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 LRRC41 10489 broad.mit.edu 37 1 46752046 46752046 + Silent SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr1:46752046G>A ENST00000343304.6 - 4 768 c.483C>T c.(481-483)tcC>tcT p.S161S LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 161 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) GGACATGGCGGGAGCTGTGCA 0.567000 3 45 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153222852 153222852 + Missense_Mutation SNP C C A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chrX:153222852C>A ENST00000310441.7 - 13 3232 c.2266G>T c.(2266-2268)Gtc>Ttc p.V756F HCFC1_ENST00000369984.4_Missense_Mutation_p.V756F|HCFC1_ENST00000354233.3_Missense_Mutation_p.V687F NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 756 Interaction with ZBTB17. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGGGGGAGACGCTGCTGATG 0.652000 97 204 3.17287e-45 3.47993e-45 1 1 0 AVPR1A 0 broad.mit.edu 37 12 63543874 63543874 + Missense_Mutation SNP C C T TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr12:63543874C>T ENST00000299178.2 - 1 848 c.743G>A c.(742-744)cGc>cAc p.R248H NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 248 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CGTCTTCCCGCGGACGTTGCA 0.622000 79 140 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400909 89400909 + Missense_Mutation SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr15:89400909G>A ENST00000439576.2 + 12 5467 c.5093G>A c.(5092-5094)aGt>aAt p.S1698N ACAN_ENST00000352105.7_Missense_Mutation_p.S1698N|ACAN_ENST00000559004.1_Missense_Mutation_p.S1698N|ACAN_ENST00000561243.1_Missense_Mutation_p.S1698N NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1698 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGCCCTCCAGTGAGCTGGAC 0.537000 52 191 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59630180 59630180 + Missense_Mutation SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr11:59630180G>A ENST00000257264.3 - 3 379 c.275C>T c.(274-276)tCg>tTg p.S92L TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 92 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGCTCTCCCGAGCTTACATC 0.388000 33 59 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7232039 7232039 + Missense_Mutation SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr6:7232039G>A ENST00000379938.2 + 10 4244 c.3707G>A c.(3706-3708)cGg>cAg p.R1236Q RREB1_ENST00000334984.6_Missense_Mutation_p.R1236Q|RREB1_ENST00000349384.6_Missense_Mutation_p.R1236Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R1236Q NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1236 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGGGCCAAGCGGAACTCGTAC 0.612000 24 49 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64547306 64547306 + Missense_Mutation SNP C C A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr3:64547306C>A ENST00000498707.1 - 30 4988 c.4646G>T c.(4645-4647)tGc>tTc p.C1549F ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1521F NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1549 TSP type-1 12. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGGGCCTTGGCAGTCGCGTTC 0.577000 38 96 2.75727e-19 2.9296e-19 1 1 0 CASC3 22794 broad.mit.edu 37 17 38324149 38324149 + Silent SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr17:38324149G>A ENST00000264645.7 + 10 1924 c.1698G>A c.(1696-1698)ccG>ccA p.P566P NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 566 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 GCCCTGCCCCGCTGCCTCCAC 0.502000 80 130 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39798830 39798830 + Missense_Mutation SNP A A T TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr20:39798830A>T ENST00000373272.2 + 24 3134 c.2729A>T c.(2728-2730)gAt>gTt p.D910V PLCG1_ENST00000244007.3_Missense_Mutation_p.D910V|PLCG1_ENST00000373271.1_Missense_Mutation_p.D910V NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 910 PH 2; second part. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) TGGTCCCTGGATGTTGCTGCC 0.592000 4 155 0 0 1 0 0 SATL1 340562 broad.mit.edu 37 X 84362660 84362660 + Nonsense_Mutation SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chrX:84362660G>A ENST00000509231.1 - 1 1394 c.1315C>T c.(1315-1317)Cga>Tga p.R439* SATL1_ENST00000395409.3_Nonsense_Mutation_p.R252*|SATL1_ENST00000332921.5_Nonsense_Mutation_p.R252* Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 252 Acetyl-CoA binding (By similarity).|N-acetyltransferase. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 CACATGCCTCGTTGCCACATG 0.552000 9 220 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659809 24659809 + RNA SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr22:24659809G>A ENST00000414583.2 + 0 3334 NR_003714.1 CCCTATCTGCGCACCCGGAGG 0.612000 3 9 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 5 48 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 17 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 3 29 1 1 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102304869 102304869 + RNA SNP T T C rs139457262 by1000genomes TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr15:102304869T>C ENST00000561463.1 + 0 12915 GTCCAACCTGTACTCGCGTGG 0.572000 3 26 0 0 1 0 0 FZR1 51343 broad.mit.edu 37 19 3527700 3527700 + Missense_Mutation SNP C C T TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr19:3527700C>T ENST00000441788.2 + 7 778 c.542C>T c.(541-543)gCg>gTg p.A181V FZR1_ENST00000395095.3_Missense_Mutation_p.A181V|FZR1_ENST00000313639.8_Intron NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 181 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCTGGACGCGCCCGAGCTG 0.637000 14 32 0 0 1 0 0 MAGOHB 55110 broad.mit.edu 37 12 10763280 10763280 + Splice_Site SNP C C A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr12:10763280C>A ENST00000320756.2 - 2 185 c.e2-1 MAGOHB_ENST00000381881.2_Splice_Site|MAGOHB_ENST00000539554.1_Splice_Site NM_018048.3 NP_060518.1 Q96A72 MGN2_HUMAN mago-nashi homolog B (Drosophila) mRNA processing|mRNA transport|RNA splicing nucleus RNA binding breast(2)|large_intestine(2) 4 CTAAGCTTTCCTGTGGGAAGT 0.259000 3 26 1 1 1 1 0 OR2Y1 134083 broad.mit.edu 37 5 180166535 180166535 + Missense_Mutation SNP T T A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr5:180166535T>A ENST00000307832.2 - 1 564 c.524A>T c.