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 MAP3K1 4214 broad.mit.edu 37 5 56184111 56184111 + Missense_Mutation SNP T T G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr5:56184111T>G ENST00000399503.3 + 19 4316 c.4316T>G c.(4315-4317)aTt>aGt p.I1439S NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 1439 Protein kinase. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GGCTGTGCTATTATAGAAATG 0.348000 51 54 0 0 0.870114 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72511387 72511387 + Missense_Mutation SNP A A G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr10:72511387A>G ENST00000373208.1 + 17 2590 c.2590A>G c.(2590-2592)Aag>Gag p.K864E ADAMTS14_ENST00000373207.1_Missense_Mutation_p.K861E NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 861 TSP type-1 2. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CCCCTGCAGCAAGGCCTGTGG 0.622000 14 26 0 0 0.457914 0 0 LRRK2 120892 broad.mit.edu 37 12 40757280 40757280 + Missense_Mutation SNP A A G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr12:40757280A>G ENST00000298910.7 + 48 7163 c.7105A>G c.(7105-7107)Aat>Gat p.N2369D NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2369 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGCTAAGCAAAATAGCCCTGT 0.358000 29 59 0 0 0.740014 0 0 MYL10 93408 broad.mit.edu 37 7 101265479 101265479 + Splice_Site SNP G G T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr7:101265479G>T ENST00000223167.4 - 5 528 c.349_splice c.e5-1 p.G117_splice NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 117 EF-hand 1. mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 CATTGATGCGGCCTGTGGGAG 0.597000 13 24 3.27435e-08 3.4976e-08 0.457914 1 0 TTN 7273 broad.mit.edu 37 2 179467028 179467028 + Silent SNP G G T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr2:179467028G>T ENST00000589042.1 - 283 55325 c.55101C>A c.(55099-55101)atC>atA p.I18367I TTN_ENST00000460472.2_Silent_p.I9302I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.I9427I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.I16726I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.I15799I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I9494I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16726 Fibronectin type-III 33. 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) CAGTGGCAGGGATCTCCCCAG 0.368000 12 73 0.00185496 0.00190912 0.435327 1 0 RPAP1 26015 broad.mit.edu 37 15 41823330 41823330 + Silent SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr15:41823330C>T ENST00000304330.4 - 7 950 c.834G>A c.(832-834)gaG>gaA p.E278E RPAP1_ENST00000568413.1_5'UTR|RPAP1_ENST00000561603.1_Silent_p.E278E NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 278 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCCTCTGCTCCTCAGAGGCTG 0.562000 87 165 0 0 0.870114 0 0 IQCH 64799 broad.mit.edu 37 15 67664907 67664907 + Silent SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr15:67664907T>C ENST00000335894.4 + 9 1278 c.1212T>C c.(1210-1212)atT>atC p.I404I IQCH_ENST00000360277.4_Silent_p.I156I|IQCH_ENST00000546225.1_Silent_p.I152I|IQCH_ENST00000358767.3_Silent_p.I231I NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 404 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TGATTGCCATTGCTTGGCTGT 0.453000 6 184 0 0 0.248553 0 0 TRMT13 54482 broad.mit.edu 37 1 100613725 100613725 + Nonsense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:100613725C>T ENST00000370141.2 + 10 1099 c.1093C>T c.(1093-1095)Cag>Tag p.Q365* NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) CCATTATTTCCAGCGAATGAG 0.428000 20 71 0 0 0.575678 0 0 ZDHHC16 84287 broad.mit.edu 37 10 99213413 99213413 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr10:99213413C>T ENST00000393760.1 + 7 1032 c.683C>T c.(682-684)gCc>gTc p.A228V ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A228V|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A189V|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A228V|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.A228V|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A163V NM_198046.1 NP_932163.1 Q969W1 ZDH16_HUMAN zinc finger, DHHC-type containing 16 228 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) GCTTATGCTGCCATTGAGGTG 0.507000 25 50 0 0 0.654019 0 0 SUPT6H 6830 broad.mit.edu 37 17 27000506 27000506 + Missense_Mutation SNP A A C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr17:27000506A>C ENST00000314616.6 + 2 370 c.87A>C c.(85-87)aaA>aaC p.K29N SUPT6H_ENST00000347486.4_Missense_Mutation_p.K29N NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 29 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCACCAAGAAATTTGTGGAAG 0.493000 11 29 0 0 0.435327 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202430518 202430518 + Missense_Mutation SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr2:202430518G>A ENST00000439140.1 - 9 955 c.911C>T c.(910-912)gCt>gTt p.A304V ALS2CR11_ENST00000439802.1_Missense_Mutation_p.A304V|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.A304V|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.A304V NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 304 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 GGATTGCACAGCTGGAGTCCC 0.378000 23 34 0 0 0.624587 0 0 C11orf58 10944 broad.mit.edu 37 11 16774369 16774369 + Missense_Mutation SNP T T A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:16774369T>A ENST00000525684.1 + 3 306 c.185T>A c.(184-186)cTc>cAc p.L62H C11orf58_ENST00000228136.4_Silent_p.S82S|C11orf58_ENST00000422258.2_Silent_p.S38S O00193 SMAP_HUMAN chromosome 11 open reading frame 58 0 NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1) 7 AACTGGAGTCTCAATATCAGC 0.348000 27 50 0 0 0.740014 0 0 MOS 4342 broad.mit.edu 37 8 57025710 57025710 + Missense_Mutation SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr8:57025710G>A ENST00000311923.1 - 1 831 c.832C>T c.(832-834)Ccg>Tcg p.P278S NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 278 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) CCCGAATACGGCGCCTGCTTG 0.637000 4 50 0 0 0.150653 0 0 MUC16 94025 broad.mit.edu 37 19 9076119 9076119 + Missense_Mutation SNP A A C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr19:9076119A>C ENST00000397910.4 - 3 11530 c.11327T>G c.(11326-11328)tTg>tGg p.L3776W NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3777 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGAAGGGCAACTGTGAGGT 0.517000 40 100 0 0 0.847076 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47424034 47424034 + Missense_Mutation SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr19:47424034T>C ENST00000404338.3 + 1 2102 c.2102T>C c.(2101-2103)aTt>aCt p.I701T NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 701 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 CTTACATTAATTTTGGTTAAC 0.443000 10 10 0 0 0.335167 0 0 KPNB1 3837 broad.mit.edu 37 17 45747173 45747173 + Silent SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr17:45747173C>T ENST00000290158.4 + 11 1761 c.1354C>T c.