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 SRSF12 135295 broad.mit.edu 37 6 89808601 89808601 + Missense_Mutation SNP G G C TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr6:89808601G>C ENST00000452027.2 - 5 675 c.482C>G c.(481-483)tCt>tGt p.S161C NM_080743.4 NP_542781.3 Q8WXF0 SRS12_HUMAN serine/arginine-rich splicing factor 12 161 Arg/Ser-rich (RS domain). assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome nucleoplasm nucleotide binding|RNA binding|RS domain binding|unfolded protein binding autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 TGCTGAGGTAGACCGCCTTGG 0.428000 44 123 0 0 1 0 0 FMR1 2332 broad.mit.edu 37 X 147026458 147026458 + Missense_Mutation SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chrX:147026458C>T ENST00000218200.8 + 14 1707 c.1478C>T c.(1477-1479)tCa>tTa p.S493L FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370475.4_Missense_Mutation_p.S514L|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000440235.2_Missense_Mutation_p.S161L|FMR1_ENST00000439526.2_Missense_Mutation_p.S491L|FMR1_ENST00000370477.1_Missense_Mutation_p.S481L NM_001185076.1|NM_001185082.1 NP_001172005.1|NP_001172011.1 Q06787 FMR1_HUMAN fragile X mental retardation 1 514 Interaction with RANBP9. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(192;6.56e-05) AGTGATTGGTCATTAGCTCCA 0.493000 Fragile X syndrome 8 21 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25144833 25144833 + RNA SNP A A G TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr13:25144833A>G ENST00000453498.1 + 0 374 GGAGCCGCAAATATGGGAACT 0.443000 3 25 0 0 1 0 0 GABBR1 0 broad.mit.edu 37 6 29591190 29591190 + Silent SNP T T G TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr6:29591190T>G ENST00000377034.4 - 8 1190 c.855A>C c.(853-855)cgA>cgC p.R285R GABBR1_ENST00000355973.3_Silent_p.R168R|GABBR1_ENST00000376977.3_Silent_p.R285R|GABBR1_ENST00000377016.4_Silent_p.R223R|GABBR1_ENST00000377012.4_Silent_p.R168R NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 285 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) ATGGGTGCGTTCGGAAGAAAG 0.562000 6 20 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50165518 50165518 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr19:50165518C>T ENST00000597198.1 - 6 1050 c.669G>A c.(667-669)ccG>ccA p.P223P IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377139.3_Silent_p.P223P|IRF3_ENST00000600911.1_Silent_p.P223P|IRF3_ENST00000593922.1_Silent_p.P77P|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000309877.7_Silent_p.P223P|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599144.1_Silent_p.P77P|IRF3_ENST00000601291.1_Silent_p.P223P|IRF3_ENST00000598808.1_Silent_p.P77P Q14653 IRF3_HUMAN interferon regulatory factor 3 223 Involved in HERC5 binding. interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) GCAGGCCCTCCGGGCAGGAGA 0.657000 4 30 0 0 1 0 0 RRAGD 58528 broad.mit.edu 37 6 90082246 90082246 + Missense_Mutation SNP G G T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr6:90082246G>T ENST00000369415.4 - 6 1237 c.961C>A c.(961-963)Ctt>Att p.L321I RRAGD_ENST00000359203.2_Missense_Mutation_p.L170I NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 321 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) GTATTATTAAGCTTTATGATG 0.398000 OREG0017567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 30 4.3838e-07 4.59255e-07 1 1 0 DHCR24 1718 broad.mit.edu 37 1 55349397 55349397 + Missense_Mutation SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr1:55349397C>T ENST00000371269.3 - 2 379 c.281G>A c.(280-282)cGc>cAc p.R94H DHCR24_ENST00000535035.1_Missense_Mutation_p.R53H NM_014762.3 NP_055577.1 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase 94 FAD-binding PCMH-type. anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 CCAGCCAGGGCGCCCCGTGCA 0.562000 22 75 0 0 1 0 0 ANAPC7 51434 broad.mit.edu 37 12 110812081 110812081 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr12:110812081C>T ENST00000455511.3 - 11 1668 c.1668G>A c.(1666-1668)gaG>gaA p.E556E ANAPC7_ENST00000481473.1_5'UTR NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 556 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 CCGTGGGACTCTCCTCCTTCT 0.577000 3 28 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370229 86370229 + Missense_Mutation SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr13:86370229C>T ENST00000400286.2 - 2 1013 c.415G>A c.(415-417)Gaa>Aaa p.E139K NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 139 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGCAGGAATTCCAGGTTTTCC 0.363000 11 94 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 58 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36365172 36365172 + Silent SNP C C T rs148455535 by1000genomes TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr17:36365172C>T ENST00000312412.4 - 4 422 c.423G>A c.(421-423)acG>acA p.T141T RP11-1407O15.2_ENST00000544906.1_5'UTR kidney(1)|lung(3) 4 TTAAGGTTCCCGTACCTGTGA 0.348000 4 26 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184920 130184920 + Missense_Mutation SNP G G A rs138159153 by1000genomes TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr12:130184920G>A ENST00000422113.2 - 2 729 c.403C>T c.