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 GLDN 342035 broad.mit.edu 37 15 51696486 51696486 + Silent SNP C C T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr15:51696486C>T ENST00000335449.6 + 10 1247 c.1191C>T c.(1189-1191)ggC>ggT p.G397G GLDN_ENST00000396399.2_Silent_p.G273G NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 397 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TTGAATTTGGCCAGGAAACAT 0.358000 4 128 0 0 1 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77202835 77202835 + Silent SNP G G A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr12:77202835G>A ENST00000426126.2 + 4 982 c.333G>A c.(331-333)tcG>tcA p.S111S ZDHHC17_ENST00000334822.5_Silent_p.S111S|ZDHHC17_ENST00000359019.4_Silent_p.S61S NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 111 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 ACTATATTTCGAAAGGTGCTA 0.289000 3 30 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29268261 29268261 + Missense_Mutation SNP A A T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr2:29268261A>T ENST00000379558.4 + 19 3058 c.2707A>T c.(2707-2709)Aca>Tca p.T903S FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.T848S NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 903 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GCTGGATGTCACAGATCGCCT 0.587000 11 80 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101720875 101720875 + Missense_Mutation SNP A A G TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr12:101720875A>G ENST00000261637.4 + 26 3232 c.3058A>G c.(3058-3060)Atg>Gtg p.M1020V NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1020 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GTATGGGCGAATGAAGAATAA 0.433000 30 49 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58134531 58134531 + Missense_Mutation SNP G G A rs117309766 by1000genomes TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr17:58134531G>A ENST00000184956.6 - 12 1973 c.1957C>T c.(1957-1959)Ctc>Ttc p.L653F HEATR6_ENST00000585976.1_Missense_Mutation_p.L653F NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 653 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) AGTCGAATGAGCCAGCAGGGC 0.557000 7 110 0 0 1 0 0 KERA 11081 broad.mit.edu 37 12 91449954 91449954 + Missense_Mutation SNP C C A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr12:91449954C>A ENST00000266719.3 - 2 352 c.105G>T c.(103-105)tgG>tgT p.W35C NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 35 LRRNT. response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 CATGAATAGTCCAATCATCTG 0.413000 10 48 1.76689e-08 1.86786e-08 1 1 0 FAM83G 644815 broad.mit.edu 37 17 18874966 18874966 + Silent SNP G G A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr17:18874966G>A ENST00000388995.6 - 6 2401 c.2178C>T c.(2176-2178)agC>agT p.S726S SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.S726S|FAM83G_ENST00000345041.4_Silent_p.S726S|SLC5A10_ENST00000395645.3_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 726 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 AGCTCTGGACGCTGTCAGCAG 0.647000 4 63 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49434307 49434307 + Nonsense_Mutation SNP G G A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr12:49434307G>A ENST00000301067.7 - 31 7245 c.7246C>T c.(7246-7248)Cag>Tag p.Q2416* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GACTGGGACTGAGGACTGGCA 0.647000 4 31 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34824168 34824168 + Missense_Mutation SNP C C T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:34824168C>T ENST00000192788.5 + 10 1444 c.1273C>T c.(1273-1275)Ctc>Ttc p.L425F UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L425F NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 425 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGTAGACTCTCTCTTTCGGAG 0.478000 17 87 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116729350 116729350 + Missense_Mutation SNP G G A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr11:116729350G>A ENST00000375300.1 - 20 2692 c.2687C>T c.(2686-2688)tCg>tTg p.S896L SIK3_ENST00000488337.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.S838L|SIK3_ENST00000375288.1_Intron Q9Y2K2 SIK3_HUMAN SIK family kinase 3 838 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GGACTGGTCCGAAAACAGATG 0.557000 4 106 0 0 1 0 0 VTA1 51534 broad.mit.edu 37 6 142490757 142490757 + Missense_Mutation SNP A A T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:142490757A>T ENST00000367630.4 + 3 336 c.278A>T c.(277-279)tAt>tTt p.Y93F VTA1_ENST00000452973.2_Missense_Mutation_p.Y35F|VTA1_ENST00000367621.1_Missense_Mutation_p.Y35F NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 93 Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TTGGAGAATTATGCTTTGAAA 0.303000 3 29 0 0 1 0 0 G3BP2 9908 broad.mit.edu 37 4 76571629 76571629 + Missense_Mutation SNP C C T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr4:76571629C>T ENST00000359707.4 - 11 1854 c.1069G>A c.