(1354-1356)Ctg>Ttg p.L452L KPNB1_ENST00000537679.1_Silent_p.L236L|KPNB1_ENST00000540627.1_Silent_p.L307L|KPNB1_ENST00000535458.2_Silent_p.L307L NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 452 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 CTTGGCTCCCCTGCTACAGTG 0.502000 50 74 0 0 0.870114 0 0 BCL9 607 broad.mit.edu 37 1 147092835 147092835 + Silent SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:147092835C>T ENST00000234739.3 + 8 3614 c.2874C>T c.(2872-2874)tcC>tcT p.S958S NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 958 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CCATGGCCTCCCCAGCCATGC 0.527000 T """IGH@, IGL@""" B-ALL 10 52 0 0 0.411799 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E 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 5 75 0 0 0.411799 0 0 CSRNP2 81566 broad.mit.edu 37 12 51467805 51467805 + Missense_Mutation SNP A A T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr12:51467805A>T ENST00000228515.1 - 3 509 c.212T>A c.(211-213)gTg>gAg p.V71E NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 71 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 GTATACAGTCACCTGGTCAAA 0.532000 37 76 0 0 0.819951 0 0 EEA1 8411 broad.mit.edu 37 12 93192829 93192829 + Missense_Mutation SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr12:93192829T>C ENST00000322349.8 - 21 3070 c.2806A>G c.(2806-2808)Atg>Gtg p.M936V NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 936 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 TGTTCCTGCATTGAATTGAGT 0.333000 8 37 0 0 0.335167 0 0 SYNE1 23345 broad.mit.edu 37 6 152557402 152557402 + Missense_Mutation SNP A A C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr6:152557402A>C ENST00000367255.5 - 110 20837 c.20236T>G c.(20236-20238)Tta>Gta p.L6746V SYNE1_ENST00000423061.1_Missense_Mutation_p.L6675V|SYNE1_ENST00000356820.4_Missense_Mutation_p.L1270V|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6675V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L6746V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6358V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6746 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACTTGATATAATTTGGGCTGG 0.313000 HNSCC(10;0.0054) 31 54 0 0 0.729181 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 6 70 0 0 0.248553 0 0 CDR1 1038 broad.mit.edu 37 X 139866077 139866077 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:139866077C>T ENST00000370532.2 - 1 646 c.455G>A c.(454-456)aGa>aAa p.R152K NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 152 6 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TCCTGAAAATCTACGTCTTCC 0.443000 107 198 0 0 0.870114 0 0 ARMC4 55130 broad.mit.edu 37 10 28149666 28149666 + Missense_Mutation SNP C C G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr10:28149666C>G ENST00000305242.5 - 19 3001 c.2909G>C c.(2908-2910)cGt>cCt p.R970P ARMC4_ENST00000537576.1_Missense_Mutation_p.R662P|ARMC4_ENST00000545014.1_Missense_Mutation_p.R495P NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 970 binding p.R970H(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TTTCAGATAACGCACTAGTGG 0.488000 27 59 0 0 0.706142 0 0 TMED2 10959 broad.mit.edu 37 12 124069310 124069310 + Missense_Mutation SNP A A G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr12:124069310A>G ENST00000262225.3 + 1 233 c.127A>G c.(127-129)Atg>Gtg p.M43V RP11-486O12.2_ENST00000498967.2_lincRNA NM_006815.3 NP_006806.1 Q15363 TMED2_HUMAN transmembrane emp24 domain trafficking protein 2 43 GOLD. protein transport|vesicle-mediated transport COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane protein binding kidney(1)|large_intestine(4)|lung(1)|prostate(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745) GGGCACCAAGATGGGCCTCAT 0.647000 26 49 0 0 0.717897 0 0 DENND5A 23258 broad.mit.edu 37 11 9228258 9228258 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:9228258C>T ENST00000328194.3 - 3 573 c.253G>A c.(253-255)Gta>Ata p.V85I DENND5A_ENST00000530044.1_Missense_Mutation_p.V85I NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 85 UDENN. p.V85L(1) breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TTCCATTCTACGTTCTCAGGA 0.348000 58 130 0 0 0.870114 0 0 DNMT3B 1789 broad.mit.edu 37 20 31383331 31383331 + Missense_Mutation SNP C C A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr20:31383331C>A ENST00000328111.2 + 11 1564 c.1243C>A c.(1243-1245)Cag>Aag p.Q415K DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q353K|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q407K|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q319K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q395K|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000375623.4_Silent_p.I304I NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 415 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGATGAAGATCAGAGCCGAGG 0.557000 10 36 3.86212e-05 4.06387e-05 0.361761 1 0 CATSPERG 57828 broad.mit.edu 37 19 38857909 38857909 + Silent SNP C C T rs144017491 byFrequency TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr19:38857909C>T ENST00000409235.3 + 23 2842 c.2727C>T c.(2725-2727)tgC>tgT p.C909C CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.C869C NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 909 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ACTTTGACTGCGTTAACGTGA 0.567000 11 23 0 0 0.361761 0 0 C12orf54 121273 broad.mit.edu 37 12 48888763 48888763 + Splice_Site SNP A A G rs2705132 by1000genomes TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr12:48888763A>G ENST00000314014.2 + 8 555 c.e8+1 C12orf54_ENST00000548364.1_Splice_Site|RP11-722P11.4_ENST00000551847.1_RNA NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 endometrium(1)|large_intestine(4) 5 CTTCCGCCAGATGCTTTACCC 0.542000 3 63 0 0 0.115264 0 0 BAI3 577 broad.mit.edu 37 6 70071056 70071056 + Silent SNP C C A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr6:70071056C>A ENST00000370598.1 + 29 4712 c.3891C>A c.(3889-3891)gtC>gtA p.V1297V BAI3_ENST00000546190.1_Silent_p.V261V|BAI3_ENST00000238918.8_Silent_p.V503V NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1297 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGGACATAGTCCATCCTCAAG 0.368000 13 50 4.3838e-07 4.64749e-07 0.435327 1 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22472946 22472946 + RNA SNP C C A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr15:22472946C>A ENST00000557788.2 - 0 324 ACGGCCCTGTCCGCGGCGGTC 0.602000 57 498 3.30226e-22 3.81655e-22 0.870114 1 0 CNDP1 84735 broad.mit.edu 37 18 72247364 72247364 + Splice_Site SNP A A G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr18:72247364A>G ENST00000582365.1 + 9 1104 c.e9-1 CNDP1_ENST00000358821.3_Splice_Site Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) GTCACCTTTTAGGTGACACGA 0.348000 6 17 0 0 0.248553 0 0 AKAP9 10142 broad.mit.edu 37 7 91722412 91722412 + Splice_Site SNP A A G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr7:91722412A>G ENST00000359028.2 + 39 9597 c.9370_splice c.e39-1 p.E3124_splice AKAP9_ENST00000356239.3_Splice_Site_p.E3120_splice|AKAP9_ENST00000358100.2_Splice_Site_p.E3070_splice Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3124 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCTGTGTAGAACTCTTGGAAT 0.358000 T BRAF papillary thyroid 17 34 0 0 0.520397 0 0 C6 729 broad.mit.edu 37 5 41186209 41186209 + Missense_Mutation SNP T T G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr5:41186209T>G ENST00000263413.3 - 6 953 c.689A>C c.