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 RREB1 6239 broad.mit.edu 37 6 7229727 7229727 + Silent SNP C C T rs138539147 TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr6:7229727C>T ENST00000379938.2 + 10 1932 c.1395C>T c.(1393-1395)atC>atT p.I465I RREB1_ENST00000349384.6_Silent_p.I465I|RREB1_ENST00000334984.6_Silent_p.I465I|RREB1_ENST00000379933.3_Silent_p.I465I NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 465 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) AGTCGGCCATCGAGCTGGCAG 0.602000 26 124 0 0 1 0 0 NKX2-1 7080 broad.mit.edu 37 14 36987036 36987036 + Missense_Mutation SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr14:36987036G>A ENST00000518149.1 - 3 1168 c.563C>T c.(562-564)gCg>gTg p.A188V NKX2-1_ENST00000498187.2_Missense_Mutation_p.A188V|NKX2-1_ENST00000522719.2_Missense_Mutation_p.A188V|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.A218V P43699 NKX21_HUMAN NK2 homeobox 1 188 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) GCGCTCCGGCGCCGACAGGTA 0.647000 A NSCLC 5 19 0 0 1 0 0 C9orf114 51490 broad.mit.edu 37 9 131588889 131588889 + Missense_Mutation SNP T T G TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr9:131588889T>G ENST00000361256.5 - 5 428 c.388A>C c.(388-390)Aca>Cca p.T130P NM_016390.3 NP_057474.2 Q5T280 CI114_HUMAN chromosome 9 open reading frame 114 130 T -> R (in dbSNP:rs6478854). kidney(2)|large_intestine(4)|ovary(1) 7 CCAACTCCTGTGAATTCCCCC 0.592000 5 21 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422168 47422168 + Missense_Mutation SNP T T G TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr19:47422168T>G ENST00000404338.3 + 1 236 c.236T>G c.(235-237)gTt>gGt p.V79G NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 79 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TGGGGAGAAGTTAGCCGCTCC 0.493000 6 49 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33477781 33477781 + Silent SNP T T C TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr2:33477781T>C ENST00000404816.2 + 11 2390 c.2037T>C c.(2035-2037)tgT>tgC p.C679C LTBP1_ENST00000407925.1_Silent_p.C353C|LTBP1_ENST00000390003.4_Silent_p.C353C|LTBP1_ENST00000418533.2_Silent_p.C353C|LTBP1_ENST00000354476.3_Silent_p.C679C|LTBP1_ENST00000404525.1_Silent_p.C353C|LTBP1_ENST00000402934.1_Silent_p.C353C Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 679 TB 2. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AAGGGCCCTGTTACCGACTTG 0.512000 4 107 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242684241 242684241 + Missense_Mutation SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr2:242684241G>A ENST00000321264.4 + 6 1011 c.802G>A c.(802-804)Gtg>Atg p.V268M D2HGDH_ENST00000537090.1_Missense_Mutation_p.V268M|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V134M|D2HGDH_ENST00000342518.6_Missense_Mutation_p.V268M NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 268 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CATCACCACGGTGTCCATCTT 0.597000 27 24 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810517 7810517 + Missense_Mutation SNP T T A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr19:7810517T>A ENST00000315599.7 - 4 657 c.635A>T c.(634-636)cAg>cTg p.Q212L CD209_ENST00000204801.8_Missense_Mutation_p.Q168L|CD209_ENST00000593660.1_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.Q212L|CD209_ENST00000394161.5_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.Q188L|CD209_ENST00000601951.1_Missense_Mutation_p.Q188L|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.Q188L NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 212 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.Q212L(2) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GATCTCCTGCTGCTTAGATTT 0.562000 4 109 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131193 72131193 + Missense_Mutation SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr9:72131193C>T ENST00000265381.4 - 2 1156 c.934G>A c.(934-936)Gac>Aac p.D312N NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 312 Munc-18-1 binding.|Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 ccggggctgtcggggcgaccc 0.766000 3 11 0 0 1 0 0 SMC1A 8243 broad.mit.edu 37 X 53432803 53432803 + Missense_Mutation SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chrX:53432803G>A ENST00000322213.4 - 10 1758 c.1631C>T c.