(523-525)cAc>cTc p.H175L NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAGAAGAAGTGATTCAGTCG 0.542000 5 53 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 4 79 0 0 1 0 0 SLC39A14 23516 broad.mit.edu 37 8 22273317 22273317 + Silent SNP G G A rs140196421 TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr8:22273317G>A ENST00000381237.1 + 6 905 c.786G>A c.(784-786)tcG>tcA p.S262S SLC39A14_ENST00000240095.6_Silent_p.S262S|SLC39A14_ENST00000359741.5_Silent_p.S262S|SLC39A14_ENST00000289952.5_Silent_p.S262S NM_001128431.2 NP_001121903.1 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 262 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) CCTCTGAGTCGCTTCCCTCCA 0.552000 7 73 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515257 102515257 + RNA SNP C C T TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr15:102515257C>T ENST00000557932.1 + 0 1103 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 CTCCGGTGGCCGGGCCACTCT 0.647000 4 19 0 0 1 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 3 38 0 0 1 0 0 IFNA21 3452 broad.mit.edu 37 9 21166376 21166376 + Missense_Mutation SNP A A T TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr9:21166376A>T ENST00000380225.1 - 1 283 c.236T>A c.(235-237)gTc>gAc p.V79D NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 79 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTCATGGAGGACAGAGATGGC 0.478000 54 106 0 0 1 0 0 DLK1 8788 broad.mit.edu 37 14 101200588 101200588 + Silent SNP C C T rs140697628 TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr14:101200588C>T ENST00000341267.4 + 5 749 c.507C>T c.(505-507)atC>atT p.I169I DLK1_ENST00000331224.6_Silent_p.I169I NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 169 multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) TCTGCGAGATCGTGGCCAACA 0.667000 5 157 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 5 87 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr22:24659813C>T ENST00000414583.2 + 0 3338 NR_003714.1 ATCTGCGCACCCGGAGGTGGG 0.607000 3 5 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 22 52 0 0 1 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84872264 84872264 + Missense_Mutation SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr16:84872264G>A ENST00000262424.5 + 2 387 c.163G>A c.(163-165)Gac>Aac p.D55N CRISPLD2_ENST00000569090.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000566431.1_3'UTR NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 55 extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 CCCCAGGGAGGACAAGGAGGA 0.617000 43 50 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293478 145293478 + Missense_Mutation SNP C C T TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr1:145293478C>T ENST00000342960.5 + 1 108 c.73C>T c.(73-75)Cgc>Tgc p.R25C RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.R25C NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 25 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CGAGACATTGCGCCCCCAGCT 0.502000 7 874 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7605143 7605143 + Missense_Mutation SNP G G A TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr10:7605143G>A ENST00000256861.6 - 14 2810 c.2732C>T c.(2731-2733)gCc>gTc p.A911V ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V|ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 911 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CAGTTTGGCGGCATTGTTCCT 0.522000 4 178 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 8 125 --- --- --- --- KLF3 51274 broad.mit.edu 37 4 38691475 38691476 + Frame_Shift_Ins INS - - C TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr4:38691475_38691476insC ENST00000261438.5 + 4 975_976 c.670_671insC c.(670-672)cccfs p.P224fs KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 224 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 GAACTCAGTGTCCCCCCCGCAA 0.426 9 242 --- --- --- --- MTBP 27085 broad.mit.edu 37 8 121528321 121528321 + Frame_Shift_Del DEL A A - TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr8:121528321delA ENST00000305949.1 + 18 2181 c.2136delA c.(2134-2136)tcfs p.S712fs NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 712 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TAGTTTCGTCAGATCCTGGAA 0.423 33 93 --- --- --- --- RP11-526D8.7 0 broad.mit.edu 37 9 95647938 95647939 + RNA INS - - G TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr9:95647938_95647939insG ENST00000446878.1 + 0 1217_1218 ANKRD19P_ENST00000473204.1_RNA TTGGGGAATTTGGTTAAATCAC 0.446 22 138 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81052006 81052026 + In_Frame_Del DEL GCAGCAGCGGCAGTGGCAGCA GCAGCAGCGGCAGTGGCAGCA - TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA ENST00000334512.5 + 11 1422_1442 c.850_870delGCAGCAGCGGCAGTGGCAGCA c.(850-870)del p.AAAAVAA284del ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 284 Ala-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) ggcagccgctgcagcagcggcagtggcagcagcagcagcCA 0.652 9 167 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 7 275 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194933 28194934 + In_Frame_Ins INS - - TGC rs34890218 TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chr22:28194933_28194934insTGC ENST00000302326.4 - 1 2552_2553 c.1598_1599insGCA c.(1597-1599)cca>cGCAca p.533_533P>RT NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 533 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgttgctgctgctg 0.653 T ETV6 """AML, meningioma""" 6 8 --- --- --- --- PLXNA3 55558 broad.mit.edu 37 X 153688564 153688565 + Frame_Shift_Ins INS - - G TCGA-QH-A6CU-01A-11D-A31L-08 TCGA-QH-A6CU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cc38bc2-1fc1-491a-af2b-511942996b69 94a2fad7-5e68-405f-9f04-e5c134dac8e0 g.chrX:153688564_153688565insG ENST00000369682.3 + 2 216_217 c.41_42insG c.(40-42)gggfs p.G14fs NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 14 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.A17fs*39(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTCCTTGCCGTGGGGGGGGCCC 0.683 7 155 --- --- --- ---