(688-690)tAc>tCc p.Y230S C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.Y230S NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 230 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CGGAACACGGTATGGATTACT 0.438000 36 47 0 0 0.788014 0 0 THOP1 7064 broad.mit.edu 37 19 2794798 2794798 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr19:2794798C>T ENST00000307741.6 + 3 469 c.266C>T c.(265-267)tCc>tTc p.S89F NM_003249.3 NP_003240.1 P52888 THOP1_HUMAN thimet oligopeptidase 1 89 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1) 14 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) CAGCATGTTTCCCCCTCCAAG 0.557000 65 119 0 0 0.870114 0 0 GK 2710 broad.mit.edu 37 X 30738149 30738149 + Silent SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:30738149G>A ENST00000378943.3 + 15 1334 c.1155G>A c.(1153-1155)caG>caA p.Q385Q GK-AS1_ENST00000464659.1_RNA|GK_ENST00000427190.1_Silent_p.Q186Q|GK_ENST00000378945.3_Silent_p.Q385Q|GK_ENST00000378946.3_Silent_p.Q391Q|RP11-242C19.2_ENST00000497961.1_RNA NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 391 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 GACTCACTCAGTTCACCAATA 0.333000 5 98 0 0 0.184627 0 0 NEURL4 84461 broad.mit.edu 37 17 7228990 7228990 + Missense_Mutation SNP G G T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr17:7228990G>T ENST00000399464.2 - 7 1351 c.1336C>A c.(1336-1338)Cta>Ata p.L446I NEURL4_ENST00000315614.7_Missense_Mutation_p.L446I|NEURL4_ENST00000570460.1_Missense_Mutation_p.L424I NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AAGAAGTGTAGGGCAGAGTTG 0.567000 27 79 4.02929e-09 4.37023e-09 0.750413 1 0 DIAPH1 1729 broad.mit.edu 37 5 140896574 140896574 + Splice_Site SNP G G T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr5:140896574G>T ENST00000253811.6 - 28 3806 c.3664_splice c.e28-1 p.A1222_splice DIAPH1_ENST00000398562.2_Splice_Site_p.A1197_splice|DIAPH1_ENST00000520569.1_Splice_Site_p.A1164_splice|DIAPH1_ENST00000518047.1_Splice_Site_p.A1209_splice|DIAPH1_ENST00000398557.4_Splice_Site_p.A1221_splice|DIAPH1_ENST00000398566.3_Splice_Site_p.A1213_splice|DIAPH1_ENST00000389054.3_Splice_Site_p.A1218_splice|DIAPH1_ENST00000389057.5_Splice_Site_p.A1212_splice O60610 DIAP1_HUMAN diaphanous-related formin 1 1221 DAD. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTCCTGTTGGCTGCAAGAG 0.498000 12 20 7.03913e-09 7.57646e-09 0.411799 1 0 MTOR 2475 broad.mit.edu 37 1 11174411 11174411 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:11174411C>T ENST00000361445.4 - 53 7340 c.7264G>A c.(7264-7266)Gtc>Atc p.V2422I MTOR_ENST00000376838.1_Missense_Mutation_p.V627I NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2422 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GGGTCATAGACAAAGGCTTCC 0.527000 31 51 0 0 0.779181 0 0 RARG 5916 broad.mit.edu 37 12 53621180 53621180 + Silent SNP G G C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr12:53621180G>C ENST00000425354.2 - 3 637 c.150C>G c.(148-150)ggC>ggG p.G50G RARG_ENST00000543762.1_Intron|RARG_ENST00000394426.1_Silent_p.G50G|RARG_ENST00000327550.3_Intron NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 50 Modulating. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GGTCAGGCTGGCCCAGGCCCC 0.607000 26 48 0 0 0.717897 0 0 TBXAS1 6916 broad.mit.edu 37 7 139611072 139611072 + Missense_Mutation SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr7:139611072G>A ENST00000263552.6 + 8 826 c.288G>A c.(286-288)atG>atA p.M96I TBXAS1_ENST00000414508.2_Missense_Mutation_p.M96I|TBXAS1_ENST00000455353.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000448866.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000425687.1_Missense_Mutation_p.M28I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000539806.1_Missense_Mutation_p.M96I|TBXAS1_ENST00000416849.2_Missense_Mutation_p.M96I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000336425.5_Missense_Mutation_p.M95I|TBXAS1_ENST00000436047.2_Missense_Mutation_p.M96I NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 95 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) AGCCAGACATGATCAAGCAGG 0.393000 61 104 0 0 0.870114 0 0 ASB1 51665 broad.mit.edu 37 2 239353298 239353298 + Silent SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr2:239353298G>A ENST00000264607.4 + 4 1057 c.810G>A c.(808-810)tcG>tcA p.S270S ASB1_ENST00000409297.1_Silent_p.S169S NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 270 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) AGTGGGAATCGCTGGGCCCAG 0.542000 30 68 0 0 0.760397 0 0 SEMA6C 10500 broad.mit.edu 37 1 151108514 151108514 + Missense_Mutation SNP T T A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:151108514T>A ENST00000341697.3 - 13 2923 c.1232A>T c.(1231-1233)cAt>cTt p.H411L Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 411 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TAGAGGCTGATGGGTGACAGG 0.567000 25 51 0 0 0.693898 0 0 RPA1 6117 broad.mit.edu 37 17 1782610 1782610 + Missense_Mutation SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr17:1782610G>A ENST00000254719.5 + 10 971 c.861G>A c.(859-861)atG>atA p.M287I NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 287 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 CTTCCGTCATGCCCTGTGAGG 0.443000 Nucleotide excision repair (NER) 25 62 0 0 0.667858 0 0 DPEP1 1800 broad.mit.edu 37 16 89702720 89702720 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr16:89702720C>T ENST00000393092.3 + 4 577 c.286C>T c.(286-288)Cgg>Tgg p.R96W DPEP1_ENST00000261615.4_Missense_Mutation_p.R96W|DPEP1_ENST00000421184.1_Missense_Mutation_p.R96W NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 96 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) AGACGCCGTGCGGAGGACGCT 0.647000 4 17 0 0 0.150653 0 0 KIF1C 10749 broad.mit.edu 37 17 4916956 4916956 + Silent SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr17:4916956C>T ENST00000320785.5 + 17 1857 c.1500C>T c.(1498-1500)caC>caT p.H500H NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 500 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 AGACTCCCCACCTGGTGAACC 0.597000 16 23 0 0 0.557998 0 0 ARID5B 84159 broad.mit.edu 37 10 63851371 63851371 + Missense_Mutation SNP A A G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr10:63851371A>G ENST00000279873.7 + 10 2559 c.2149A>G c.(2149-2151)Atc>Gtc p.I717V ARID5B_ENST00000309334.5_Missense_Mutation_p.I474V NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 717 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) ACCCCCTTTGATCAGCAAAAA 0.552000 32 74 0 0 0.804634 0 0 TTI1 9675 broad.mit.edu 37 20 36642156 36642156 + Silent SNP G G T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr20:36642156G>T ENST00000373448.2 - 3 301 c.63C>A c.