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 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 4 85 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72861634 72861634 + Silent SNP C C T TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr7:72861634C>T ENST00000339594.4 - 16 4142 c.3804G>A c.(3802-3804)gaG>gaA p.E1268E BAZ1B_ENST00000404251.1_Silent_p.E1268E NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1268 Poly-Glu. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) cctcctcctcctcttcttcct 0.438000 4 109 0 0 1 0 0 RPLP0P2 0 broad.mit.edu 37 11 61405030 61405030 + RNA SNP T T A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr11:61405030T>A ENST00000496593.1 + 0 1634 NR_002775.2 ctgctgctgctgcAGCCCCAG 0.552000 3 43 0 0 1 0 0 SRPX2 27286 broad.mit.edu 37 X 99920610 99920610 + Missense_Mutation SNP G G A rs146063801 byFrequency TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chrX:99920610G>A ENST00000373004.3 + 7 1165 c.737G>A c.(736-738)cGa>cAa p.R246Q NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 246 HYR. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 GCCTATGACCGAGCCTACAAC 0.488000 105 194 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37537802 37537802 + Missense_Mutation SNP C C T TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr9:37537802C>T ENST00000432825.2 - 3 772 c.724G>A c.(724-726)Gtc>Atc p.V242I RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 242 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) TTTTCCAGGACACACAGGGGC 0.498000 27 56 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 5 52 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146156288 146156288 + Missense_Mutation SNP A A G TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr8:146156288A>G ENST00000276816.4 - 4 2071 c.1885T>C c.(1885-1887)Tac>Cac p.Y629H ZNF16_ENST00000394909.2_Missense_Mutation_p.Y629H NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 629 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CTGCATTTGTAGGGGCGCTCG 0.537000 4 150 0 0 1 0 0 DDX51 317781 broad.mit.edu 37 12 132625900 132625900 + Silent SNP C C T TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr12:132625900C>T ENST00000397333.3 - 8 1208 c.1170G>A c.(1168-1170)gcG>gcA p.A390A NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 390 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) GGAAGGCGGCCGCCACCACCC 0.687000 91 159 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39262611 39262611 + Missense_Mutation SNP G G A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr22:39262611G>A ENST00000407418.3 - 5 965 c.842C>T c.(841-843)cCt>cTt p.P281L CBX6_ENST00000216083.6_Missense_Mutation_p.P263L O95503 CBX6_HUMAN chromobox homolog 6 281 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) CTGTGGTGTAGGCGAGGGGCA 0.746000 13 11 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102339349 102339349 + Missense_Mutation SNP T T A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chrX:102339349T>A ENST00000395065.3 - 3 373 c.272A>T c.(271-273)gAg>gTg p.E91V NXF3_ENST00000425463.2_Missense_Mutation_p.E2V|NXF3_ENST00000425644.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 91 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TTGCTCTCTCTCCATGTTAAC 0.478000 111 173 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 67 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr8:12957624C>G ENST00000276297.4 - 9 2631 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 4 98 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821645 72821645 + Silent SNP G G A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr16:72821645G>A ENST00000268489.5 - 10 11202 c.10530C>T c.(10528-10530)ggC>ggT p.G3510G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2596G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3510 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cactgccaccgccgccgccgc 0.726000 3 39 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 79 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 5 68 0 0 1 0 0 LAMTOR5 10542 broad.mit.edu 37 1 110950445 110950445 + Missense_Mutation SNP C C T TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr1:110950445C>T ENST00000256644.4 - 1 119 c.44G>A c.(43-45)aGc>aAc p.S15N LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA NM_006402.2 NP_006393.2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 AAGGCTTGGGCTCCCCGCGCG 0.627000 33 41 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31500259 31500259 + Missense_Mutation SNP G G A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr16:31500259G>A ENST00000330498.3 + 11 1358 c.1339G>A c.(1339-1341)Gca>Aca p.A447T NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 447 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GGTGCAGGCGGCACAGGGCGG 0.682000 4 126 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54919331 54919331 + Missense_Mutation SNP G G A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr3:54919331G>A ENST00000474759.1 + 22 1984 c.1936G>A c.(1936-1938)Gat>Aat p.D646N CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D646N|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D552N|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D646N|CACNA2D3-AS1_ENST00000471265.1_RNA NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 646 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGAACATCCCGATGTGTCCTT 0.483000 50 86 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539568 56539568 + Missense_Mutation SNP G G A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr19:56539568G>A ENST00000390649.3 + 7 1969 c.1969G>A c.(1969-1971)Gtt>Att p.V657I NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 657 mitochondrion|nucleolus ATP binding p.V657I(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GGGCTGTCCCGTTCCCCTGGG 0.597000 50 76 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33338270 33338270 + Silent SNP C C T TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr20:33338270C>T ENST00000374796.2 - 10 4298 c.1728G>A c.(1726-1728)ccG>ccA p.P576P NCOA6_ENST00000359003.2_Silent_p.P576P Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 576 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TCATATTTGGCGGCCCGTGGG 0.453000 4 135 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32155509 32155509 + Missense_Mutation SNP T T A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr6:32155509T>A ENST00000375050.4 - 5 1055 c.785A>T c.(784-786)tAt>tTt p.Y262F NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 262 transcription factor binding p.Y262F(3) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GGAGTAGAAATACTCATTTAG 0.517000 3 31 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33561211 33561211 + Missense_Mutation SNP G G A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr5:33561211G>A ENST00000504830.1 - 20 4381 c.4046C>T c.