(1630-1632)gCc>gTc p.A544V SMC1A_ENST00000375340.6_Missense_Mutation_p.A310V NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 544 Flexible hinge. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 CACAATAATGGCATCCATGTT 0.502000 22 6 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43763054 43763054 + Nonsense_Mutation SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr19:43763054G>A ENST00000418820.2 - 3 762 c.664C>T c.(664-666)Cga>Tga p.R222* PSG9_ENST00000244293.7_Intron|PSG9_ENST00000270077.3_Nonsense_Mutation_p.R315*|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000443718.3_Nonsense_Mutation_p.R222*|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 222 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CCACCATATCGGTCCCGTATT 0.498000 16 34 0 0 1 0 0 IGHV3-20 0 broad.mit.edu 37 14 106668030 106668030 + RNA SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr14:106668030C>T ENST00000390606.2 - 0 65 AGCCCAAACTCCATGGCGAGT 0.507000 34 130 0 0 1 0 0 AVPR1A 0 broad.mit.edu 37 12 63543965 63543965 + Missense_Mutation SNP T T C TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr12:63543965T>C ENST00000299178.2 - 1 757 c.652A>G c.(652-654)Acc>Gcc p.T218A NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 218 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) GTCATCCAGGTCACGTAGGCA 0.592000 56 95 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179959716 179959716 + Missense_Mutation SNP G G C TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr1:179959716G>C ENST00000367607.3 + 4 613 c.195G>C c.(193-195)aaG>aaC p.K65N NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 65 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TGGATACCAAGAAGTCTTCTA 0.313000 6 12 0 0 1 0 0 TMEM45B 120224 broad.mit.edu 37 11 129725675 129725675 + Missense_Mutation SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr11:129725675C>T ENST00000281441.3 + 4 546 c.458C>T c.(457-459)gCt>gTt p.A153V TMEM45B_ENST00000524567.1_Missense_Mutation_p.A153V NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B 153 integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) CTGCTGTATGCTCTGTTCGGA 0.537000 60 65 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23393534 23393534 + Missense_Mutation SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr14:23393534C>T ENST00000324366.8 - 11 1367 c.1144G>A c.(1144-1146)Gcc>Acc p.A382T PRMT5_ENST00000397440.4_Missense_Mutation_p.A211T|PRMT5_ENST00000397441.2_Missense_Mutation_p.A365T|PRMT5_ENST00000553897.1_Missense_Mutation_p.A338T|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.A276T|PRMT5_ENST00000216350.8_Missense_Mutation_p.A321T NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 382 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) CGCCGGTCGGCCTGCTTGGCT 0.557000 25 82 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1049302 1049302 + Silent SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr19:1049302C>T ENST00000263094.6 + 18 2649 c.2418C>T c.(2416-2418)ggC>ggT p.G806G ABCA7_ENST00000435683.2_Silent_p.G668G|ABCA7_ENST00000433129.1_Silent_p.G806G NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 806 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGTCCTGGCGTCTCCGTTC 0.667000 44 75 0 0 1 0 0 INSL4 3641 broad.mit.edu 37 9 5231539 5231539 + Missense_Mutation SNP C C T rs142741438 byFrequency TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr9:5231539C>T ENST00000239316.4 + 1 121 c.16C>T c.(16-18)Cgg>Tgg p.R6W NM_002195.1 NP_002186.1 Q14641 INSL4_HUMAN insulin-like 4 (placenta) 6 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding endometrium(2)|lung(2)|skin(1)|urinary_tract(1) 6 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) CAGCCTGTTCCGGTCCTATCT 0.542000 9 25 0 0 1 0 0 CENPL 91687 broad.mit.edu 37 1 173776588 173776588 + Silent SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr1:173776588G>A ENST00000356198.2 - 4 522 c.237C>T c.(235-237)ccC>ccT p.P79P CENPL_ENST00000345664.6_Silent_p.P79P|CENPL_ENST00000367710.3_Silent_p.P79P NM_001127181.2 NP_001120653.1 Q8N0S6 CENPL_HUMAN centromere protein L 79 mitotic prometaphase chromosome, centromeric region|cytosol|nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3) 11 ATTTATATAAGGGAGTTAAAC 0.333000 11 69 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11311002 11311002 + Missense_Mutation SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr19:11311002G>A ENST00000294618.7 - 47 6094 c.6083C>T c.