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 TNPO2 30000 broad.mit.edu 37 19 12830080 12830080 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr19:12830080G>A ENST00000425528.1 - 4 527 c.170C>T c.(169-171)tCa>tTa p.S57L TNPO2_ENST00000592287.1_Missense_Mutation_p.S57L|TNPO2_ENST00000356861.5_Missense_Mutation_p.S57L|TNPO2_ENST00000441499.1_Missense_Mutation_p.S57L|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.S57L|TNPO2_ENST00000588216.1_Missense_Mutation_p.S57L O14787 TNPO2_HUMAN transportin 2 57 Importin N-terminal. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGTACCTTCTGACTTGAGTCT 0.542000 13 30 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119942926 119942926 + Missense_Mutation SNP G G A rs146647643 byFrequency TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr12:119942926G>A ENST00000327554.2 + 7 1166 c.701G>A c.(700-702)cGg>cAg p.R234Q RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 234 p.R234Q(1) endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AAACCAAGCCGGCGAGGCTCC 0.547000 57 107 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 6 174 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80667072 80667072 + Silent SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr16:80667072C>T ENST00000299564.8 - 3 833 c.678G>A c.(676-678)gcG>gcA p.A226A CDYL2_ENST00000562812.1_Silent_p.A227A|CDYL2_ENST00000566173.1_Silent_p.A227A|CDYL2_ENST00000563890.1_Silent_p.A227A NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 226 nucleus catalytic activity|protein binding p.A226A(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 AGTCCTTCTCCGCTTCCAGCT 0.488000 46 87 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 5 116 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 93 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 6 106 0 0 1 0 0 TXNRD1 7296 broad.mit.edu 37 12 104713352 104713352 + Silent SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr12:104713352C>T ENST00000526691.1 + 7 1140 c.684C>T c.(682-684)taC>taT p.Y228Y TXNRD1_ENST00000526390.1_Silent_p.Y220Y|TXNRD1_ENST00000525566.1_Silent_p.Y326Y|TXNRD1_ENST00000388854.3_Silent_p.Y228Y|TXNRD1_ENST00000524698.1_Silent_p.Y176Y|TXNRD1_ENST00000503506.2_Silent_p.Y176Y|TXNRD1_ENST00000427956.1_Silent_p.Y291Y|TXNRD1_ENST00000397736.2_Silent_p.Y220Y|TXNRD1_ENST00000354940.6_Silent_p.Y176Y|TXNRD1_ENST00000378070.4_Silent_p.Y275Y|TXNRD1_ENST00000429002.2_Silent_p.Y326Y|TXNRD1_ENST00000542918.1_Silent_p.Y226Y|TXNRD1_ENST00000540716.1_Silent_p.Y138Y|TXNRD1_ENST00000529546.1_Silent_p.Y138Y|TXNRD1_ENST00000526950.1_Silent_p.Y245Y NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 326 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 ACAAAGAATACTGCATCAGCA 0.398000 3 9 0 0 1 0 0 HAPLN4 404037 broad.mit.edu 37 19 19371680 19371680 + Missense_Mutation SNP C C A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr19:19371680C>A ENST00000291481.7 - 3 489 c.426G>T c.(424-426)gaG>gaT p.E142D AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 142 Ig-like C2-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) TGACTTCGCACTCATAGCGCC 0.622000 33 36 9.65021e-13 1.00698e-12 1 1 0 RAD50 10111 broad.mit.edu 37 5 131931305 131931305 + Silent SNP T T A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr5:131931305T>A ENST00000378823.3 + 13 2411 c.1593T>A c.(1591-1593)atT>atA p.I531I RAD50_ENST00000265335.6_Silent_p.I670I NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 670 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCCAGTTCATTACTCAGCTAA 0.388000 Homologous recombination 51 77 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196645148 196645148 + Missense_Mutation SNP G G A rs121913058 TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr1:196645148G>A ENST00000367429.4 + 4 620 c.380G>A c.(379-381)cGt>cAt p.R127H CFH_ENST00000439155.2_Missense_Mutation_p.R127H|CFH_ENST00000359637.2_Missense_Mutation_p.R127H NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 127 Sushi 2. R -> L (in CFH deficiency; with membranoproliferative glomerulonephritis). 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 ATTAATTACCGTGAATGTGAC 0.308000 38 53 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154309900 154309900 + Missense_Mutation SNP G G T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr1:154309900G>T ENST00000368489.3 + 12 1013 c.1013G>T c.(1012-1014)cGt>cTt p.R338L ATP8B2_ENST00000341822.2_Missense_Mutation_p.R324L|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R305L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 324 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.R338H(1) IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTGGGGATGCGTTTCCAGGTC 0.552000 89 123 3.28864e-39 3.50788e-39 1 1 0 LSM11 134353 broad.mit.edu 37 5 157182115 157182115 + Missense_Mutation SNP T T A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr5:157182115T>A ENST00000286307.5 + 4 982 c.926T>A c.(925-927)gTg>gAg p.V309E NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 309 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCTCCAGTGTGGGAGGTACC 0.572000 38 50 0 0 1 0 0 PAIP1 10605 broad.mit.edu 37 5 43535001 43535001 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr5:43535001G>A ENST00000306846.3 - 8 1383 c.1151C>T c.