(403-405)Cgg>Tgg p.R135W NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 135 integral to membrane p.R135R(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ACTTTGTCCCGCAGGATGTGG 0.537000 7 23 0 0 1 0 0 ZNF362 149076 broad.mit.edu 37 1 33745738 33745738 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr1:33745738C>T ENST00000539719.1 + 5 533 c.363C>T c.(361-363)tcC>tcT p.S121S ZNF362_ENST00000373428.5_Silent_p.S121S NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TGGGGCTGTCCACCCGGACCC 0.687000 11 33 0 0 1 0 0 FBXL2 25827 broad.mit.edu 37 3 33420177 33420177 + Splice_Site SNP A A G TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr3:33420177A>G ENST00000484457.1 + 13 986 c.894_splice c.e13-1 p.I299_splice FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Splice_Site_p.I9_splice|FBXL2_ENST00000542085.1_Splice_Site_p.I9_splice|FBXL2_ENST00000538892.1_Splice_Site_p.I231_splice|FBXL2_ENST00000507198.1_Splice_Site_p.I231_splice|FBXL2_ENST00000538181.1_Splice_Site_p.I215_splice NM_012157.3 NP_036289.3 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 299 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 TTCTCTCCAGATAACCGACAG 0.428000 13 29 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134894 27134894 + Missense_Mutation SNP T T C TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr7:27134894T>C ENST00000343060.4 - 1 699 c.638A>G c.(637-639)aAc>aGc p.N213S HOXA1_ENST00000355633.5_3'UTR NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 213 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TTTGGGAGGGTTTCTTTTGAC 0.488000 5 31 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380277 25380277 + Missense_Mutation SNP G G T rs121913238 TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr12:25380277G>T ENST00000311936.3 - 3 372 c.181C>A c.(181-183)Caa>Aaa p.Q61K KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61K NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61K(32)|p.Q61E(10) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TACTCCTCTTGACCTGCTGTG 0.413000 Q61K(CALU6_LUNG) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 10 24 2.17888e-05 2.22955e-05 1 1 0 ZNF467 168544 broad.mit.edu 37 7 149462027 149462027 + Missense_Mutation SNP G G A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr7:149462027G>A ENST00000302017.3 - 5 1977 c.1564C>T c.(1564-1566)Cgc>Tgc p.R522C ZNF467_ENST00000484747.1_Intron NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGAAGCTGCGGGCGCAGACG 0.701000 5 18 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24416723 24416723 + Missense_Mutation SNP G G C TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr6:24416723G>C ENST00000378386.3 + 7 911 c.818G>C c.(817-819)tGg>tCg p.W273S MRS2_ENST00000443868.2_Missense_Mutation_p.W276S|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.W223S|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.W273S|MRS2_ENST00000483634.1_3'UTR NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 273 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 GTATCAAAATGGAGTGACCCA 0.318000 17 61 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762045 53762045 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr19:53762045C>T ENST00000341702.3 + 1 501 c.417C>T c.(415-417)atC>atT p.I139I NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 139 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CCTTGGTTATCCTATCTAAAA 0.383000 11 36 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180036 124180036 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr11:124180036C>T ENST00000357821.2 - 1 697 c.627G>A c.(625-627)gtG>gtA p.V209V NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CTAGGGTGGGCACCAAGGTGT 0.498000 5 32 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20148726 20148726 + Splice_Site SNP C C G TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chrX:20148726C>G ENST00000379607.5 - 6 541 c.e6-1 EIF1AX_ENST00000379593.1_Splice_Site NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TTGATTTTAGCTAAGGACACA 0.313000 7 32 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153924016 153924016 + Missense_Mutation SNP G G A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr1:153924016G>A ENST00000368633.1 - 11 1251 c.1124C>T c.(1123-1125)tCc>tTc p.S375F CRTC2_ENST00000368630.3_Missense_Mutation_p.S55F NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 375 Ser-rich. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding p.S375F(1) NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCCAAGGAGGAGGCAGGCAG 0.642000 6 38 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79383543 79383543 + Nonsense_Mutation SNP C C A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr1:79383543C>A ENST00000370742.3 - 11 1717 c.1654G>T c.(1654-1656)Gga>Tga p.G552* NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 552 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TATCTGTATCCTAGTGCTGCC 0.358000 4 82 0.00024832 0.00024832 1 1 0 CYTH1 9267 broad.mit.edu 37 17 76697789 76697789 + Missense_Mutation SNP T T A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr17:76697789T>A ENST00000589297.1 - 6 916 c.224A>T c.(223-225)cAt>cTt p.H75L CYTH1_ENST00000446868.3_Missense_Mutation_p.H134L|CYTH1_ENST00000361101.4_Missense_Mutation_p.H134L|CYTH1_ENST00000591455.1_Missense_Mutation_p.H134L|CYTH1_ENST00000585509.1_Missense_Mutation_p.H75L|CYTH1_ENST00000589296.1_Intron Q15438 CYH1_HUMAN cytohesin 1 134 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 AGTGAACTCATGCAGCTCCAC 0.463000 6 83 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10079134 10079134 + Missense_Mutation SNP G G A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr19:10079134G>A ENST00000264828.3 - 59 4326 c.4241C>T c.