(61-63)ctC>ctA p.L21L TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Silent_p.L21L|TTI1_ENST00000449821.1_Silent_p.L21L NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 21 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 GGGTCTTTGTGAGCTGAACAC 0.512000 53 98 5.19286e-32 6.15288e-32 0.870114 1 0 NPR1 4881 broad.mit.edu 37 1 153653153 153653153 + Missense_Mutation SNP G G T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:153653153G>T ENST00000368680.3 + 2 1370 c.898G>T c.(898-900)Gtc>Ttc p.V300F NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 300 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TGGGCAGGATGTCAGTGCCCG 0.592000 17 19 1.02788e-11 1.13228e-11 0.520397 1 0 EFNB1 1947 broad.mit.edu 37 X 68060246 68060246 + Nonsense_Mutation SNP A A T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:68060246A>T ENST00000204961.4 + 5 1570 c.790A>T c.(790-792)Aag>Tag p.K264* NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 264 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 CCTACTACTGAAGCTACGCAA 0.617000 11 34 0 0 0.435327 0 0 IRF7 3665 broad.mit.edu 37 11 614335 614335 + Missense_Mutation SNP G G T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:614335G>T ENST00000397566.1 - 4 966 c.557C>A c.(556-558)cCt>cAt p.P186H IRF7_ENST00000397570.1_Missense_Mutation_p.P173H|IRF7_ENST00000525445.1_Missense_Mutation_p.P67H|IRF7_ENST00000330243.5_Missense_Mutation_p.P186H|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000348655.6_Missense_Mutation_p.P173H|IRF7_ENST00000397574.2_Missense_Mutation_p.P173H NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 173 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCTGGGGCAGGGAGGGGGCC 0.647000 8 9 1.33987e-11 1.46451e-11 0.361761 1 0 RRBP1 6238 broad.mit.edu 37 20 17600277 17600277 + Splice_Site SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr20:17600277C>T ENST00000377813.1 - 19 3979 c.e19+1 RRBP1_ENST00000360807.4_Splice_Site|RRBP1_ENST00000377807.2_Splice_Site|RRBP1_ENST00000246043.4_Splice_Site|RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000455029.2_Splice_Site Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GGCAGACTCACCCCTGCCACC 0.647000 6 24 0 0 0.248553 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415007 210415007 + Silent SNP A A C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:210415007A>C ENST00000367012.3 + 4 626 c.396A>C c.(394-396)atA>atC p.I132I SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 132 SERTA. protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) CTGTCCTTATAAACAATTTGA 0.408000 50 78 0 0 0.870114 0 0 TUBA1C 84790 broad.mit.edu 37 12 49666782 49666782 + Silent SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr12:49666782T>C ENST00000301072.6 + 4 1397 c.1122T>C c.(1120-1122)gcT>gcC p.A374A TUBA1C_ENST00000541364.1_Silent_p.A444A|RP11-161H23.5_ENST00000550468.2_RNA NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c 374 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 TACAGAGAGCTGTGTGCATGC 0.562000 19 36 0 0 0.575678 0 0 KLHL13 90293 broad.mit.edu 37 X 117043342 117043342 + Missense_Mutation SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:117043342T>C ENST00000371876.1 - 4 3556 c.1135A>G c.(1135-1137)Aag>Gag p.K379E KLHL13_ENST00000541812.1_Missense_Mutation_p.K414E|KLHL13_ENST00000371878.1_Missense_Mutation_p.K379E|KLHL13_ENST00000540167.1_Missense_Mutation_p.K414E|KLHL13_ENST00000262820.3_Missense_Mutation_p.K430E|KLHL13_ENST00000469946.1_Missense_Mutation_p.K379E|KLHL13_ENST00000539496.1_Missense_Mutation_p.K433E|KLHL13_ENST00000371882.1_Missense_Mutation_p.K379E|KLHL13_ENST00000545703.1_Missense_Mutation_p.K388E Q9P2N7 KLH13_HUMAN kelch-like family member 13 430 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AAGGTGCGCTTTTCATTTAAA 0.398000 39 47 0 0 0.812448 0 0 RGS18 64407 broad.mit.edu 37 1 192128415 192128415 + Missense_Mutation SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:192128415G>A ENST00000367460.3 + 2 366 c.185G>A c.(184-186)cGc>cAc p.R62H RGS18_ENST00000481707.1_3'UTR NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 62 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.R62H(1) kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GAAGACACCCGCTCCAGTAGA 0.353000 8 21 0 0 0.307466 0 0 LOC286059 286059 broad.mit.edu 37 8 22938937 22938937 + RNA SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr8:22938937C>T ENST00000501897.1 + 0 441 NR_038873.1 TTTACCTTTTCTCCTACAAAG 0.473000 3 17 0 0 0.307466 0 0 ANKRD9 122416 broad.mit.edu 37 14 102973996 102973996 + Silent SNP G G C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr14:102973996G>C ENST00000286918.4 - 4 827 c.231C>G c.(229-231)ctC>ctG p.L77L ANKRD9_ENST00000560748.1_Silent_p.L77L|ANKRD9_ENST00000559651.1_Silent_p.L77L NM_152326.2 NP_689539.1 Q96BM1 ANKR9_HUMAN ankyrin repeat domain 9 77 pancreas(1)|skin(1) 2 CGAGCGCGTAGAGCAGCGCCT 0.721000 4 3 0 0 0.150653 0 0 HEG1 57493 broad.mit.edu 37 3 124738166 124738166 + Missense_Mutation SNP A A G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr3:124738166A>G ENST00000311127.4 - 5 1595 c.1528T>C c.(1528-1530)Tct>Cct p.S510P HEG1_ENST00000477536.1_5'UTR NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 510 Ser-rich. extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GTAGATGAAGACTCTGAATAA 0.463000 5 139 0 0 0.184627 0 0 RPA1 6117 broad.mit.edu 37 17 1782612 1782612 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr17:1782612C>T ENST00000254719.5 + 10 973 c.863C>T c.(862-864)cCc>cTc p.P288L NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 288 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 TCCGTCATGCCCTGTGAGGAC 0.443000 Nucleotide excision repair (NER) 26 61 0 0 0.667858 0 0 KIF1A 547 broad.mit.edu 37 2 241706374 241706374 + Nonsense_Mutation SNP C C A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr2:241706374C>A ENST00000498729.2 - 19 1888 c.1642G>T c.(1642-1644)Gag>Tag p.E548* KIF1A_ENST00000320389.7_Nonsense_Mutation_p.E539* NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 539 FHA. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity p.E539K(1) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ACGCAGTGCTCCTCCTTGATG 0.652000 7 9 0.000157383 0.000164378 0.278610 1 0 COL6A3 1293 broad.mit.edu 37 2 238287851 238287851 + Missense_Mutation SNP A A C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr2:238287851A>C ENST00000295550.4 - 6 2377 c.1925T>G c.(1924-1926)tTt>tGt p.F642C COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.F436C|COL6A3_ENST00000392003.2_Missense_Mutation_p.F235C|COL6A3_ENST00000392004.3_Missense_Mutation_p.F436C|COL6A3_ENST00000353578.4_Missense_Mutation_p.F436C|COL6A3_ENST00000347401.3_Missense_Mutation_p.F441C|COL6A3_ENST00000346358.4_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 642 Nonhelical region.|VWFA 4. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ATCCAAAAGAAAGATGATATC 0.393000 26 65 0 0 0.693898 0 0 NUDT21 11051 broad.mit.edu 37 16 56473652 56473652 + Missense_Mutation SNP C C G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr16:56473652C>G ENST00000300291.5 - 4 560 c.388G>C c.