(1069-1071)Gtt>Att p.V357I G3BP2_ENST00000357854.3_Missense_Mutation_p.V324I|G3BP2_ENST00000395719.3_Missense_Mutation_p.V357I NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 357 RRM. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGTTCCACAACGTTTCCAAAA 0.358000 7 191 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99649664 99649664 + Silent SNP G G C TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr3:99649664G>C ENST00000331335.5 - 2 671 c.201C>G c.(199-201)ctC>ctG p.L67L FILIP1L_ENST00000398326.2_Silent_p.L67L|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.L67L|CMSS1_ENST00000421999.2_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 67 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CATCTCTTGAGAGGTCTTCTG 0.512000 3 20 0 0 1 0 0 SCYL3 57147 broad.mit.edu 37 1 169839411 169839411 + Missense_Mutation SNP T T G TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr1:169839411T>G ENST00000367772.4 - 6 807 c.610A>C c.(610-612)Atc>Ctc p.I204L SCYL3_ENST00000367771.5_Missense_Mutation_p.I204L|SCYL3_ENST00000367770.1_Missense_Mutation_p.I204L|SCYL3_ENST00000470238.1_5'UTR NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 204 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCATTTAAGATTGTGAGCAAA 0.408000 9 63 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1834579 1834579 + Silent SNP C C T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr4:1834579C>T ENST00000302787.2 - 6 1268 c.972G>A c.(970-972)ccG>ccA p.P324P NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 324 LETM1. cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CCACCAGCTGCGGCCGTGTCA 0.567000 4 92 0 0 1 0 0 HIST1H2BF 8343 broad.mit.edu 37 6 26199817 26199817 + Missense_Mutation SNP C C T rs80084141 TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:26199817C>T ENST00000359985.1 + 1 70 c.31C>T c.(31-33)Cca>Tca p.P11S NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 11 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) CGCTCCTGCTCCAAAAAAGGG 0.483000 9 89 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39755838 39755838 + Silent SNP G G A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr21:39755838G>A ENST00000442448.1 - 11 1147 c.876C>T c.(874-876)ggC>ggT p.G292G ERG_ENST00000398911.1_Silent_p.G292G|ERG_ENST00000398910.1_Silent_p.G293G|ERG_ENST00000398907.1_Silent_p.G286G|ERG_ENST00000417133.2_Silent_p.G316G|ERG_ENST00000398897.1_Silent_p.G193G|ERG_ENST00000453032.2_Silent_p.G217G|ERG_ENST00000398905.1_Silent_p.G285G|ERG_ENST00000288319.7_Silent_p.G309G|ERG_ENST00000398919.2_Silent_p.G316G NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 316 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) GCTGGATCTGGCCACTGCCTA 0.567000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 4 46 0 0 1 0 0 SESN2 83667 broad.mit.edu 37 1 28598206 28598206 + Missense_Mutation SNP A A C TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr1:28598206A>C ENST00000253063.3 + 3 499 c.178A>C c.(178-180)Agc>Cgc p.S60R NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 60 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) GGGGGCTGAGAGCCTCGAGCA 0.592000 5 61 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754653 49754653 + Missense_Mutation SNP A A G TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:49754653A>G ENST00000304801.3 - 1 400 c.248T>C c.(247-249)gTt>gCt p.V83A NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 83 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TTTGAGCTCAACAGCAACAGG 0.517000 15 90 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3952899 3952899 + RNA SNP A A T rs17410906 TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr4:3952899A>T ENST00000281228.8 - 0 208 FAM86EP_ENST00000313946.8_RNA AGCACCGGGCATACTTGACTG 0.557000 6 56 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102856991 102856991 + RNA SNP C C A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr7:102856991C>A ENST00000312132.4 - 0 3091 CTTGAATTAGCTAGAAAATAA 0.294000 13 36 2.31682e-05 2.38118e-05 1 1 0 FRS2 10818 broad.mit.edu 37 12 69968695 69968695 + Missense_Mutation SNP C C G TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr12:69968695C>G ENST00000299293.2 + 10 1997 c.1487C>G c.(1486-1488)tCt>tGt p.S496C FRS2_ENST00000550389.1_Missense_Mutation_p.S496C|FRS2_ENST00000549921.1_Missense_Mutation_p.S496C|FRS2_ENST00000397997.2_Missense_Mutation_p.S496C NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 496 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GATGGTACATCTAGGAAAACT 0.443000 16 77 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233655777 233655777 + Missense_Mutation SNP A A T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr2:233655777A>T ENST00000373566.3 + 12 1253 c.1056A>T c.