(6082-6084)cCc>cTc p.P2028L DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Missense_Mutation_p.P1367L NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 2028 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GGGTGGGGTGGGTGCCATCAG 0.652000 2 3 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 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 37 46 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190554618 190554618 + Missense_Mutation SNP A A T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr2:190554618A>T ENST00000520309.1 + 3 1055 c.967A>T c.(967-969)Att>Ttt p.I323F ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.I323F|ANKAR_ENST00000431575.2_Missense_Mutation_p.I252F|ANKAR_ENST00000438402.2_Missense_Mutation_p.I323F|ANKAR_ENST00000281412.6_Missense_Mutation_p.I87F NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 323 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ATGTTTTCTGATTCCATTTCT 0.284000 20 73 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179456193 179456193 + Missense_Mutation SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr2:179456193C>T ENST00000589042.1 - 304 60483 c.60259G>A c.(60259-60261)Ggt>Agt p.G20087S TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17519S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11214S|TTN_ENST00000591111.1_Missense_Mutation_p.G18446S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11022S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11147S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18446 Fibronectin type-III 45. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCACAAGACCTTCAATTAAT 0.378000 69 107 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28900194 28900194 + Missense_Mutation SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr16:28900194G>A ENST00000395503.4 + 9 1199 c.1015G>A c.(1015-1017)Gta>Ata p.V339I ATP2A1_ENST00000536376.1_Missense_Mutation_p.V214I|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V339I NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 339 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 CTTGCCCTCCGTAGAGACCCT 0.587000 5 172 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245862232 245862232 + Missense_Mutation SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr1:245862232G>A ENST00000366518.4 + 11 5032 c.4928G>A c.(4927-4929)cGc>cAc p.R1643H KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024H Q2KJY2 KI26B_HUMAN kinesin family member 26B 2024 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.R2024H(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CTGGAACACCGCCAGCAGAGG 0.572000 18 31 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43161369 43161369 + Silent SNP T T C TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr5:43161369T>C ENST00000509634.1 + 4 846 c.390T>C c.(388-390)gcT>gcC p.A130A ZNF131_ENST00000505606.2_Silent_p.A130A|ZNF131_ENST00000399534.1_Silent_p.A130A|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Silent_p.A130A|ZNF131_ENST00000306938.4_Silent_p.A130A P52739 ZN131_HUMAN zinc finger protein 131 130 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 AAAACTCAGCTCCCTTAGAGG 0.358000 30 39 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62892257 62892257 + Silent SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr17:62892257G>A ENST00000584306.1 - 3 1649 c.1119C>T c.(1117-1119)gtC>gtT p.V373V RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000319651.5_Silent_p.V373V|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 373 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GAGAAGATTCGACCTCCCTAG 0.522000 8 262 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142626594 142626594 + Missense_Mutation SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr7:142626594C>T ENST00000265310.1 - 4 764 c.416G>A c.(415-417)cGc>cAc p.R139H TRPV5_ENST00000442623.1_Missense_Mutation_p.R139H NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 139 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ACTGGCCCTGCGGGTGAGCAG 0.602000 4 68 0 0 1 0 0 C10orf54 64115 broad.mit.edu 37 10 73521533 73521533 + Silent SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr10:73521533G>A ENST00000394957.3 - 2 391 c.333C>T c.