(388-390)Ggt>Cgt p.G130R NM_007006.2 NP_008937.1 O43809 CPSF5_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 21 130 Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription centrosome|mRNA cleavage factor complex|paraspeckles AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4) 7 TCCTGACGACCCAGTATCTGT 0.403000 86 148 0 0 0.870114 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 5 64 0 0 0.184627 0 0 DST 667 broad.mit.edu 37 6 56473841 56473841 + Missense_Mutation SNP C C G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr6:56473841C>G ENST00000370754.5 - 39 5485 c.5486G>C c.(5485-5487)aGc>aCc p.S1829T DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S1651T|DST_ENST00000361203.3_Missense_Mutation_p.S1651T|DST_ENST00000446842.2_Missense_Mutation_p.S1325T|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S1651T Q03001 DYST_HUMAN dystonin 1651 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGTTATCATGCTTTGAGCTAG 0.433000 88 226 0 0 0.870114 0 0 ERCC6L 54821 broad.mit.edu 37 X 71427585 71427585 + Silent SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:71427585T>C ENST00000373657.1 - 3 1265 c.663A>G c.(661-663)agA>agG p.R221R PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.R344R Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 344 Helicase ATP-binding. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TTTCATTAAGTCTGGCCTCTG 0.358000 51 185 0 0 0.870114 0 0 COX19 90639 broad.mit.edu 37 7 1009028 1009028 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr7:1009028C>T ENST00000344111.3 - 3 348 c.259G>A c.(259-261)Gag>Aag p.E87K NM_001031617.2 NP_001026788.1 Q49B96 COX19_HUMAN cytochrome c oxidase assembly homolog 19 (S. cerevisiae) 87 cytosol endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15) TTTTTTGCCTCTGATTTTCCA 0.473000 115 274 0 0 0.870114 0 0 CALHM1 255022 broad.mit.edu 37 10 105215351 105215351 + Nonsense_Mutation SNP C C A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr10:105215351C>A ENST00000329905.5 - 2 845 c.709G>T c.(709-711)Gag>Tag p.E237* RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 237 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 TTGGCGTGCTCCGTGCACGTC 0.607000 17 28 1.02788e-11 1.13228e-11 0.520397 1 0 ZNF318 24149 broad.mit.edu 37 6 43316104 43316104 + Silent SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr6:43316104G>A ENST00000361428.2 - 6 3107 c.3030C>T c.(3028-3030)agC>agT p.S1010S ZNF318_ENST00000318149.3_Silent_p.S1010S NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1010 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTTTTTCTGGGCTCTTAGATT 0.393000 80 183 0 0 0.870114 0 0 MAP3K11 4296 broad.mit.edu 37 11 65380540 65380540 + Missense_Mutation SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:65380540G>A ENST00000309100.3 - 1 1173 c.688C>T c.(688-690)Cac>Tac p.H230Y NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 230 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 GCCTCGCAGTGCAGGTAGTGC 0.652000 13 28 0 0 0.411799 0 0 HSPA8 3312 broad.mit.edu 37 11 122930898 122930898 + Missense_Mutation SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:122930898T>C ENST00000534624.1 - 4 766 c.490A>G c.(490-492)Att>Gtt p.I164V HSPA8_ENST00000453788.2_Missense_Mutation_p.I164V|HSPA8_ENST00000227378.3_Missense_Mutation_p.I164V|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.I164V|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.I145V NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 164 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGACCAGCAATAGTTCCAGCA 0.423000 47 72 0 0 0.870114 0 0 CNDP2 55748 broad.mit.edu 37 18 72180800 72180800 + Nonsense_Mutation SNP T T A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr18:72180800T>A ENST00000324262.4 + 8 1065 c.749T>A c.(748-750)tTg>tAg p.L250* CNDP2_ENST00000579847.1_Nonsense_Mutation_p.L250*|CNDP2_ENST00000324301.8_Nonsense_Mutation_p.L166* NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 250 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) TCAGGCTCTTTGGTGGACAAG 0.622000 14 27 0 0 0.435327 0 0 NOP16 51491 broad.mit.edu 37 5 175811208 175811208 + Missense_Mutation SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr5:175811208T>C ENST00000510123.1 - 5 692 c.470A>G c.(469-471)cAg>cGg p.Q157R NOP16_ENST00000507413.1_Missense_Mutation_p.R63G|NOP16_ENST00000389158.5_3'UTR NM_001256539.1|NM_001256540.1|NM_016391.5 NP_001243468.1|NP_001243469.1|NP_057475.2 Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein 0 nucleolus central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 8 CGCCTCAGCCTGGGGCAGCTG 0.562000 51 45 0 0 0.870114 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981066 61981066 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr20:61981066C>T ENST00000370263.4 - 5 1918 c.1697G>A c.(1696-1698)cGg>cAg p.R566Q CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 566 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CTCCACCGCCCGGGTCAGGGC 0.677000 26 46 0 0 0.681144 0 0 WDR60 55112 broad.mit.edu 37 7 158705779 158705779 + Missense_Mutation SNP T T A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr7:158705779T>A ENST00000407559.3 + 13 1852 c.1694T>A c.(1693-1695)gTa>gAa p.V565E NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 565 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AGTACTGTTGTATCTGGAGGT 0.388000 10 23 0 0 0.361761 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113181276 113181276 + Missense_Mutation SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr13:113181276G>A ENST00000261965.3 - 13 1721 c.1535C>T c.(1534-1536)tCt>tTt p.S512F TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S512F NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 512 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 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) TGACTCTGCAGACTTGGTCAC 0.428000 32 49 0 0 0.804634 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125555791 125555791 + Silent SNP C C G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr2:125555791C>G ENST00000431078.1 + 19 3472 c.3108C>G c.(3106-3108)tcC>tcG p.S1036S NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1036 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CAGCTCCATCCAAGGAAAACA 0.448000 19 29 0 0 0.592651 0 0 CUBN 8029 broad.mit.edu 37 10 17165680 17165680 + Silent SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr10:17165680G>A ENST00000377833.4 - 5 461 c.396C>T c.(394-396)gaC>gaT p.D132D CUBN_ENST00000377823.1_Silent_p.D132D NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 132 EGF-like 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAACCTTTTTGTCAACAGTCT 0.448000 6 17 0 0 0.217242 0 0 MYRF 745 broad.mit.edu 37 11 61549236 61549236 + Nonsense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:61549236C>T ENST00000278836.5 + 22 3052 c.2956C>T c.(2956-2958)Cga>Tga p.R986* TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Nonsense_Mutation_p.R377*|MYRF_ENST00000265460.5_Nonsense_Mutation_p.R951* NM_001127392.1 NP_001120864.1 myelin regulatory factor CCGGGCCCGCCGAGGGGCCCT 0.692000 17 25 0 0 0.557998 0 0 KLK3 354 broad.mit.edu 37 19 51362828 51362828 + Missense_Mutation SNP A A C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr19:51362828A>C ENST00000360617.3 + 5 673 c.673A>C c.