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 DNM1P47 0 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 6 4 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154617 5154617 + Missense_Mutation SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr12:5154617G>A ENST00000252321.3 + 1 1533 c.1304G>A c.(1303-1305)gGg>gAg p.G435E NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 435 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 AGGGAGCTGGGGCTGCTCATC 0.592000 11 23 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71126310 71126310 + Splice_Site SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr8:71126310G>A ENST00000452400.2 - 4 268 c.86_splice c.e4-1 p.S29_splice NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 29 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TCCTTTTGGGGCTTAAAAGAA 0.274000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 7 36 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122144788 122144788 + Missense_Mutation SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr2:122144788G>A ENST00000263710.4 - 32 3673 c.3284C>T c.(3283-3285)aCg>aTg p.T1095M CLASP1_ENST00000541859.1_Missense_Mutation_p.T851M|CLASP1_ENST00000409078.3_Missense_Mutation_p.T1067M|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1090M|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1073M|CLASP1_ENST00000545861.1_Missense_Mutation_p.T841M|CLASP1_ENST00000397587.3_Missense_Mutation_p.T1074M NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1095 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CCGGCCAATCGTATTGCTTGG 0.522000 11 5 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2694691 2694691 + Splice_Site SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr18:2694691C>T ENST00000320876.6 + 8 1378 c.1040_splice c.e8+1 p.A347_splice SMCHD1_ENST00000261598.8_Splice_Site_p.A347_splice|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 347 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 CGACAGTTAGCGTAAGTAATT 0.358000 12 11 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237957207 237957207 + Missense_Mutation SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr1:237957207G>A ENST00000366574.2 + 95 14140 c.13823G>A c.(13822-13824)cGg>cAg p.R4608Q RYR2_ENST00000360064.6_Missense_Mutation_p.R4614Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R4592Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4608 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAAGTGGCACGGAAATTGGAA 0.358000 15 17 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24742404 24742404 + Missense_Mutation SNP T T C TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr7:24742404T>C ENST00000545231.1 - 11 1890 c.740A>G c.(739-741)cAg>cGg p.Q247R DFNA5_ENST00000409970.1_Missense_Mutation_p.Q247R|DFNA5_ENST00000409775.3_Missense_Mutation_p.Q411R|DFNA5_ENST00000342947.3_Missense_Mutation_p.Q411R|DFNA5_ENST00000419307.1_Missense_Mutation_p.Q247R O60443 DFNA5_HUMAN deafness, autosomal dominant 5 411 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 GGGAATGATCTGGAGTTTGCA 0.507000 11 73 0 0 1 0 0 PCDHAC2 0 broad.mit.edu 37 5 140347665 140347665 + Silent SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr5:140347665G>A ENST00000289269.5 + 1 1846 c.1314G>A c.(1312-1314)acG>acA p.T438T PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 438 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACATCACGGTGACAGCCA 0.552000 8 96 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146480607 146480607 + Missense_Mutation SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr6:146480607G>A ENST00000392299.2 + 3 1294 c.824G>A c.(823-825)cGc>cAc p.R275H GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 275 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R275H(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CGACTCTTGCGCAAACTCCGA 0.577000 22 25 0 0 1 0 0 MRPS24 64951 broad.mit.edu 37 7 43906439 43906439 + Silent SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr7:43906439G>A ENST00000317534.5 - 4 424 c.363C>T c.(361-363)gcC>gcT p.A121A RP5-1165K10.1_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR NM_032014.2 NP_114403.1 Q96EL2 RT24_HUMAN mitochondrial ribosomal protein S24 121 translation mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 TCAGGACCACGGCACAGATCT 0.527000 3 52 0 0 1 0 0 SLC19A2 10560 broad.mit.edu 37 1 169439315 169439315 + Missense_Mutation SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr1:169439315G>A ENST00000236137.5 - 3 1153 c.917C>T c.