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 VDAC2 7417 broad.mit.edu 37 10 76980618 76980618 + Silent SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr10:76980618G>A ENST00000535553.1 + 8 713 c.357G>A c.(355-357)gaG>gaA p.E119E VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Silent_p.E158E|VDAC2_ENST00000313132.4_Silent_p.E173E|VDAC2_ENST00000332211.6_Silent_p.E158E P45880 VDAC2_HUMAN voltage-dependent anion channel 2 158 mitochondrial nucleoid|mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 10 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) Dihydroxyaluminium(DB01375) TTGGTTATGAGGGCTGGCTTG 0.468000 12 44 0 0 1 0 0 MYL10 93408 broad.mit.edu 37 7 101267513 101267513 + Missense_Mutation SNP C C T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr7:101267513C>T ENST00000223167.4 - 2 287 c.110G>A c.(109-111)gGc>gAc p.G37D NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 37 mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 GCTGGCGGTGCCTTCTGCTCT 0.587000 21 64 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46180213 46180213 + Missense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr19:46180213G>A ENST00000590918.1 + 8 739 c.640G>A c.(640-642)Gct>Act p.A214T GIPR_ENST00000263281.3_Missense_Mutation_p.A214T|GIPR_ENST00000304207.8_Missense_Mutation_p.A178T NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 214 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) CTAGGCCCTCGCTGCCTGCCG 0.662000 3 62 0 0 1 0 0 C3orf35 339883 broad.mit.edu 37 3 37458938 37458938 + Missense_Mutation SNP A A G TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr3:37458938A>G ENST00000328376.5 + 5 1160 c.181A>G c.(181-183)Agt>Ggt p.S61G C3orf35_ENST00000426078.1_Missense_Mutation_p.S61G|C3orf35_ENST00000452017.2_Missense_Mutation_p.S61G|C3orf35_ENST00000425932.1_Missense_Mutation_p.S61G|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425564.2_Missense_Mutation_p.S61G NM_178339.2 NP_848029.2 Q8IVJ8 APRG1_HUMAN chromosome 3 open reading frame 35 61 integral to membrane NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 11 CCTGCAGGGCAGTGCTCAGCA 0.463000 26 77 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7164513 7164513 + Missense_Mutation SNP A A G TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr2:7164513A>G ENST00000320892.6 + 7 965 c.523A>G c.(523-525)Atg>Gtg p.M175V RNF144A_ENST00000467276.1_3'UTR NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 175 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) TGCTTTCAAAATGGAAGAAGA 0.567000 20 65 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 81 0 0 1 0 0 MYD88 4615 broad.mit.edu 37 3 38180395 38180395 + Silent SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr3:38180395G>A ENST00000417037.2 + 1 427 c.243G>A c.(241-243)gcG>gcA p.A81A MYD88_ENST00000443433.2_Silent_p.A81A|MYD88_ENST00000424893.1_Silent_p.A81A|MYD88_ENST00000396334.3_Silent_p.A81A|MYD88_ENST00000495303.1_Silent_p.A81A NM_001172567.1 NP_001166038.1 Q99836 MYD88_HUMAN myeloid differentiation primary response 88 68 Death. 3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane death receptor binding|TIR domain binding|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 237 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGACACAAGCGGACCCCACTG 0.657000 Mis ABC-DLBCL 3 92 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a 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_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|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 45 0 0 1 0 0 TMEM14E 645843 broad.mit.edu 37 3 152058574 152058574 + Silent SNP A A G TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr3:152058574A>G ENST00000408960.3 - 1 205 c.120T>C c.(118-120)tcT>tcC p.S40S MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000485509.1_Intron NM_001123228.1 NP_001116700.1 Q6UXP3 TM14E_HUMAN transmembrane protein 14E 40 integral to membrane lung(1) 1 AGAATCCAGCAGAAGGGGACT 0.488000 21 79 0 0 1 0 0 HAUS4 54930 broad.mit.edu 37 14 23416936 23416936 + Missense_Mutation SNP A A C TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr14:23416936A>C ENST00000206474.7 - 8 965 c.713T>G c.