(4240-4242)cCg>cTg p.P1414L NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1414 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) AGCTTCTCCCGGGGGGCCAAT 0.592000 15 82 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93595969 93595969 + Missense_Mutation SNP G G T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr3:93595969G>T ENST00000394236.3 - 14 2027 c.1711C>A c.(1711-1713)Caa>Aaa p.Q571K PROS1_ENST00000407433.1_Missense_Mutation_p.Q440K NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 571 Laminin G-like 2. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TGAGATTGTTGATCGGAACAT 0.373000 9 34 5.4927e-09 5.89461e-09 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 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 5 35 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1046799 1046799 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr10:1046799C>T ENST00000360803.4 + 7 919 c.837C>T c.(835-837)ttC>ttT p.F279F GTPBP4_ENST00000545048.1_Silent_p.F232F|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Silent_p.F163F NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 279 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GACCTCTCTTCATCAACAAGG 0.463000 6 75 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7595248 7595248 + Missense_Mutation SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr19:7595248C>T ENST00000264079.6 + 12 1561 c.1436C>T c.(1435-1437)gCc>gTc p.A479V NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 479 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACGTTCGCCGCCATGCAGGCG 0.602000 14 157 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380278 25380278 + Silent SNP A A T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr12:25380278A>T ENST00000311936.3 - 3 371 c.180T>A c.(178-180)ggT>ggA p.G60G KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Silent_p.G60G NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 60 G -> R (in CFC syndrome; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors).|G -> S (in NS3). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61K(6)|p.G60G(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) ACTCCTCTTGACCTGCTGTGT 0.413000 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 11 22 0 0 1 0 0 IFRD1 3475 broad.mit.edu 37 7 112112868 112112868 + Missense_Mutation SNP G G A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr7:112112868G>A ENST00000403825.3 + 11 1479 c.1218G>A c.(1216-1218)atG>atA p.M406I IFRD1_ENST00000535603.1_Missense_Mutation_p.M356I|IFRD1_ENST00000005558.4_Missense_Mutation_p.M406I NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 406 LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366). multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 CCCCAGTGATGCTTGATGCTG 0.353000 7 41 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr21:11058248G>A ENST00000470054.1 - 0 399 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGCACAAGGATAATGATAC 0.433000 7 67 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 9 17 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 5 8 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr7:96635420_96635421insGCC ENST00000518156.2 + 1 561_562 c.131_132insGCC c.(130-132)ccc>cGCCcc p.43_44insR DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) caacagcaacagccgccgccgc 0.698 3 6 --- --- --- --- ZSWIM8 23053 broad.mit.edu 37 10 75554317 75554317 + Frame_Shift_Del DEL C C - TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr10:75554317delC ENST00000604729.1 + 14 3125 c.2828delC c.(2827-2829)tcfs p.S943fs ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S938fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S943fs|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.S938fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S905fs zinc finger, SWIM-type containing 8 CCCACAGGTTCCCGGCCCCCA 0.498 2 4 --- --- --- --- GSTO2 119391 broad.mit.edu 37 10 106035045 106035045 + Frame_Shift_Del DEL C C - TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr10:106035045delC ENST00000450629.2 + 3 724 c.96delC c.(94-96)tgfs p.C32fs GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000401888.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000338595.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000429569.2_Frame_Shift_Del_p.C4fs|GSTO2_ENST00000369707.1_Frame_Shift_Del_p.C4fs NM_001191013.1 NP_001177942.1 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 32 GST N-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) TGAGGTTCTGCCCCTATTCTC 0.642 OREG0020515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 44 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269805 31269806 + RNA INS - - AAG rs67001718 TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr12:31269805_31269806insAAG ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CAATATTCCTCAAACTTCTCTT 0.307 2 4 --- --- --- --- IGLV3-9 0 broad.mit.edu 37 22 23161844 23161845 + RNA DEL CC CC - rs72002333 TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr22:23161844_23161845delCC ENST00000390316.2 + 0 161 TGCTCATGGTCCCCTGAGGACA 0.554 4 6 --- --- --- ---