(916-918)aCc>aTc p.T306I SLC19A2_ENST00000367804.3_Missense_Mutation_p.T105I|SLC19A2_ENST00000367802.3_Missense_Mutation_p.T268I NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 306 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) ATAGCCACAGGTAGAGAGGGC 0.507000 25 28 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63055788 63055788 + Missense_Mutation SNP G G T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr15:63055788G>T ENST00000561311.1 + 39 5218 c.4988G>T c.(4987-4989)tGt>tTt p.C1663F TLN2_ENST00000472902.1_Missense_Mutation_p.C56F|TLN2_ENST00000306829.6_Missense_Mutation_p.C1663F Q9Y4G6 TLN2_HUMAN talin 2 1663 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CAGAGGGAGTGTGATTACTCC 0.622000 15 20 2.48551e-13 2.83071e-13 1 1 0 BRI3BP 140707 broad.mit.edu 37 12 125509710 125509710 + Missense_Mutation SNP G G A rs145269757 TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr12:125509710G>A ENST00000341446.8 + 3 581 c.490G>A c.(490-492)Gtc>Atc p.V164I NM_080626.5 NP_542193.3 Q8WY22 BRI3B_HUMAN BRI3 binding protein 164 integral to membrane|mitochondrial outer membrane large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) CGTGCGGGTCGTCCTGTTTTC 0.607000 10 83 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53990499 53990499 + Missense_Mutation SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr1:53990499C>T ENST00000312233.2 - 5 1585 c.1019G>A c.(1018-1020)cGc>cAc p.R340H NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 340 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GACGTGCTTGCGGAGGGAGCT 0.637000 15 78 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143081568 143081568 + Missense_Mutation SNP C C A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr6:143081568C>A ENST00000367603.2 - 9 6599 c.5857G>T c.(5857-5859)Gta>Tta p.V1953L HIVEP2_ENST00000367604.1_Missense_Mutation_p.V1953L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V1953L NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1953 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CCGTGGGGTACGGCGCCAACA 0.478000 26 49 2.41591e-17 2.83007e-17 1 1 0 PDE1C 5137 broad.mit.edu 37 7 32109962 32109962 + Missense_Mutation SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr7:32109962G>A ENST00000396184.3 - 2 248 c.44C>T c.(43-45)tCt>tTt p.S15F PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396182.2_Missense_Mutation_p.S15F|PDE1C_ENST00000321453.7_Missense_Mutation_p.S15F|PDE1C_ENST00000396191.1_Missense_Mutation_p.S15F NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 15 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GTATTTCAGAGAGTTGCTCTC 0.527000 36 57 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390342 197390342 + Missense_Mutation SNP G G T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr1:197390342G>T ENST00000367400.3 + 6 1519 c.1384G>T c.(1384-1386)Gat>Tat p.D462Y CRB1_ENST00000535699.1_Missense_Mutation_p.D393Y|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.D462Y|CRB1_ENST00000543483.1_Missense_Mutation_p.D161Y|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.D350Y NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 462 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TCACTTCCAAGATGGCCAGCA 0.483000 30 44 3.57733e-08 3.96407e-08 1 1 0 BCORL1 63035 broad.mit.edu 37 X 129149433 129149433 + Silent SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chrX:129149433C>T ENST00000540052.1 + 3 2729 c.2685C>T c.(2683-2685)ttC>ttT p.F895F BCORL1_ENST00000359304.2_Silent_p.F895F|BCORL1_ENST00000303743.5_Silent_p.F895F|BCORL1_ENST00000218147.7_Silent_p.F895F NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 895 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.S894fs*26(1) breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GGGGCTCCTTCGTTCCAGAGC 0.562000 4 16 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39782157 39782157 + Missense_Mutation SNP C C G TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr1:39782157C>G ENST00000564288.1 + 28 4321 c.3544C>G c.(3544-3546)Ctg>Gtg p.L1182V MACF1_ENST00000317713.7_Missense_Mutation_p.L1187V|MACF1_ENST00000372915.3_Missense_Mutation_p.L1187V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L1187V|MACF1_ENST00000545844.1_Missense_Mutation_p.L1187V|MACF1_ENST00000567887.1_Missense_Mutation_p.L1219V|MACF1_ENST00000361689.2_Missense_Mutation_p.L1187V Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1187 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAAGTAGTACTGGCAGATCT 0.438000 30 113 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145547808 145547808 + Missense_Mutation SNP T T G TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr5:145547808T>G ENST00000394434.2 - 5 481 c.315A>C c.