(712-714)cTt>cGt p.L238R HAUS4_ENST00000555367.1_Missense_Mutation_p.L193R|HAUS4_ENST00000347758.2_Missense_Mutation_p.L112R|HAUS4_ENST00000555986.1_Missense_Mutation_p.L193R|HAUS4_ENST00000397409.4_Missense_Mutation_p.L112R|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000342454.8_Missense_Mutation_p.L193R|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.L238R|HAUS4_ENST00000490506.1_Missense_Mutation_p.L114R|RP11-298I3.5_ENST00000555074.1_Silent_p.A67A Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 238 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 GCAGCGGAGAAGCACCTGAGC 0.507000 27 85 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26663556 26663556 + Missense_Mutation SNP T T C TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr11:26663556T>C ENST00000256737.3 + 22 3107 c.2255T>C c.(2254-2256)aTg>aCg p.M752T ANO3_ENST00000531568.1_Missense_Mutation_p.M606T|ANO3_ENST00000525139.1_Missense_Mutation_p.M736T|ANO3_ENST00000537978.1_Missense_Mutation_p.M736T NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 752 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 CATGGACTGATGGATGAGTAC 0.413000 4 105 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20602227 20602227 + Nonsense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr18:20602227G>A ENST00000399725.2 + 17 2910 c.2493G>A c.(2491-2493)tgG>tgA p.W831* RBBP8_ENST00000327155.5_Missense_Mutation_p.E864K|RBBP8_ENST00000581687.1_Missense_Mutation_p.E42K|RBBP8_ENST00000360790.5_Missense_Mutation_p.E869K|RBBP8_ENST00000399722.2_Missense_Mutation_p.E864K NM_203292.1 NP_976037.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 0 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) GACTTGTATGGAAAGAGGTGA 0.418000 Homologous recombination 22 96 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12653552 12653552 + Nonsense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr3:12653552G>A ENST00000251849.4 - 3 656 c.217C>T c.(217-219)Cga>Tga p.R73* RAF1_ENST00000542177.1_Intron|RAF1_ENST00000442415.2_Nonsense_Mutation_p.R73* NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 73 RBD. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) ATTCCATTTCGCACATTGACC 0.498000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 5 109 0 0 1 0 0 TSC22D4 81628 broad.mit.edu 37 7 100064672 100064672 + Silent SNP G G T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr7:100064672G>T ENST00000300181.2 - 5 1852 c.1098C>A c.(1096-1098)cgC>cgA p.R366R TSC22D4_ENST00000496728.1_Intron|TSC22D4_ENST00000393991.1_Silent_p.R127R NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 366 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGCCAGGGCGCGCAGCAGCC 0.697000 4 22 0.150653 0.156931 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 81 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 74 0 0 1 0 0 SLC35A1 10559 broad.mit.edu 37 6 88187186 88187186 + Silent SNP C C G TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr6:88187186C>G ENST00000369552.4 + 2 150 c.123C>G c.(121-123)ctC>ctG p.L41L SLC35A1_ENST00000544441.1_5'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Silent_p.L41L|C6orf165_ENST00000507897.1_3'UTR|SLC35A1_ENST00000369556.3_Silent_p.L41L|SLC35A1_ENST00000464978.1_3'UTR NM_006416.4 NP_006407.1 P78382 S35A1_HUMAN solute carrier family 35 (CMP-sialic acid transporter), member A1 41 carbohydrate metabolic process|protein modification process Golgi membrane|integral to plasma membrane CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0429) ACAAAGAACTCTACTTTTCAA 0.358000 6 114 0 0 1 0 0 FAM217B 63939 broad.mit.edu 37 20 58520040 58520040 + Missense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr20:58520040G>A ENST00000358293.3 + 5 1457 c.1042G>A c.(1042-1044)Gca>Aca p.A348T FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.A348T NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 348 ACAAGCACATGCACATCCTAG 0.458000 15 76 0 0 1 0 0 GNRHR 0 broad.mit.edu 37 4 68606313 68606313 + Nonsense_Mutation SNP C C T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr4:68606313C>T ENST00000226413.4 - 3 896 c.872G>A c.(871-873)tGg>tAg p.W291* RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Silent_p.L248L|RP11-453E17.1_ENST00000502758.1_RNA NM_000406.2 NP_000397.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 291 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) AGGATCAAACCAATACCAAAT 0.403000 17 279 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79383689 79383689 + Missense_Mutation SNP G G C TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr1:79383689G>C ENST00000370742.3 - 11 1571 c.1508C>G c.