(331-333)caC>caT p.H111H CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 111 Ig-like. integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GAGCCAGGTCGTGGCTGGTGT 0.652000 24 21 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176853605 176853605 + Silent SNP G G A rs144434019 TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr1:176853605G>A ENST00000367654.2 - 19 3133 c.3120C>T c.(3118-3120)caC>caT p.H1040H ASTN1_ENST00000424564.2_Silent_p.H1032H|ASTN1_ENST00000367657.3_Silent_p.H1032H|ASTN1_ENST00000361833.2_Silent_p.H1032H O14525 ASTN1_HUMAN astrotactin 1 1040 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGCTGGGCTCGTGAACCGTGG 0.522000 3 70 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27204221 27204221 + Missense_Mutation SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr3:27204221G>A ENST00000429845.2 - 31 3202 c.2840C>T c.(2839-2841)aCt>aTt p.T947I NEK10_ENST00000357467.2_Missense_Mutation_p.T344I|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383770.3_Missense_Mutation_p.T259I|NEK10_ENST00000295720.6_Missense_Mutation_p.T259I|NEK10_ENST00000383771.4_Missense_Mutation_p.T259I Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 947 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGTTCCTCCAGTGAAGTCCCT 0.353000 10 43 0 0 1 0 0 DNASE2 1777 broad.mit.edu 37 19 12991928 12991928 + Missense_Mutation SNP C C G TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr19:12991928C>G ENST00000222219.3 - 2 217 c.125G>C c.(124-126)gGg>gCg p.G42A DNASE2_ENST00000538460.1_Missense_Mutation_p.G42A|CTD-2265O21.7_ENST00000592400.1_RNA NM_001375.2 NP_001366.1 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal 42 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 CGCCGCCTCCCCGGACCCTCT 0.637000 7 60 0 0 1 0 0 ATP1B4 23439 broad.mit.edu 37 X 119496054 119496054 + Missense_Mutation SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chrX:119496054C>T ENST00000218008.3 + 1 88 c.31C>T c.(31-33)Cca>Tca p.P11S ATP1B4_ENST00000539306.1_Missense_Mutation_p.P11S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.P11S NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 11 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 CAGAAGGGCTCCATCCTTTCC 0.542000 5 111 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78430654 78430654 + Splice_Site SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr1:78430654C>T ENST00000370767.1 - 9 724 c.e9-1 FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 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 CAGCCCGTTCCTGTTACAATC 0.368000 """F, N""" oligodendroglioma 57 15 0 0 1 0 0 ZCRB1 85437 broad.mit.edu 37 12 42711593 42711593 + Missense_Mutation SNP T T G TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr12:42711593T>G ENST00000266529.3 - 4 404 c.221A>C c.(220-222)aAa>aCa p.K74T PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.K33T NM_033114.3 NP_149105.3 Q8TBF4 ZCRB1_HUMAN zinc finger CCHC-type and RNA binding motif 1 74 RRM. mRNA processing nucleoplasm|U12-type spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2) 8 all_cancers(12;0.000348)|Breast(8;0.221) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0689) GCTTACCTGTTTGTTGTTTAT 0.388000 4 73 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630911 74630911 + Splice_Site SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr15:74630911C>T ENST00000358632.4 - 8 1656 c.e8+1 CYP11A1_ENST00000268053.6_Splice_Site|CYP11A1_ENST00000419019.2_Splice_Site NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) GCTTGACTCACATTGATGAGG 0.572000 25 31 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46602870 46602870 + Missense_Mutation SNP T T C TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr12:46602870T>C ENST00000398637.5 - 6 1049 c.355A>G c.(355-357)Ata>Gta p.I119V SLC38A1_ENST00000546893.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000439706.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000552197.1_Missense_Mutation_p.I119V NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 119 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) AGGAGGTTTATTGAATATATA 0.313000 11 62 0 0 1 0 0 LTK 4058 broad.mit.edu 37 15 41801323 41801323 + Silent SNP G G A TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr15:41801323G>A ENST00000263800.6 - 8 1098 c.1002C>T c.