(313-315)aaA>aaC p.K105N LARS_ENST00000510191.1_Missense_Mutation_p.K51N|LARS_ENST00000511505.1_Intron|LARS_ENST00000545646.1_Intron|LARS_ENST00000274562.9_Missense_Mutation_p.K78N NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 105 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CTATTTCTCTTTTCAACTTAT 0.338000 23 63 0 0 1 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41620063 41620063 + Missense_Mutation SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr22:41620063C>T ENST00000216237.5 + 9 1140 c.982C>T c.(982-984)Cgg>Tgg p.R328W NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 328 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCAGGGCATGCGGCTGGAAGT 0.597000 4 58 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431734 56431734 + Silent SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr11:56431734C>T ENST00000302969.2 + 1 597 c.573C>T c.(571-573)gaC>gaT p.D191D NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 CTTGCTCAGACACCTACATCA 0.458000 12 123 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97779509 97779509 + Silent SNP C C A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr2:97779509C>A ENST00000420699.2 + 1 277 c.33C>A c.(31-33)acC>acA p.T11T ANKRD36_ENST00000461153.2_Silent_p.T11T NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 11 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 GGTGGCCCACCCTCATGGAGC 0.552000 6 108 0.0215528 0.0220916 1 1 0 WDR47 22911 broad.mit.edu 37 1 109553736 109553736 + Missense_Mutation SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr1:109553736C>T ENST00000357672.3 - 4 1223 c.848G>A c.(847-849)cGc>cAc p.R283H WDR47_ENST00000400794.3_Missense_Mutation_p.R318H|WDR47_ENST00000369962.3_Missense_Mutation_p.R311H|WDR47_ENST00000369965.4_Missense_Mutation_p.R311H|WDR47_ENST00000361054.3_Missense_Mutation_p.R283H O94967 WDR47_HUMAN WD repeat domain 47 311 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) ATTCAGAGAGCGGGTCATATA 0.453000 5 300 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53452948 53452948 + Missense_Mutation SNP C C A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr12:53452948C>A ENST00000314250.6 + 18 1813 c.1523C>A c.(1522-1524)tCt>tAt p.S508Y TENC1_ENST00000549700.1_Missense_Mutation_p.S508Y|TENC1_ENST00000451358.1_Missense_Mutation_p.S508Y|TENC1_ENST00000546602.1_Missense_Mutation_p.S508Y|TENC1_ENST00000314276.3_Missense_Mutation_p.S518Y|TENC1_ENST00000379902.3_Missense_Mutation_p.S384Y|TENC1_ENST00000552570.1_Missense_Mutation_p.S508Y NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 508 Pro-rich. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CCCATGCTCTCTGTCAGCAGC 0.701000 3 40 0.115264 0.115264 1 1 0 GPR179 440435 broad.mit.edu 37 17 36499576 36499576 + Missense_Mutation SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr17:36499576G>A ENST00000342292.4 - 1 117 c.97C>T c.(97-99)Cgc>Tgc p.R33C NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 33 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGCAGAGAGCGGATGGGCCGT 0.652000 12 27 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306846 54306846 + Silent SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr15:54306846G>A ENST00000545554.1 + 1 1746 c.1746G>A c.(1744-1746)tcG>tcA p.S582S UNC13C_ENST00000260323.11_Silent_p.S582S|UNC13C_ENST00000537900.1_Silent_p.S582S Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 582 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGTCATCTTCGGACCGGGAGC 0.453000 17 29 0 0 1 0 0 SEMA7A 8482 broad.mit.edu 37 15 74703021 74703021 + Missense_Mutation SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr15:74703021C>T ENST00000261918.4 - 14 2493 c.1945G>A c.(1945-1947)Gcc>Acc p.A649T SEMA7A_ENST00000542748.1_Missense_Mutation_p.A484T|SEMA7A_ENST00000543145.2_Missense_Mutation_p.A635T NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 649 axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 CAGAGGGAGGCGGCCAGGGCA 0.687000 34 29 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113942610 113942610 + Missense_Mutation SNP G G T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr2:113942610G>T ENST00000245796.6 + 3 1328 c.1133G>T c.(1132-1134)gGa>gTa p.G378V PSD4_ENST00000441564.2_Missense_Mutation_p.G378V NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 378 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ggatgtgtcggatctgatctt 0.537000 82 93 1.59627e-33 1.92491e-33 1 1 0 SSTR4 6754 broad.mit.edu 37 20 23016627 23016627 + Silent SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr20:23016627C>T ENST00000255008.3 + 1 571 c.507C>T c.