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 GIGYF2 26058 broad.mit.edu 37 2 233710457 233710457 + Silent SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr2:233710457G>A ENST00000373566.3 + 27 3584 c.3387G>A c.(3385-3387)gtG>gtA p.V1129V GIGYF2_ENST00000409480.1_Silent_p.V1129V|GIGYF2_ENST00000373563.4_Silent_p.V1107V|GIGYF2_ENST00000409547.1_Silent_p.V1107V|GIGYF2_ENST00000409451.3_Silent_p.V1128V|GIGYF2_ENST00000409196.3_Silent_p.V1101V Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1107 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) CTGTAGGTGTGTCTAACCGGC 0.363000 4 75 0 0 0.184627 0 0 CACHD1 57685 broad.mit.edu 37 1 65117914 65117914 + Silent SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr1:65117914G>A ENST00000371073.2 + 10 1461 c.1461G>A c.(1459-1461)gtG>gtA p.V487V CACHD1_ENST00000290039.5_Silent_p.V436V|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 487 Cache 1. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GTGTGGACGTGAATCTGGCTT 0.368000 12 72 0 0 0.411799 0 0 FCGBP 8857 broad.mit.edu 37 19 40433640 40433640 + Missense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr19:40433640G>A ENST00000221347.6 - 2 636 c.629C>T c.(628-630)tCg>tTg p.S210L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 210 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTTTGACCCCGAGAGATCCAC 0.542000 9 75 0 0 0.361761 0 0 KMT2C 58508 broad.mit.edu 37 7 151879574 151879574 + Nonsense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr7:151879574G>A ENST00000355193.2 - 36 5589 c.5371C>T c.(5371-5373)Cag>Tag p.Q1791* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1791* lysine (K)-specific methyltransferase 2C p.Q1791*(2) AGAAGATGCTGAGAACCAAAT 0.468000 15 177 0 0 0.457914 0 0 TRPM3 80036 broad.mit.edu 37 9 73152080 73152080 + Missense_Mutation SNP C C T rs144341800 TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr9:73152080C>T ENST00000377110.2 - 25 4156 c.3913G>A c.(3913-3915)Gaa>Aaa p.E1305K TRPM3_ENST00000408909.2_Missense_Mutation_p.E1164K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1167K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1177K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1154K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1177K|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1305K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1309K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1332K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1167K NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1330 integral to membrane calcium channel activity p.E1309K(1)|p.E1177K(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GTGTTCCCTTCCTGGCTGTTG 0.567000 23 100 0 0 0.681144 0 0 KCNAB1 7881 broad.mit.edu 37 3 156009858 156009858 + Silent SNP G G T rs138625130 TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr3:156009858G>T ENST00000302490.8 + 1 1033 c.162G>T c.(160-162)acG>acT p.T54T KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389634.5_Silent_p.T54T NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 72 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.T54T(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GGACGTTCACGCCTCAGCATC 0.567000 4 81 1.23904e-05 1.42125e-05 0.184627 1 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 5 44 0 0 0.184627 0 0 KMT2C 58508 broad.mit.edu 37 7 151878394 151878394 + Missense_Mutation SNP G G C TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr7:151878394G>C ENST00000355193.2 - 36 6769 c.6551C>G c.(6550-6552)tCt>tGt p.S2184C KMT2C_ENST00000262189.6_Missense_Mutation_p.S2184C lysine (K)-specific methyltransferase 2C AGTTTGTGTAGATGGTCTTGG 0.483000 6 89 0 0 0.278610 0 0 FRAS1 80144 broad.mit.edu 37 4 79207662 79207662 + Silent SNP C C T TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr4:79207662C>T ENST00000264895.6 + 14 1943 c.1503C>T c.(1501-1503)gaC>gaT p.D501D FRAS1_ENST00000264899.6_Silent_p.D501D|FRAS1_ENST00000325942.6_Silent_p.D501D NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 501 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCTGTGGGGACGGCTTCTACC 0.632000 6 77 0 0 0.217242 0 0 ZGPAT 84619 broad.mit.edu 37 20 62340073 62340073 + Missense_Mutation SNP C C G TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr20:62340073C>G ENST00000328969.5 + 2 268 c.141C>G c.(139-141)atC>atG p.I47M ZGPAT_ENST00000448100.1_Missense_Mutation_p.I47M|ZGPAT_ENST00000355969.6_Missense_Mutation_p.I47M|ZGPAT_ENST00000369967.3_Missense_Mutation_p.I47M|ZGPAT_ENST00000357119.4_Missense_Mutation_p.I47M|ZGPAT_ENST00000490623.1_3'UTR NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 47 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) AGGAGCTCATCGAGCTCACCG 0.672000 7 64 0 0 0.307466 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713867 142713867 + RNA SNP C C G rs142097515 by1000genomes TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr1:142713867C>G ENST00000369381.2 - 0 738 TCATTTCTTCCTGATTATGAA 0.303000 3 51 0 0 0.248553 0 0 NDUFB10 4716 broad.mit.edu 37 16 2011570 2011570 + Silent SNP C C T TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr16:2011570C>T ENST00000543683.2 + 3 424 c.342C>T c.