(1507-1509)gCt>gGt p.A503G NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 503 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) TGCAAAAGCAGCTAAAAAGAA 0.333000 13 102 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41125346 41125346 + Silent SNP G G T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr19:41125346G>T ENST00000308370.7 + 26 3363 c.3363G>T c.(3361-3363)ccG>ccT p.P1121P LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.P1084P|LTBP4_ENST00000396819.3_Silent_p.P1054P|LTBP4_ENST00000545697.1_Silent_p.P489P|LTBP4_ENST00000243562.9_Silent_p.P175P NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1122 Pro-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCAACAGCCCGGAAGAGTTTG 0.532000 3 67 1 1 1 1 0 PIK3R1 5295 broad.mit.edu 37 5 67589138 67589138 + Missense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr5:67589138G>A ENST00000521381.1 + 10 1742 c.1126G>A c.(1126-1128)Gga>Aga p.G376R PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 376 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.G376R(5)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAGGAAAGGGGGAAATAACAA 0.308000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 9 60 0 0 1 0 0 RFT1 91869 broad.mit.edu 37 3 53126463 53126463 + Silent SNP C C T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr3:53126463C>T ENST00000296292.3 - 12 1441 c.1380G>A c.(1378-1380)agG>agA p.R460R RP11-894J14.5_ENST00000607203.1_Intron|RFT1_ENST00000394738.3_Silent_p.R421R NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 460 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) CAGCCAGGGGCCTGTGGGGGC 0.592000 6 10 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 27 88 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88835744 88835744 + Missense_Mutation SNP A A C TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr10:88835744A>C ENST00000277865.4 - 3 659 c.563T>G c.(562-564)aTc>aGc p.I188S GLUD1_ENST00000537649.1_Missense_Mutation_p.I21S|GLUD1_ENST00000544149.1_Missense_Mutation_p.I55S NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 188 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) CTTGGGATTGATCTTAACACC 0.353000 22 127 0 0 1 0 0 FUCA2 2519 broad.mit.edu 37 6 143823670 143823670 + Missense_Mutation SNP C C T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr6:143823670C>T ENST00000002165.5 - 4 840 c.785G>A c.(784-786)cGt>cAt p.R262H FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma 262 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) AGCTCCCCAACGATCATTGGT 0.403000 16 121 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41165998 41165998 + Silent SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr6:41165998G>A ENST00000483722.1 - 2 410 c.225C>T c.(223-225)ccC>ccT p.P75P NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 75 Ig-like V-type. T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) GCAAGTAGCGGGGCCCTTTCA 0.572000 11 177 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230723871 230723871 + Missense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr2:230723871G>A ENST00000283943.5 - 3 696 c.518C>T c.(517-519)gCg>gTg p.A173V TRIP12_ENST00000543084.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A215V NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 173 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GGTAGGTTTCGCAGATCTCTC 0.507000 17 45 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023092 76023092 + Missense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr6:76023092G>A ENST00000393004.2 - 5 2677 c.2456C>T c.(2455-2457)aCg>aTg p.T819M FILIP1_ENST00000370020.1_Missense_Mutation_p.T720M|FILIP1_ENST00000237172.7_Missense_Mutation_p.T819M|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 819 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TACAGCTGGCGTTTCTTCCTC 0.463000 9 288 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187173195 187173195 + Missense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr4:187173195G>A ENST00000264690.6 + 11 1356 c.1169G>A c.(1168-1170)cGc>cAc p.R390H KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 390 blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity p.R390H(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) ACAAGCACACGCATTGTTGGA 0.502000 5 131 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230343 21230343 + Missense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr2:21230343G>A ENST00000233242.1 - 26 9524 c.9397C>T c.