(673-675)Atg>Ctg p.M225L KLK3_ENST00000326003.2_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Missense_Mutation_p.M182L P07288 KLK3_HUMAN kallikrein-related peptidase 3 5 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) AGCCCTGCCGATGGTCCTCCA 0.607000 4 89 0 0 0.184627 0 0 MAPT 4137 broad.mit.edu 37 17 44091681 44091681 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr17:44091681C>T ENST00000344290.5 + 13 2315 c.1993C>T c.(1993-1995)Cat>Tat p.H665Y MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Missense_Mutation_p.H230Y|MAPT_ENST00000574436.1_Missense_Mutation_p.H330Y|MAPT_ENST00000415613.2_Missense_Mutation_p.H665Y|MAPT_ENST00000351559.5_Missense_Mutation_p.H330Y|MAPT_ENST00000334239.8_Missense_Mutation_p.H241Y|MAPT_ENST00000262410.5_Missense_Mutation_p.H647Y|MAPT_ENST00000446361.3_Missense_Mutation_p.H272Y|MAPT_ENST00000347967.5_Missense_Mutation_p.H205Y|MAPT_ENST00000420682.2_Missense_Mutation_p.H301Y|MAPT_ENST00000535772.1_Missense_Mutation_p.H299Y|MAPT_ENST00000431008.3_Missense_Mutation_p.H299Y|MAPT_ENST00000571987.1_Missense_Mutation_p.H647Y|MAPT_ENST00000340799.5_Missense_Mutation_p.H301Y NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 647 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CAACATCCATCATAAACCAGG 0.552000 13 21 0 0 0.457914 0 0 MYO7A 4647 broad.mit.edu 37 11 76909563 76909563 + Missense_Mutation SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:76909563G>A ENST00000409709.3 + 34 4737 c.4465G>A c.(4465-4467)Gtc>Atc p.V1489I MYO7A_ENST00000458637.2_Missense_Mutation_p.V1489I|MYO7A_ENST00000409619.2_Missense_Mutation_p.V1478I NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1489 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CAAGAACGACGTCATCGTGGC 0.607000 16 35 0 0 0.500413 0 0 CIITA 4261 broad.mit.edu 37 16 10997754 10997754 + Splice_Site SNP T T A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr16:10997754T>A ENST00000324288.8 + 9 1070 c.e9+2 CIITA_ENST00000537380.1_Splice_Site|CIITA_ENST00000381835.5_Splice_Site NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 ACATGACAGGTAAGGACCCTT 0.582000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 34 73 0 0 0.769981 0 0 RUSC1-AS1 284618 broad.mit.edu 37 1 155290484 155290484 + RNA SNP G G C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:155290484G>C ENST00000446880.1 - 0 410 RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA Q66K80 RUAS1_HUMAN GCTCGGCCCAGCCAGAGTCTG 0.537000 5 14 0 0 0.184627 0 0 SLC22A9 114571 broad.mit.edu 37 11 63177323 63177323 + Missense_Mutation SNP A A G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:63177323A>G ENST00000279178.3 + 10 1900 c.1651A>G c.(1651-1653)Acg>Gcg p.T551A SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 551 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AGTGGAAGTGACGCAGTTTTA 0.398000 9 38 0 0 0.387290 0 0 EIF5AL1 143244 broad.mit.edu 37 10 81272785 81272785 + Missense_Mutation SNP A A G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr10:81272785A>G ENST00000520547.2 + 1 429 c.380A>G c.(379-381)tAc>tGc p.Y127C NM_001099692.1 NP_001093162.1 Q6IS14 IF5AL_HUMAN eukaryotic translation initiation factor 5A-like 1 127 mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport endoplasmic reticulum membrane|nuclear pore ribosome binding|translation elongation factor activity endometrium(1) 1 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GAGCAGAAGTACGACTGTGGA 0.552000 31 47 0 0 0.796494 0 0 HAAO 23498 broad.mit.edu 37 2 43010461 43010461 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr2:43010461C>T ENST00000294973.6 - 4 398 c.343G>A c.(343-345)Ggg>Agg p.G115R NM_012205.2 NP_036337.2 P46952 3HAO_HUMAN 3-hydroxyanthranilate 3,4-dioxygenase 115 Domain A (catalytic) (By similarity). neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process cytosol|soluble fraction 3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2) 11 TACCTGAGCCCATCTAGCTCG 0.582000 3 21 0 0 0.115264 0 0 ZNF692 55657 broad.mit.edu 37 1 249151460 249151460 + Missense_Mutation SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:249151460C>T ENST00000451251.1 - 4 808 c.463G>A c.(463-465)Gag>Aag p.E155K ZNF692_ENST00000366469.5_Missense_Mutation_p.E150K|ZNF692_ENST00000427146.1_Missense_Mutation_p.E150K|ZNF692_ENST00000306601.4_Missense_Mutation_p.E150K|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Missense_Mutation_p.E150K NM_001136036.2 NP_001129508.1 Q9BU19 ZN692_HUMAN zinc finger protein 692 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CTCGTGGCCTCGGAACACCAA 0.537000 41 61 0 0 0.834066 0 0 RBM22 55696 broad.mit.edu 37 5 150071443 150071443 + Splice_Site SNP C C A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr5:150071443C>A ENST00000199814.4 - 11 1254 c.1132_splice c.e11-1 p.G378_splice RBM22_ENST00000540000.1_Splice_Site_p.G329_splice|RBM22_ENST00000447771.2_Splice_Site_p.G329_splice NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 378 Pro-rich. protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGCCCAAAACCTGCAGATAC 0.483000 39 50 4.92203e-23 5.73558e-23 0.819951 1 0 PDZRN4 29951 broad.mit.edu 37 12 41967638 41967638 + Missense_Mutation SNP G G C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr12:41967638G>C ENST00000298919.7 + 10 2665 c.2277G>C c.(2275-2277)aaG>aaC p.K759N PDZRN4_ENST00000539469.2_Missense_Mutation_p.K761N|PDZRN4_ENST00000402685.2_Missense_Mutation_p.K1019N Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 1019 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) ATGGGGCCAAGTCTCCAGATG 0.428000 12 41 0 0 0.435327 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354353 28354353 + Missense_Mutation SNP T T G rs1794256 by1000genomes TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr16:28354353T>G ENST00000532254.1 - 7 1538 c.853A>C c.(853-855)Act>Cct p.T285P NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P nuclear pore complex interacting protein family, member B6 p.T285P(4) AGACACTCAGTAGGTGTCTTG 0.507000 3 26 0 0 0.184627 0 0 RTN1 6252 broad.mit.edu 37 14 60069841 60069841 + Splice_Site SNP C C A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr14:60069841C>A ENST00000267484.5 - 8 2565 c.2229_splice c.e8-1 p.A744_splice RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Splice_Site_p.A161_splice|RTN1_ENST00000342503.4_Splice_Site_p.A176_splice NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 744 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TCAATCTGTGCCTACATAAAG 0.363000 17 24 0.000422831 0.000438377 0.500413 1 0 ATP6V0A2 23545 broad.mit.edu 37 12 124218515 124218515 + Missense_Mutation SNP G G C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr12:124218515G>C ENST00000330342.3 + 7 939 c.691G>C c.(691-693)Gga>Cga p.G231R NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 231 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) ATCCTTTTGGGGAGAGCAGAT 0.328000 38 95 0 0 0.859065 0 0 OR2J2 26707 broad.mit.edu 37 6 29141716 29141716 + Missense_Mutation SNP C C A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr6:29141716C>A ENST00000377167.2 + 1 406 c.304C>A c.(304-306)Ctt>Att p.L102I NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CATGGTTCAACTTTACTTTGT 0.473000 13 179 4.26978e-12 4.77808e-12 0.654019 1 0 SEPHS2 22928 broad.mit.edu 37 16 30455759 30455759 + Silent SNP G G T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr16:30455759G>T ENST00000478753.2 - 1 1743 c.1290C>A c.