(1150-1152)tCa>tTa p.S384L PAIP1_ENST00000436644.2_Missense_Mutation_p.S305L|PAIP1_ENST00000514514.1_Missense_Mutation_p.S305L|PAIP1_ENST00000338972.4_Missense_Mutation_p.S272L NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 384 mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) TCTATATGTTGAAGTTGCATG 0.368000 6 51 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125769796 125769796 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr10:125769796G>A ENST00000346248.5 - 8 2197 c.1555C>T c.(1555-1557)Cgt>Tgt p.R519C CHST15_ENST00000435907.1_Missense_Mutation_p.R519C NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 519 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 TCCTCGGGACGCCGTGCATTG 0.587000 15 14 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 3 42 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29855976 29855976 + Missense_Mutation SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr13:29855976C>T ENST00000431530.3 + 4 2868 c.2810C>T c.(2809-2811)gCg>gTg p.A937V NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 927 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TTACTTCCAGCGCCAAAATCC 0.557000 8 105 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142764556 142764556 + Silent SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr6:142764556C>T ENST00000367609.3 + 25 4058 c.3657C>T c.(3655-3657)gtC>gtT p.V1219V GPR126_ENST00000230173.6_3'UTR|GPR126_ENST00000367608.2_Silent_p.V1191V|GPR126_ENST00000296932.8_3'UTR NM_198569.2 NP_940971.1 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TCCATCAGGTCATTGATAAGG 0.403000 8 86 0 0 1 0 0 PCID2 55795 broad.mit.edu 37 13 113834493 113834493 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr13:113834493G>A ENST00000375457.2 - 11 1429 c.833C>T c.(832-834)gCg>gTg p.A278V PCID2_ENST00000375477.1_Missense_Mutation_p.A280V|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000351317.3_Missense_Mutation_p.A257V|PCID2_ENST00000375479.2_Missense_Mutation_p.A280V|PCID2_ENST00000246505.5_Missense_Mutation_p.A334V|PCID2_ENST00000375459.1_Missense_Mutation_p.A278V|PCID2_ENST00000337344.4_Missense_Mutation_p.A280V NM_001258213.1 NP_001245142.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 280 PCI. negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding p.A334V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) GGTTACTTCCGCAAACTGCAT 0.433000 4 93 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065705 55065705 + RNA SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr11:55065705G>A ENST00000526016.1 - 0 3 NR_038174.2 GATGGGACAGGTGAGTTCCCT 0.483000 4 49 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) 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) atcaaagaaggaaagaagaag 0.423000 4 75 0 0 1 0 0 NCDN 23154 broad.mit.edu 37 1 36030915 36030915 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr1:36030915G>A ENST00000373243.2 + 7 2224 c.1841G>A c.(1840-1842)gGc>gAc p.G614D NCDN_ENST00000373253.3_Missense_Mutation_p.G597D|NCDN_ENST00000356090.4_Missense_Mutation_p.G614D NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 614 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCCACCCCGGGCTCAGACCAG 0.637000 6 73 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501827 12501827 + Missense_Mutation SNP G G T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr19:12501827G>T ENST00000419318.1 - 4 2038 c.1289C>A c.(1288-1290)tCc>tAc p.S430Y CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.S462Y Q96GE5 ZN799_HUMAN zinc finger protein 799 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 ATTTTGAAAGGAATAGAAATC 0.388000 6 125 3.59834e-05 3.6749e-05 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 109 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900045 151900045 + Silent SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chrX:151900045C>T ENST00000393900.3 - 3 1109 c.756G>A c.(754-756)caG>caA p.Q252Q MAGEA12_ENST00000357916.4_Silent_p.Q252Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.Q252Q NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 252 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGTAGTTTTCCTGCACCAAAT 0.557000 120 48 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141053009 141053009 + Nonsense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr5:141053009G>A ENST00000239440.4 - 6 996 c.931C>T c.(931-933)Cag>Tag p.Q311* ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q233* NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 311 PH 1. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCATTGAACTGCACAAAGCGT 0.547000 24 43 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E 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 3 57 0 0 1 0 0 CSH2 1443 broad.mit.edu 37 17 61950686 61950686 + Silent SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr17:61950686G>A ENST00000336844.5 - 2 175 c.24C>T c.(22-24)tcC>tcT p.S8S CSH2_ENST00000392886.2_Silent_p.S8S|CSH2_ENST00000345366.7_Silent_p.S8S|CSH2_ENST00000560142.1_Silent_p.S8S NM_022644.3 NP_072170.