(9397-9399)Cct>Tct p.P3133S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3133 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CGCATTTCAGGAATTGTTAAA 0.373000 34 119 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15978996 15978996 + Silent SNP C C T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr17:15978996C>T ENST00000268712.3 - 27 3779 c.3522G>A c.(3520-3522)caG>caA p.Q1174Q NCOR1_ENST00000395851.1_Silent_p.Q1190Q|NCOR1_ENST00000395857.3_Intron NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1174 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTATGCCAGTCTGGGGCAGAG 0.493000 5 114 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79748620 79748620 + Missense_Mutation SNP C C A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr15:79748620C>A ENST00000305428.3 + 2 206 c.131C>A c.(130-132)gCc>gAc p.A44D NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 44 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 TCGCAGCTTGCCAAACTGAGA 0.468000 34 104 4.32679e-17 4.80755e-17 1 1 0 COQ3 51805 broad.mit.edu 37 6 99817516 99817516 + Missense_Mutation SNP G G A TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr6:99817516G>A ENST00000254759.3 - 7 1094 c.1070C>T c.(1069-1071)gCc>gTc p.A357V COQ3_ENST00000369242.1_Missense_Mutation_p.A129V|COQ3_ENST00000369240.1_Missense_Mutation_p.A129V NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 357 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) ATTGGTGCAGGCATTAGCTTG 0.403000 42 182 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13679124 13679124 + Missense_Mutation SNP C C T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr3:13679124C>T ENST00000404922.3 + 18 3520 c.3401C>T c.(3400-3402)aCg>aTg p.T1134M FBLN2_ENST00000492059.1_Missense_Mutation_p.T1134M|FBLN2_ENST00000535798.1_Missense_Mutation_p.T1113M|FBLN2_ENST00000295760.7_Missense_Mutation_p.T1087M NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 1087 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GCGCGCATCACGCACTACCAG 0.657000 7 81 0 0 1 0 0 PDP2 57546 broad.mit.edu 37 16 66919405 66919405 + Silent SNP C C T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr16:66919405C>T ENST00000311765.2 + 2 1552 c.1218C>T c.(1216-1218)ttC>ttT p.F406F PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 406 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) AGGATAAGTTCCTTGTGCTGG 0.567000 38 94 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15523366 15523366 + Silent SNP T T C TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr2:15523366T>C ENST00000281513.5 - 29 3358 c.3333A>G c.(3331-3333)acA>acG p.T1111T NBAS_ENST00000441750.1_Silent_p.T991T NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1111 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AATCTAGACATGTGTATACAT 0.348000 30 90 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127572530 127572530 + Missense_Mutation SNP T T C TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr9:127572530T>C ENST00000373580.3 + 8 1798 c.1798T>C c.(1798-1800)Tac>Cac p.Y600H OLFML2A_ENST00000288815.5_Missense_Mutation_p.Y386H NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 600 Olfactomedin-like. endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 CCAGGTCGCCTACGCTTTCGA 0.637000 19 59 0 0 1 0 0 H3F3C 440093 broad.mit.edu 37 12 31944718 31944718 + Missense_Mutation SNP C C T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr12:31944718C>T ENST00000340398.3 - 1 457 c.383G>A c.(382-384)cGc>cAc p.R128H NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 128 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 CCGTATCCGGCGAGCCAACTG 0.443000 HNSCC(67;0.2) 27 151 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144814702 144814702 + Missense_Mutation SNP G G T rs145249789 by1000genomes TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr1:144814702G>T ENST00000440491.2 + 3 340 c.340G>T c.(340-342)Gct>Tct p.A114S NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 CCTGGTTCACGCTCAGGAACG 0.493000 5 185 0.0215528 0.0229285 1 1 0 FCN1 2219 broad.mit.edu 37 9 137804960 137804960 + Silent SNP G G T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr9:137804960G>T ENST00000371806.3 - 6 461 c.370C>A c.