCTGGGCGGGCCAGGGAGC 0.721000 3 7 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135073582 135073582 + Silent SNP T T C TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr7:135073582T>C ENST00000428680.2 - 11 1962 c.1683A>G c.(1681-1683)ggA>ggG p.G561G CNOT4_ENST00000315544.5_Silent_p.G564G|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Intron NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 564 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 TAGGCTGCTGTCCTTGTTGTA 0.488000 21 20 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 15 30 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12131003 12131003 + Nonsense_Mutation SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr10:12131003C>T ENST00000263035.4 + 5 798 c.736C>T c.(736-738)Cga>Tga p.R246* DHTKD1_ENST00000465617.1_Intron NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 246 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CCGTAAAATGCGAGGCTTAAG 0.458000 4 94 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388930 1388931 + Frame_Shift_Ins INS - - CA rs71299249 TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr4:1388930_1388931insCA ENST00000324803.4 + 1 3591_3592 c.631_632insCA c.(631-633)acafs p.T211fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 211 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCTGCCTGCTCACACGTGCCC 0.663 7 196 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589623 67589634 + In_Frame_Del DEL ATATGATAGATT ATATGATAGATT - TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr5:67589623_67589634delATATGATAGATT ENST00000521381.1 + 11 2002_2013 c.1386_1397delATATGATAGATT c.(1384-1398)gaa>ga p.EYDRL462del PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYDRL162del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYDRL99del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYDRL192del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYDRL462del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 462 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AAAGTCGAGAATATGATAGATTATATGAAGAA 0.283 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 14 28 --- --- --- --- KCNMA1 3778 broad.mit.edu 37 10 79397261 79397263 + In_Frame_Del DEL GAA GAA - TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr10:79397261_79397263delGAA ENST00000286627.5 - 1 1090_1092 c.138_140delTTC c.(136-141)tcc>tc p.SS58del KCNMA1_ENST00000481070.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000480683.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000406533.3_In_Frame_Del_p.SS58del|KCNMA1_ENST00000286628.8_In_Frame_Del_p.SS58del|KCNMA1_ENST00000372443.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000354353.5_In_Frame_Del_p.SS58del|KCNMA1_ENST00000372440.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000404857.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000404771.3_In_Frame_Del_p.SS58del NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 58 Poly-Ser. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) agaagaagaggaagaggaggagg 0.616 5 8 --- --- --- --- NEK3 4752 broad.mit.edu 37 13 52725327 52725327 + Frame_Shift_Del DEL A A - TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr13:52725327delA ENST00000400357.2 - 6 1795 c.502delT c.(502-504)atfs p.Y168fs NEK3_ENST00000452082.2_Frame_Shift_Del_p.Y189fs|NEK3_ENST00000339406.3_Frame_Shift_Del_p.Y168fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.Y168fs P51956 NEK3_HUMAN NIMA-related kinase 3 168 Interaction with VAV2.|Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) GGAGGCACATAATAAGGAGTT 0.393 2 4 --- --- --- --- NPIPB11 728888 broad.mit.edu 37 16 29395145 29395147 + In_Frame_Del DEL TAT TAT - TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr16:29395145_29395147delTAT ENST00000524087.1 - 8 1180_1182 c.1106_1108delATA c.(1105-1110)atc>a p.NI369del SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 GTTGTCTTGATATTATCATCTGC 0.576 2 4 --- --- --- --- NOVA2 4858 broad.mit.edu 37 19 46476609 46476610 + Translation_Start_Site INS - - G TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr19:46476609_46476610insG ENST00000263257.5 - 0 194_195 NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) TCGGGCTCCATGGGGGGGGCCT 0.762 3 3 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194895 28194900 + In_Frame_Del DEL TGCTGT TGCTGT - rs75719175 TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a77fe08f-c159-4135-a722-a811e62197e4 39a20f83-87e5-4f70-a8b8-c470c6ba2ef3 g.chr22:28194895_28194900delTGCTGT ENST00000302326.4 - 1 2586_2591 c.1632_1637delACAGCA c.(1630-1638)cag>ca p.QQQ547del NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 547 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 ctgctgctgctgctgttgctgttgct 0.646 T ETV6 """AML, meningioma""" 7 6 --- --- --- ---