(340-342)aaC>aaT p.N114N NDUFB10_ENST00000569148.1_Silent_p.N103N|NDUFB10_ENST00000268668.6_Silent_p.N114N O96000 NDUBA_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 114 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding lung(1)|urinary_tract(1) 2 NADH(DB00157) AAGGACAGAACTACCAGCAGA 0.557000 14 89 0 0 0.457914 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 85 0 0 0.217242 0 0 PSME4 23198 broad.mit.edu 37 2 54146345 54146345 + Missense_Mutation SNP C C A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr2:54146345C>A ENST00000404125.1 - 20 2514 c.2459G>T c.(2458-2460)tGt>tTt p.C820F PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 820 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCCAATTAAACAGTTGTGCAC 0.333000 3 50 0.00024832 0.000269013 0.150653 1 0 KIF1C 10749 broad.mit.edu 37 17 4906130 4906130 + Missense_Mutation SNP C C T TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr17:4906130C>T ENST00000320785.5 + 8 1070 c.713C>T c.(712-714)tCg>tTg p.S238L NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 238 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GGGCTGGACTCGGAGAAGGTG 0.632000 6 56 0 0 0.217242 0 0 KMT2C 58508 broad.mit.edu 37 7 151878929 151878929 + Missense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr7:151878929G>A ENST00000355193.2 - 36 6234 c.6016C>T c.(6016-6018)Cac>Tac p.H2006Y KMT2C_ENST00000262189.6_Missense_Mutation_p.H2006Y lysine (K)-specific methyltransferase 2C TTAGTAAAGTGATCACTGGTT 0.463000 15 201 0 0 0.520397 0 0 ESPNP 0 broad.mit.edu 37 1 17023143 17023143 + RNA SNP C C T rs559507 by1000genomes TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr1:17023143C>T ENST00000492551.1 - 0 1720 NR_026567.1 TGTGGGGCTCCGGACTGGTAA 0.692000 8 25 0 0 0.307466 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368466 145368466 + Missense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr1:145368466G>A ENST00000342960.5 + 84 10479 c.10444G>A c.(10444-10446)Gaa>Aaa p.E3482K NBPF10_ENST00000369338.1_Missense_Mutation_p.E598K|NBPF10_ENST00000369339.2_Missense_Mutation_p.E600K NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3482 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GATGGAAGTGGAAGAGCGTGA 0.468000 30 494 0 0 0.750413 0 0 AIM1 202 broad.mit.edu 37 6 106992466 106992466 + Missense_Mutation SNP C C T TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr6:106992466C>T ENST00000369066.3 + 10 4323 c.3836C>T c.(3835-3837)cCt>cTt p.P1279L AIM1_ENST00000535438.1_Missense_Mutation_p.P98L|AIM1_ENST00000487681.1_3'UTR NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1279 Beta/gamma crystallin 'Greek key' 6. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TATGAGAAACCTGGATTTACC 0.398000 4 69 0 0 0.184627 0 0 TIPIN 54962 broad.mit.edu 37 15 66633685 66633685 + Missense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr15:66633685G>A ENST00000261881.4 - 7 570 c.485C>T c.(484-486)gCg>gTg p.A162V TIPIN_ENST00000367709.4_Missense_Mutation_p.A61V NM_017858.2 NP_060328.2 Q9BVW5 TIPIN_HUMAN TIMELESS interacting protein 162 cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection cytoplasm|nuclear chromatin protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 7 ATTATTCTCCGCAACTTCATC 0.363000 3 24 0 0 0.115264 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 19 52 0 0 0.575678 0 0 KMT2C 58508 broad.mit.edu 37 7 151879081 151879081 + Missense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr7:151879081G>A ENST00000355193.2 - 36 6082 c.5864C>T c.(5863-5865)tCt>tTt p.S1955F KMT2C_ENST00000262189.6_Missense_Mutation_p.S1955F lysine (K)-specific methyltransferase 2C TGTCGTGGAAGAAGAACATAA 0.463000 12 210 0 0 0.457914 0 0 PLP1 5354 broad.mit.edu 37 X 103042822 103042822 + Silent SNP C C T TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chrX:103042822C>T ENST00000418604.1 + 5 829 c.549C>T c.(547-549)acC>acT p.T183T PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Silent_p.T183T|PLP1_ENST00000361621.2_Silent_p.T148T NM_001128834.1 NP_001122306.1 P60201 MYPR_HUMAN proteolipid protein 1 183 T -> N (in HLD1). cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 CCTGGACCACCTGCCAGTCTA 0.527000 33 92 0 0 0.769981 0 0 BOD1L1 259282 broad.mit.edu 37 4 13593582 13593582 + Frame_Shift_Del DEL G G - TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr4:13593582delG ENST00000040738.5 - 13 8248 c.8113delC c.(8113-8115)agfs p.Q2705fs NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2705 DNA binding GGCTCCCTCTGGAGTTCAGCT 0.308 2 4 --- --- --- --- RP11-584P21.2 0 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 2 4 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 4 5 --- --- --- ---