(370-372)Cgg>Agg p.R124R NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 124 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) AAATACCCCCGGTCTAGCAGG 0.682000 3 44 1 1 1 1 0 IL1RL2 8808 broad.mit.edu 37 2 102808543 102808543 + Missense_Mutation SNP C C T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr2:102808543C>T ENST00000264257.2 + 4 578 c.452C>T c.(451-453)cCg>cTg p.P151L IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P151L|IL1RL2_ENST00000481806.1_Intron NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 151 Ig-like C2-type 2. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity p.P151Q(1) breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 CTGCACTTCCCGAAGAGTTGT 0.328000 3 78 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36359738 36359739 + Frame_Shift_Del DEL CT CT - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr1:36359738_36359739delCT ENST00000373204.4 + 6 963_964 c.750_751delCT c.(748-753)gactfs p.DS250fs AGO1_ENST00000373206.1_Frame_Shift_Del_p.DS175fs NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 CCCTCACGGACTCTCAGCGCGT 0.550 11 49 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 3 4 --- --- --- --- FUBP1 8880 broad.mit.edu 37 1 78422330 78422331 + Frame_Shift_Del DEL AT AT - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr1:78422330_78422331delAT ENST00000370767.1 - 17 1718_1719 c.1631_1632delAT c.(1630-1632)tfs p.Y545fs FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y566fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y545fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 545 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GCTGTTGATAATAGTGAGCGTA 0.431 """F, N""" oligodendroglioma 36 74 --- --- --- --- CFH 3075 broad.mit.edu 37 1 196694339 196694341 + In_Frame_Del DEL CTC CTC - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr1:196694339_196694341delCTC ENST00000367429.4 + 12 2025_2027 c.1785_1787delCTC c.(1783-1788)ttc>tt p.FS595del NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 595 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGTTGAAATTCTCCTGCAAACCA 0.394 24 99 --- --- --- --- PTCD3 55037 broad.mit.edu 37 2 86355071 86355074 + Frame_Shift_Del DEL GCTT GCTT - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr2:86355071_86355074delGCTT ENST00000254630.7 + 14 1170_1173 c.1104_1107delGCTT c.(1102-1107)tcfs p.SL368fs NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 368 mitochondrion protein binding NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 GAGAACCCTCGCTTGCAACATATC 0.333 23 189 --- --- --- --- ACTL6A 86 broad.mit.edu 37 3 179301185 179301186 + Frame_Shift_Del DEL AC AC - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr3:179301185_179301186delAC ENST00000429709.2 + 12 1284_1285 c.1071_1072delAC c.(1069-1074)atagfs p.IQ357fs ACTL6A_ENST00000392662.1_Frame_Shift_Del_p.IQ315fs|ACTL6A_ENST00000450518.2_Frame_Shift_Del_p.IQ315fs NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 357 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) ACACACTAATACAGAGTTTTAC 0.347 16 298 --- --- --- --- ANKRD17 26057 broad.mit.edu 37 4 73963819 73963820 + Frame_Shift_Del DEL TC TC - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr4:73963819_73963820delTC ENST00000358602.4 - 26 5107_5108 c.4991_4992delGA c.(4990-4992)afs p.R1664fs ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.R1413fs|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.R1551fs NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1664 Ser-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAACAGATTTTCTCTCTTCCTT 0.361 34 183 --- --- --- --- DST 667 broad.mit.edu 37 6 56472643 56472645 + In_Frame_Del DEL AAG AAG - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr6:56472643_56472645delAAG ENST00000370754.5 - 39 6681_6683 c.6682_6684delCTT c.(6682-6684)del p.L2228del DST_ENST00000370769.4_In_Frame_Del_p.L2050del|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_In_Frame_Del_p.L1724del|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_In_Frame_Del_p.L2050del|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_In_Frame_Del_p.L2050del Q03001 DYST_HUMAN dystonin 2050 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AAGCATTATTAAGAAATACACCA 0.404 53 167 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114270202 114270203 + Frame_Shift_Del DEL TG TG - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr6:114270202_114270203delTG ENST00000519065.1 - 8 1157_1158 c.781_782delCA c.