(1000-1002)ggC>ggT p.G334G LTK_ENST00000453182.2_Silent_p.G273G|LTK_ENST00000355166.5_Silent_p.G273G|LTK_ENST00000561619.1_Silent_p.G16G NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 334 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CTGAAGCGTCGCCCCCTGGAA 0.557000 TSP Lung(18;0.14) 8 27 0 0 1 0 0 CLSPN 63967 broad.mit.edu 37 1 36230093 36230093 + Missense_Mutation SNP A A G TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr1:36230093A>G ENST00000251195.5 - 3 452 c.356T>C c.(355-357)tTg>tCg p.L119S CLSPN_ENST00000520551.1_Missense_Mutation_p.L119S|CLSPN_ENST00000373220.3_Missense_Mutation_p.L119S|CLSPN_ENST00000318121.3_Missense_Mutation_p.L119S Q9HAW4 CLSPN_HUMAN claspin 119 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTCCTGATACAAAGACTTTTC 0.363000 19 28 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 114 0 0 1 0 0 ARL6IP6 151188 broad.mit.edu 37 2 153575515 153575515 + Missense_Mutation SNP C C G TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr2:153575515C>G ENST00000326446.5 + 1 1088 c.377C>G c.(376-378)gCc>gGc p.A126G NM_152522.5 NP_689735.1 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting protein 6 126 integral to membrane kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 5 TTCCTCCTCGCCATCGCCTAC 0.602000 7 91 0 0 1 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39382395 39382395 + Missense_Mutation SNP C C T TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr22:39382395C>T ENST00000402182.3 + 4 602 c.547C>T c.(547-549)Cgc>Tgc p.R183C APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R183C|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R183C Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 183 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) ATTCCTGCACCGCACGCTAAA 0.498000 23 119 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059508 152059508 + Frame_Shift_Del DEL T T - TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr1:152059508delT ENST00000368806.1 - 3 714 c.650delA c.(649-651)agfs p.K217fs NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 217 calcium ion binding p.K217M(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ACTGCTGGTCTTTTTTGATCC 0.448 20 33 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 2 4 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 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) CCTGTGGCCACAGCAGCAGCAGC 0.631 7 36 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118387360 118387360 + RNA DEL G G - TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr10:118387360delG ENST00000537242.1 + 0 578 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GCAGGAGGCTGGGGGGCCGCG 0.736 2 4 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102745470 102745473 + RNA DEL CAAA CAAA - rs28360358 TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr11:102745470_102745473delCAAA ENST00000532855.1 - 0 199 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TACGTAAaagcaaacaaacaaaca 0.324 3 3 --- --- --- --- AC022596.6 0 broad.mit.edu 37 17 16723088 16723092 + RNA DEL TTTTG TTTTG - TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr17:16723088_16723092delTTTTG ENST00000417510.1 - 0 871 ttttttttttttttgacagggtcta 0.493 2 4 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42794819 42794820 + Frame_Shift_Ins INS - - C TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr19:42794819_42794820insC ENST00000572681.2 + 11 4694_4695 c.4626_4627insC c.(4624-4629)ctccccfs p.LP1542fs CIC_ENST00000575354.2_Frame_Shift_Ins_p.LP633fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.LP633fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 633 Pro-rich. 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) CACTGGTGCTGCCCCCAAACAA 0.688 """Mis, F, S""" oligodendroglioma 10 31 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42796882 42796883 + Frame_Shift_Ins INS - - C TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f873874-9d78-4712-a6e6-c2c13e15016c 4093478e-c54d-4591-8b4a-61929343c9c5 g.chr19:42796882_42796883insC ENST00000572681.2 + 15 6132_6133 c.6064_6065insC c.(6064-6066)cccfs p.P2022fs CIC_ENST00000575354.2_Frame_Shift_Ins_p.P1114fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P1113fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.S1117fs*34(1) 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) GCCATCCCAGGCCCCCCCAAGC 0.683 """Mis, F, S""" oligodendroglioma 10 43 --- --- --- ---