(1054-1056)gaA>gaT p.E352D GIGYF2_ENST00000409480.1_Missense_Mutation_p.E352D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E330D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E161D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E324D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E330D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E352D Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 330 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) CTGTGGACGAAGGGGAGGAGT 0.448000 3 43 0 0 1 0 0 WNT6 7475 broad.mit.edu 37 2 219735845 219735845 + Silent SNP G G A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr2:219735845G>A ENST00000233948.3 + 2 394 c.177G>A c.(175-177)ccG>ccA p.P59P WNT6_ENST00000486233.1_Intron NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 59 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGCTGAGCCGGAAGTGGTGG 0.687000 5 186 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569210 99569210 + Missense_Mutation SNP C C G TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr3:99569210C>G ENST00000331335.5 - 5 1780 c.1310G>C c.(1309-1311)aGc>aCc p.S437T FILIP1L_ENST00000471562.1_Missense_Mutation_p.S197T|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S197T|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S437T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.S13T|CMSS1_ENST00000421999.2_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 437 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TTCTTGTTTGCTTTTGTTGAA 0.353000 5 53 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3952901 3952901 + RNA SNP A A T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr4:3952901A>T ENST00000281228.8 - 0 206 FAM86EP_ENST00000313946.8_RNA CACCGGGCATACTTGACTGAC 0.552000 6 55 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr22:42538870A>C ENST00000433992.1 - 0 475 CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 3 31 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138657479 138657479 + Missense_Mutation SNP G G A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr9:138657479G>A ENST00000298480.5 + 13 1284 c.1210G>A c.(1210-1212)Gtg>Atg p.V404M KCNT1_ENST00000371757.2_Missense_Mutation_p.V404M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V385M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V365M|KCNT1_ENST00000263604.3_Missense_Mutation_p.V385M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V359M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V385M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V371M B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 404 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GGACTATTACGTGGTCATCCT 0.662000 7 20 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 40 0 0 1 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830879 43830879 + Missense_Mutation SNP A A T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr1:43830879A>T ENST00000372458.3 - 3 332 c.215T>A c.(214-216)cTc>cAc p.L72H ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Missense_Mutation_p.L72H NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 72 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTAGAGGGAGAGTGCCACCAG 0.532000 12 24 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16953130 16953131 + RNA INS - - A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr1:16953130_16953131insA ENST00000412962.1 - 0 622 GCGTGAGATGGAAAAAAAAATC 0.545 3 4 --- --- --- --- CCDC74B-AS1 0 broad.mit.edu 37 2 130893081 130893081 + RNA DEL A A - TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr2:130893081delA ENST00000427638.1 + 0 542 NR_033903.1 actccatctcaaaaaaaaaaa 0.562 3 4 --- --- --- --- KCNQ5 56479 broad.mit.edu 37 6 73830210 73830210 + Frame_Shift_Del DEL T T - TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:73830210delT ENST00000342056.2 + 8 1528 c.1130delT c.(1129-1131)gtfs p.V377fs KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370398.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.V377fs NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 377 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ATGCAGTGTGTTTGGCGTAGT 0.413 8 26 --- --- --- --- MIS18BP1 55320 broad.mit.edu 37 14 45693538 45693538 + Frame_Shift_Del DEL A A - TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr14:45693538delA ENST00000310806.4 - 11 2710 c.2252delT c.(2251-2253)tgfs p.L751fs NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 751 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TATTTTCTTCAATTTTGGTAA 0.323 22 48 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 8 26 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050841 58050841 + RNA DEL T T - rs74362551 TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr17:58050841delT ENST00000586209.1 + 0 158 acagggtttcTTTTTTTTTTT 0.413 3 4 --- --- --- ---