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 8 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 CCAGGAGCAGGGACGTCCGGG 0.607000 15 67 0 0 1 0 0 EDN1 1906 broad.mit.edu 37 6 12290895 12290895 + Silent SNP G G T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr6:12290895G>T ENST00000379375.5 + 1 300 c.33G>T c.(31-33)ctG>ctT p.L11L NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 11 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) TCTCTCTGCTGTTTGTGGCTT 0.418000 OREG0017197 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 45 0.115264 0.115264 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S 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 3 55 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401091 11401091 + Missense_Mutation SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr4:11401091C>T ENST00000002596.5 - 2 1713 c.539G>A c.(538-540)cGc>cAc p.R180H NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 180 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 CCTGCCATCGCGCACCAGGAA 0.592000 40 53 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983244 97983244 + Missense_Mutation SNP G G C TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr3:97983244G>C ENST00000383696.2 + 1 157 c.116G>C c.(115-117)tGt>tCt p.C39S RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C39Y(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CAACCTGACTGTAAAATACCG 0.413000 6 135 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382519 152382519 + Missense_Mutation SNP T T C TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr1:152382519T>C ENST00000271835.3 - 3 1101 c.1039A>G c.(1039-1041)Act>Gct p.T347A RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 347 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTATCTGAGTGTGTCCTCCT 0.592000 4 234 0 0 1 0 0 MRPL16 54948 broad.mit.edu 37 11 59575194 59575194 + Missense_Mutation SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr11:59575194C>T ENST00000300151.4 - 3 463 c.250G>A c.(250-252)Gaa>Aaa p.E84K NM_017840.3 NP_060310.1 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 84 rRNA binding central_nervous_system(1)|endometrium(1)|liver(1)|lung(8) 11 AAATTGCCTTCTGTAAACTCC 0.398000 4 214 0 0 1 0 0 SHB 6461 broad.mit.edu 37 9 37974712 37974712 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr9:37974712G>A ENST00000377707.3 - 3 1526 c.961C>T c.(961-963)Cgg>Tgg p.R321W RP11-613M10.9_ENST00000540557.1_3'UTR NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 321 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TTGCTCTCCCGCAGTCGGGGG 0.597000 46 71 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20331047 20331047 + Missense_Mutation SNP A A G TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr16:20331047A>G ENST00000302555.5 - 6 1051 c.902T>C c.(901-903)gTc>gCc p.V301A GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000381362.4_Missense_Mutation_p.V304A|GP2_ENST00000341642.5_Missense_Mutation_p.V154A P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 304 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GAAATCATTGACCAAGGAGAG 0.423000 69 113 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 4 87 0 0 1 0 0 LOC403323 403323 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 2 4 --- --- --- --- PTGDR2 11251 broad.mit.edu 37 11 60620167 60620169 + In_Frame_Del DEL GCG GCG - TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr11:60620167_60620169delGCG ENST00000332539.4 - 2 1138_1140 c.1027_1029delCGC c.(1027-1029)del p.R343del NM_004778.2 NP_004769.2 Q9Y5Y4 GPR44_HUMAN prostaglandin D2 receptor 2 343 immune response integral to plasma membrane N-formyl peptide receptor activity TGGAGGAGGTGCGGCGGCGGCGG 0.749 3 6 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)del p.L591del SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 9 123 --- --- --- --- NOX5 79400 broad.mit.edu 37 15 69328208 69328210 + In_Frame_Del DEL CTG CTG - TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr15:69328208_69328210delCTG ENST00000260364.5 + 8 1367_1369 c.1066_1068delCTG c.(1066-1068)del p.L362del NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 380 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 AGGTGTCGCTCTGCTGCTGCTGC 0.626 7 354 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 3 3 --- --- --- --- SLC46A1 113235 broad.mit.edu 37 17 26732355 26732355 + Frame_Shift_Del DEL G G - TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr17:26732355delG ENST00000440501.1 - 2 455 c.360delC c.(358-360)gcfs p.A120fs CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Frame_Shift_Del_p.A120fs|SLC46A1_ENST00000584729.1_5'UTR NM_080669.4 NP_542400.2 Q96NT5 PCFT_HUMAN solute carrier family 46 (folate transporter), member 1 120 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) GGCCCAGCGAGGCCAGCACTA 0.652 2 4 --- --- --- --- SYT5 6861 broad.mit.edu 37 19 55689729 55689729 + Frame_Shift_Del DEL G G - TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr19:55689729delG ENST00000354308.3 - 3 456 c.87delC c.(85-87)ccfs p.P29fs SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 29 energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CCAGGGCCCAGGGGGGCACTG 0.602 3 6 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 8 41 --- --- --- ---