(4045-4047)gCg>gTg p.A1349V ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A1264V NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1349 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CTGGATGGCCGCACAGTCAGA 0.572000 HNSCC(64;0.19) 4 110 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15876 15876 + Missense_Mutation SNP T T C TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chrM:15876T>C ENST00000361789.2 + 1 1130 c.1130T>C c.(1129-1131)cTc>cCc p.377_377insP mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 AAACAAAATACTCAAATGGGC 0.368000 6 10 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 119 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49575500 49575500 + Missense_Mutation SNP G G A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr19:49575500G>A ENST00000221444.1 - 1 698 c.343C>T c.(343-345)Ccg>Tcg p.P115S NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 115 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) CGCTCGGGCGGCACCGGGCAG 0.746000 3 37 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13850192 13850192 + Silent SNP T T C TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr20:13850192T>C ENST00000284951.5 - 14 1286 c.1212A>G c.(1210-1212)aaA>aaG p.K404K SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.K404K Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 404 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 CGGGCCACCCTTTTTCCGCAG 0.393000 3 111 0 0 1 0 0 JAK2 3717 broad.mit.edu 37 9 5044418 5044418 + Silent SNP T T C TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr9:5044418T>C ENST00000381652.3 + 5 860 c.366T>C c.(364-366)cgT>cgC p.R122R JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Silent_p.R122R NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 122 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) ACTTTCCTCGTTGGTATTGCA 0.393000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 3 138 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15741 15741 + Missense_Mutation SNP T T C TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chrM:15741T>C ENST00000361789.2 + 1 995 c.995T>C c.(994-996)cTc>cCc p.332_332insP mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 AGCCGCAGACCTCCTCATTCT 0.428000 15 0 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187532443 187532443 + Silent SNP G G A TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr2:187532443G>A ENST00000261023.3 + 24 2647 c.2373G>A c.(2371-2373)gaG>gaA p.E791E ITGAV_ENST00000433736.2_Silent_p.E745E|ITGAV_ENST00000374907.3_Silent_p.E755E|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 791 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) CAAACTGGGAGCACAAGGAGA 0.418000 4 172 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a 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 37 57 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70598838 70598838 + Silent SNP T T C TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chrX:70598838T>C ENST00000449580.1 + 8 1365 c.1314T>C c.(1312-1314)ccT>ccC p.P438P TAF1_ENST00000423759.1_Silent_p.P459P|TAF1_ENST00000276072.3_Silent_p.P459P|TAF1_ENST00000373790.4_Silent_p.P438P P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 438 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GCTGGCTTCCTTCTAGCATGA 0.498000 5 287 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17085177 17085177 + RNA SNP G G C TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr1:17085177G>C ENST00000455405.2 - 0 99 AACCTGGGGGGGTCCAGGATT 0.577000 6 53 0 0 1 0 0 ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 8 342 --- --- --- --- SH3BP5 9467 broad.mit.edu 37 3 15373833 15373835 + In_Frame_Del DEL TCC TCC - TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr3:15373833_15373835delTCC ENST00000383791.3 - 1 301_303 c.81_83delGGA c.(79-84)gaa>ga p.EE27del SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_Intron NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 27 Glu-rich. intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 catcccctcttcctcctcctcct 0.719 3 5 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560458 147560466 + In_Frame_Del DEL GGCGGCGGC GGCGGCGGC - rs67907220 TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr4:147560458_147560466delGGCGGCGGC ENST00000281321.3 + 1 414_422 c.166_174delGGCGGCGGC c.(166-174)del p.GGG65del AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 65 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CGCTggtggtggcggcggcggcggcggcg 0.761 8 8 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 7 402 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr7:91752494delT ENST00000003100.8 - 7 1191 c.1026delA c.(1024-1026)aafs p.K342fs LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 336 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTAAATAACATTTTTTTTGAA 0.398 8 225 --- --- --- --- DAB2IP 153090 broad.mit.edu 37 9 124522389 124522391 + In_Frame_Del DEL AAG AAG - TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr9:124522389_124522391delAAG ENST00000408936.3 + 6 1023_1025 c.841_843delAAG c.(841-843)del p.K285del DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 285 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGACCGACAAGAAGAAGAAGA 0.601 7 140 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 7 143 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 3 4 --- --- --- --- IFFO1 25900 broad.mit.edu 37 12 6649704 6649706 + In_Frame_Del DEL GGC GGC - rs144019095 TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr12:6649704_6649706delGGC ENST00000436152.2 - 11 1273_1275 c.714_716delGCC c.(712-717)cca>cc p.PP238del IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 541 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 AGCCTCGCTTGGCGGCGGCGGCG 0.601 7 217 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 8 14 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 7 270 --- --- --- --- CAPN15 6650 broad.mit.edu 37 16 597239 597241 + In_Frame_Del DEL AGG AGG - TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr16:597239_597241delAGG ENST00000219611.2 + 4 764_766 c.401_403delAGG c.(400-405)cag>c p.QE134del LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 aaggaggagcaggaggaggagga 0.714 3 4 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 3 6 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 11 362 --- --- --- --- SNAP25-AS1 0 broad.mit.edu 37 20 10152894 10152895 + RNA INS - - G TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr20:10152894_10152895insG ENST00000603542.1 - 0 638 SNAP25-AS1_ENST00000426491.1_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000605592.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000451151.1_RNA NR_040710.1 cgcgggggggcggggggggcAC 0.723 3 5 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 7 372 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-EL-A3N2-01A-11D-A20C-08 TCGA-EL-A3N2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f84a779-b700-4702-b234-39c737bc0d0c e7aeb5ff-8428-4949-a030-0b0463322b6a g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 7 173 --- --- --- ---