(505-507)ggC>ggT p.G169G RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 169 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCAACCTGGGCGTGTGGCTGG 0.697000 29 38 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113798308 113798308 + Missense_Mutation SNP G G A rs144711550 byFrequency TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr13:113798308G>A ENST00000375559.3 + 6 684 c.646G>A c.(646-648)Gac>Aac p.D216N F10_ENST00000375551.3_Missense_Mutation_p.D216N|F10_ENST00000409306.1_Missense_Mutation_p.D216N NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 216 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GAACCCCTTCGACCTGCTTGA 0.632000 9 36 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51868974 51868974 + Missense_Mutation SNP G G A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr12:51868974G>A ENST00000453097.2 + 16 2373 c.2156G>A c.(2155-2157)cGt>cAt p.R719H SLC4A8_ENST00000514353.3_Missense_Mutation_p.R666H|SLC4A8_ENST00000394856.1_Missense_Mutation_p.R666H|SLC4A8_ENST00000358657.3_Missense_Mutation_p.R746H NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 719 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) AAGACGAGCCGTTATTTCCCA 0.428000 7 79 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70728789 70728789 + Missense_Mutation SNP T T C TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr10:70728789T>C ENST00000354185.4 + 7 1246 c.1148T>C c.(1147-1149)tTt>tCt p.F383S NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 383 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CATTGGGTATTTAATGTTGCC 0.358000 3 93 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119182607 119182607 + Missense_Mutation SNP C C T TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr11:119182607C>T ENST00000392814.1 - 5 1772 c.1043G>A c.(1042-1044)cGg>cAg p.R348Q MCAM_ENST00000264036.4_Missense_Mutation_p.R399Q P43121 MUC18_HUMAN melanoma cell adhesion molecule 399 Ig-like C2-type 2. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) TCCTGCCTCCCGTTTCAGGTC 0.602000 4 107 0 0 1 0 0 UBXN4 23190 broad.mit.edu 37 2 136537785 136537785 + Frame_Shift_Del DEL T T - TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr2:136537785delT ENST00000272638.9 + 12 1529 c.1218delT c.(1216-1218)tcfs p.S408fs UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 408 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 TTGTACACTCTTCCAGCGGAG 0.428 33 79 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 8 266 --- --- --- --- SNAP91 9892 broad.mit.edu 37 6 84350856 84350856 + Frame_Shift_Del DEL T T - TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr6:84350856delT ENST00000428679.2 - 8 1317 c.724delA c.(724-726)ctfs p.T242fs SNAP91_ENST00000439399.2_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000520213.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.T242fs O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 242 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GTCATTCTAGTTAGAAATCGT 0.289 2 4 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 2 4 --- --- --- --- NRGN 4900 broad.mit.edu 37 11 124615605 124615605 + Frame_Shift_Del DEL C C - TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr11:124615605delC ENST00000526916.2 + 2 362 c.222delC c.(220-222)ggfs p.G74fs RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000284292.5_Frame_Shift_Del_p.G74fs|NRGN_ENST00000412681.1_Frame_Shift_Del_p.G74fs Q92686 NEUG_HUMAN neurogranin (protein kinase C substrate, RC3) 74 Collagen-like. nervous system development|signal transduction calmodulin binding all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) cgggcggcggccccAGCGGAG 0.761 2 4 --- --- --- --- LRRIQ1 84125 broad.mit.edu 37 12 85466829 85466830 + Frame_Shift_Ins INS - - A TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr12:85466829_85466830insA ENST00000393217.2 + 11 2901_2902 c.2840_2841insA c.(2839-2841)aaafs p.K947fs NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 947 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ACCTCACTTACAAAAAATTCAG 0.371 39 56 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 4 --- --- --- --- hsa-mir-6080 0 broad.mit.edu 37 17 62750914 62750914 + RNA DEL T T - TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chr17:62750914delT ENST00000400873.3 - 0 1841 NR_026899.1 CTGATTATGCttttttttttg 0.433 3 4 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4906782-9697-4813-942b-94c2b8463d5c fa6e02fd-442a-4a16-8d8d-d85944432531 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 5 5 --- --- --- ---