(781-783)gfs p.Q261fs HDAC2_ENST00000368632.2_Frame_Shift_Del_p.Q231fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.Q355fs|HDAC2_ENST00000519108.1_Frame_Shift_Del_p.Q231fs Q92769 HDAC2_HUMAN histone deacetylase 2 261 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding p.Q261P(1) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) TGCACCACACTGTAATACCACA 0.371 7 322 --- --- --- --- NEUROD6 63974 broad.mit.edu 37 7 31378576 31378577 + Frame_Shift_Del DEL CG CG - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr7:31378576_31378577delCG ENST00000297142.3 - 2 628_629 c.306_307delCG c.(304-309)cgagfs p.RE102fs NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 102 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CTGTTCCTCTCGCGCGCGTTCG 0.470 8 316 --- --- --- --- CLIP2 7461 broad.mit.edu 37 7 73795186 73795187 + Frame_Shift_Del DEL TG TG - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr7:73795186_73795187delTG ENST00000223398.6 + 11 2799_2800 c.2472_2473delTG c.(2470-2475)actgfs p.TV824fs CLIP2_ENST00000361545.5_Frame_Shift_Del_p.TV789fs|CLIP2_ENST00000395060.1_Frame_Shift_Del_p.TV824fs NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 824 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 CGAAGGAAACTGTGGAGGGTGA 0.579 63 199 --- --- --- --- OTUB1 55611 broad.mit.edu 37 11 63764577 63764579 + In_Frame_Del DEL CCT CCT - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr11:63764577_63764579delCCT ENST00000541478.1 + 3 636_638 c.176_178delCCT c.(175-180)gcc>g p.AS59del OTUB1_ENST00000538426.1_In_Frame_Del_p.AS160del|OTUB1_ENST00000422031.2_In_Frame_Del_p.AS197del|OTUB1_ENST00000428192.2_In_Frame_Del_p.AS160del|OTUB1_ENST00000535715.1_In_Frame_Del_p.AS160del|OTUB1_ENST00000543988.1_In_Frame_Del_p.AS130del|OTUB1_ENST00000543004.1_In_Frame_Del_p.AS169del Q96FW1 OTUB1_HUMAN OTU domain, ubiquitin aldehyde binding 1 160 protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 GACCTGCTGGCCTCCTTCAATGA 0.591 50 258 --- --- --- --- CREBZF 58487 broad.mit.edu 37 11 85375242 85375244 + In_Frame_Del DEL CTT CTT - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr11:85375242_85375244delCTT ENST00000527447.1 - 1 902_904 c.676_678delAAG c.(676-678)del p.K226del CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 226 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K226delK(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) TCACGTACTCCTTCTTCTTCAGT 0.665 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 219 --- --- --- --- SIN3A 25942 broad.mit.edu 37 15 75682071 75682090 + Frame_Shift_Del DEL ATCTTCATACTGTGATGAGT ATCTTCATACTGTGATGAGT - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr15:75682071_75682090delATCTTCATACTGTGATGAGT ENST00000394947.3 - 16 3238_3257 c.2924_2943delACTCATCACAGTATGAAGAT c.(2923-2943)gfs p.DSSQYED975fs SIN3A_ENST00000360439.4_Frame_Shift_Del_p.DSSQYED975fs|SIN3A_ENST00000394949.4_Frame_Shift_Del_p.DSSQYED975fs NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 975 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CTCTCAGTGAATCTTCATACTGTGATGAGTCTATGTTGCC 0.491 10 188 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42793443 42793444 + Frame_Shift_Ins INS - - C TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr19:42793443_42793444insC ENST00000572681.2 + 9 4040_4041 c.3972_3973insC c.(3970-3975)cgccccfs p.RP1324fs CIC_ENST00000575354.2_Frame_Shift_Ins_p.RP415fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.RP415fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCACTGGGCGGCCCCCGCTGCT 0.644 """Mis, F, S""" oligodendroglioma 14 45 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3891325 3891328 + Frame_Shift_Del DEL TTAC TTAC - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr20:3891325_3891328delTTAC ENST00000497424.1 + 3 521_524 c.210_213delTTAC c.(208-213)tafs p.YY70fs PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.YY361fs NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 361 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CACAGTGCTATTACTTTGAAAACC 0.402 11 155 --- --- --- --- RP5-963E22.4 0 broad.mit.edu 37 20 61798880 61798881 + RNA INS - - C TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr20:61798880_61798881insC ENST00000423020.1 - 0 188 ccccacctcagcccctcctcag 0.703 6 13 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx d44bae99-4be5-4d02-a261-f341afb1ebff 83cb6500-9764-4d02-b833-e3c72c7d880a g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 8 164 --- --- --- ---