(1288-1290)gcC>gcA p.A430A SEPHS2_ENST00000542752.1_Silent_p.A373A|SEPHS2_ENST00000500504.2_Silent_p.A430A Q99611 SPS2_HUMAN selenophosphate synthetase 2 430 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 CAGCAGCTGTGGCCCCACGAG 0.527000 18 40 5.26018e-13 5.93348e-13 0.608945 1 0 CNKSR2 22866 broad.mit.edu 37 X 21519646 21519646 + Silent SNP A A C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:21519646A>C ENST00000425654.2 + 8 1230 c.750A>C c.(748-750)gcA>gcC p.A250A CNKSR2_ENST00000379510.3_Silent_p.A250A|CNKSR2_ENST00000279451.4_Silent_p.A250A|CNKSR2_ENST00000543067.1_Silent_p.A250A NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 250 PDZ. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AGTCACCTGCAGATCGGTGCA 0.343000 10 28 0 0 0.411799 0 0 HUWE1 10075 broad.mit.edu 37 X 53563622 53563622 + Missense_Mutation SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:53563622T>C ENST00000342160.3 - 78 12601 c.12144A>G c.(12142-12144)atA>atG p.I4048M HUWE1_ENST00000262854.6_Missense_Mutation_p.I4048M Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4048 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CTTCAAATACTATATACCTGC 0.463000 6 32 0 0 0.248553 0 0 HTATIP2 10553 broad.mit.edu 37 11 20403771 20403771 + Silent SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:20403771T>C ENST00000451739.2 + 4 930 c.489T>C c.(487-489)tcT>tcC p.S163S HTATIP2_ENST00000443524.2_Silent_p.S163S|HTATIP2_ENST00000531058.1_Silent_p.S117S|HTATIP2_ENST00000419348.2_Silent_p.S197S|HTATIP2_ENST00000421577.2_Silent_p.S163S NM_001098522.1 NP_001091992.1 Q9BUP3 HTAI2_HUMAN HIV-1 Tat interactive protein 2, 30kDa 163 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 ATCGTTACTCTGTATTTAGGC 0.358000 21 39 0 0 0.654019 0 0 DAK 26007 broad.mit.edu 37 11 61109346 61109346 + Missense_Mutation SNP C C A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:61109346C>A ENST00000394900.3 + 7 846 c.617C>A c.(616-618)aCc>aAc p.T206N NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 206 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 TCCAAACCCACCTTCGAGCTC 0.592000 39 89 1.49673e-21 1.71577e-21 0.819951 1 0 CHID1 66005 broad.mit.edu 37 11 870149 870149 + Missense_Mutation SNP C C G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:870149C>G ENST00000449825.1 - 12 1411 c.1055G>C c.(1054-1056)aGg>aCg p.R352T CHID1_ENST00000528581.1_Missense_Mutation_p.R377T|CHID1_ENST00000323541.7_Missense_Mutation_p.R382T|CHID1_ENST00000436108.2_Missense_Mutation_p.R352T|CHID1_ENST00000429789.2_Missense_Mutation_p.R321T|CHID1_ENST00000336845.5_Missense_Mutation_p.R377T|CHID1_ENST00000323578.8_Missense_Mutation_p.R352T|CHID1_ENST00000454838.2_Missense_Mutation_p.R377T NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 352 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) GACGACGTGCCTCCCACTGCG 0.667000 21 90 0 0 0.608945 0 0 DNAH2 146754 broad.mit.edu 37 17 7721011 7721011 + Missense_Mutation SNP G G A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr17:7721011G>A ENST00000572933.1 + 66 11613 c.10153G>A c.(10153-10155)Gtc>Atc p.V3385I DNAH2_ENST00000389173.2_Missense_Mutation_p.V3385I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3385 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGCATCATCGTCACCCGAGG 0.597000 10 89 0 0 0.361761 0 0 DDX31 64794 broad.mit.edu 37 9 135535153 135535153 + Missense_Mutation SNP C C G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr9:135535153C>G ENST00000372159.3 - 5 933 c.782G>C c.(781-783)aGt>aCt p.S261T DDX31_ENST00000438527.3_Missense_Mutation_p.S132T|DDX31_ENST00000372153.1_Missense_Mutation_p.S261T|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.S261T NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 261 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) CACAGGAATACTTTGCTTCTG 0.488000 6 13 0 0 0.217242 0 0 TENM1 10178 broad.mit.edu 37 X 123517773 123517773 + Missense_Mutation SNP G G T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:123517773G>T ENST00000422452.2 - 30 7071 c.7008C>A c.(7006-7008)agC>agA p.S2336R STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.S2329R NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CCTGACCTCGGCTGCTGAACA 0.433000 41 65 2.35958e-20 2.68308e-20 0.847076 1 0 CROCCP2 84809 broad.mit.edu 37 1 16959698 16959698 + RNA SNP G G A rs9730434 by1000genomes TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:16959698G>A ENST00000412962.1 - 0 74 p.H56H(4) GGTCCTTCTCGTGGAGCACCT 0.657000 5 44 0 0 0.184627 0 0 WDR5 11091 broad.mit.edu 37 9 137007499 137007499 + Missense_Mutation SNP T T G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr9:137007499T>G ENST00000358625.3 + 6 570 c.399T>G c.(397-399)ttT>ttG p.F133L WDR5_ENST00000425041.1_Missense_Mutation_p.F133L NM_017588.2 NP_060058.1 P61964 WDR5_HUMAN WD repeat domain 5 133 Important for interaction with histone H3. histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) ATTATGTCTTTTGCTGCAACT 0.473000 22 57 0 0 0.654019 0 0 WASH6P 653440 broad.mit.edu 37 X 155254706 155254706 + RNA SNP C C T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:155254706C>T ENST00000285718.7 + 0 1151 WASH6P_ENST00000461007.1_RNA p.T415M(2) GTGAGAGCCACGAGCCAAGGT 0.637000 4 6 0 0 0.150653 0 0 ADAM20 8748 broad.mit.edu 37 14 70991488 70991488 + Missense_Mutation SNP T T G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr14:70991488T>G ENST00000256389.3 - 2 381 c.137A>C c.(136-138)aAt>aCt p.N46T RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 0 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GAAGCTGTCATTATGGAGCCA 0.527000 41 62 0 0 0.834066 0 0 COL1A2 1278 broad.mit.edu 37 7 94029506 94029506 + Splice_Site SNP A A T rs113180440 TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr7:94029506A>T ENST00000297268.6 + 5 603 c.e5-1 NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTTACATAACAGGGTCCACCA 0.532000 HNSCC(75;0.22) 42 90 0 0 0.859065 0 0 MT-ND4 4538 broad.mit.edu 37 MT 12005 12005 + Missense_Mutation SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrM:12005T>C ENST00000361381.2 + 1 1246 c.1246T>C c.(1246-1248)Tgg>Cgg p.416_416insR mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CCACAACACAATGGGGCTCAC 0.443000 2 0 0 0 0.115264 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 101 0 0 0.150653 0 0 MTA3 57504 broad.mit.edu 37 2 42924943 42924943 + Missense_Mutation SNP A A T TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr2:42924943A>T ENST00000405592.1 + 12 1496 c.826A>T c.(826-828)Agt>Tgt p.S276C MTA3_ENST00000405094.1_Missense_Mutation_p.S332C|MTA3_ENST00000407270.3_Missense_Mutation_p.S332C|MTA3_ENST00000406652.1_Missense_Mutation_p.S276C|MTA3_ENST00000406911.1_Missense_Mutation_p.S332C|MTA3_ENST00000472767.1_3'UTR Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 332 SANT. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1) 15 AGAAGCTGAGAGTAAACTGAA 0.264000 5 7 0 0 0.184627 0 0 SNHG12 85028 broad.mit.edu 37 1 28906820 28906820 + RNA DEL A A - rs11325748 TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:28906820delA ENST00000488745.1 - 0 1100 SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA actccgtctcaaaaaaaaaaa 0.493 3 3 --- --- --- --- DUSP12 11266 broad.mit.edu 37 1 161722158 161722158 + Splice_Site DEL A A - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr1:161722158delA ENST00000367943.4 + 4 610 c.577_splice c.e4-1 p.E193_splice DUSP12_ENST00000484291.1_3'UTR NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 193 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) TGTCATATAGAATTGCAGAAT 0.338 36 100 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52651547 52651548 + Frame_Shift_Del DEL TC TC - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr3:52651547_52651548delTC ENST00000356770.4 - 13 1454_1455 c.1452_1453delGA c.(1450-1455)aaacfs p.KN484fs PBRM1_ENST00000394830.3_Frame_Shift_Del_p.KN516fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.KN516fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.KN531fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.KN516fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.KN516fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.KN531fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.KN516fs Q86U86 PB1_HUMAN polybromo 1 516 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TTTCTTATGTTCTTTTTACTGT 0.351 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 30 23 --- --- --- --- TFRC 7037 broad.mit.edu 37 3 195794940 195794941 + In_Frame_Ins INS - - ATT TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr3:195794940_195794941insATT ENST00000360110.4 - 8 1031_1032 c.862_863insAAT c.(862-864)tcc>AATtcc p.287_288insN TFRC_ENST00000535031.1_In_Frame_Ins_p.5_6insN|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_In_Frame_Ins_p.206_207insN|TFRC_ENST00000392396.3_In_Frame_Ins_p.287_288insN NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 287 PA. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AACAATGGGAAATTTAGTCTGG 0.347 T BCL6 NHL 59 35 --- --- --- --- TAPT1-AS1 202020 broad.mit.edu 37 4 16257878 16257878 + RNA DEL A A - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr4:16257878delA ENST00000570786.1 + 0 234 TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA NR_027696.1 TTTTTTTTTTAGGTTTTCACT 0.378 2 4 --- --- --- --- RASGRF2 5924 broad.mit.edu 37 5 80381640 80381640 + Frame_Shift_Del DEL C C - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr5:80381640delC ENST00000265080.4 + 8 1248 c.1181delC c.(1180-1182)aafs p.T394fs RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 394 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TATATCATCACACTCCATGAG 0.502 32 103 --- --- --- --- MCTP1 79772 broad.mit.edu 37 5 94207041 94207041 + Frame_Shift_Del DEL T T - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr5:94207041delT ENST00000515393.1 - 14 2117 c.2118delA c.(2116-2118)aafs p.K706fs MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K222fs|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K439fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K485fs|MCTP1_ENST00000505208.1_Frame_Shift_Del_p.K485fs NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 706 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) GTATAGCAACTTTGCCCAGAA 0.358 34 94 --- --- --- --- SLC23A1 9963 broad.mit.edu 37 5 138707769 138707769 + Frame_Shift_Del DEL A A - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr5:138707769delA ENST00000353963.3 - 14 1773 c.1735delT c.(1735-1737)cafs p.S579fs SLC23A1_ENST00000348729.3_Frame_Shift_Del_p.S575fs NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 575 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) TGATCTTTTGAACTTGAAGAA 0.398 172 181 --- --- --- --- TBC1D9B 23061 broad.mit.edu 37 5 179291015 179291015 + Frame_Shift_Del DEL T T - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr5:179291015delT ENST00000356834.3 - 22 3223 c.3186delA c.(3184-3186)ggfs p.G1062fs TBC1D9B_ENST00000444477.2_Frame_Shift_Del_p.G203fs|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Frame_Shift_Del_p.G1045fs|TBC1D9B_ENST00000519746.1_Frame_Shift_Del_p.G221fs NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 1062 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCCCACCTCTCCGATGCGGA 0.617 49 56 --- --- --- --- IL20RA 53832 broad.mit.edu 37 6 137322979 137322979 + Frame_Shift_Del DEL G G - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr6:137322979delG ENST00000367748.1 - 6 1631 c.1045delC c.(1045-1047)tgfs p.L349fs IL20RA_ENST00000541547.1_Frame_Shift_Del_p.L411fs|IL20RA_ENST00000316649.5_Frame_Shift_Del_p.L460fs Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 460 integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) TCCTGCGCCAGGGGGTCTAAG 0.587 29 98 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100352939 100352939 + RNA DEL A A - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr7:100352939delA ENST00000542585.1 + 0 3363 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTCTGTCGGGAGGGCTGTGTC 0.557 62 136 --- --- --- --- INTS4 92105 broad.mit.edu 37 11 77672030 77672030 + Frame_Shift_Del DEL G G - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr11:77672030delG ENST00000534064.1 - 5 660 c.626delC c.(625-627)cafs p.P209fs INTS4_ENST00000529807.1_Frame_Shift_Del_p.P209fs NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 209 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) TCTGACACGTGGGTCTTGGTC 0.408 85 179 --- --- --- --- TENC1 23371 broad.mit.edu 37 12 53452893 53452893 + Frame_Shift_Del DEL C C - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr12:53452893delC ENST00000314250.6 + 18 1758 c.1468delC c.(1468-1470)ccfs p.P490fs TENC1_ENST00000314276.3_Frame_Shift_Del_p.P500fs|TENC1_ENST00000451358.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000546602.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000379902.3_Frame_Shift_Del_p.P366fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.P490fs NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 490 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 GCAGCGGCCTCCCCGGCAGAC 0.682 17 43 --- --- --- --- MAX 4149 broad.mit.edu 37 14 65544727 65544727 + Frame_Shift_Del DEL C C - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr14:65544727delC ENST00000284165.6 - 4 347 c.199delG c.(199-201)ccfs p.A67fs MAX_ENST00000557746.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000358664.4_Frame_Shift_Del_p.A67fs|MAX_ENST00000556443.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000358402.4_Frame_Shift_Del_p.A58fs|MAX_ENST00000555419.1_Frame_Shift_Del_p.A31fs|MAX_ENST00000556979.1_Frame_Shift_Del_p.A67fs|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000341653.2_Intron NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 67 Helix-loop-helix motif. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) TATTCTGTGGCTTTGTCTAGG 0.493 19 42 --- --- --- --- YLPM1 56252 broad.mit.edu 37 14 75230946 75230947 + Frame_Shift_Ins INS - - C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr14:75230946_75230947insC ENST00000325680.7 + 1 878_879 c.754_755insC c.(754-756)cccfs p.P252fs YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P252fs|YLPM1_ENST00000238571.3_Frame_Shift_Ins_p.P252fs NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ACCACCGTCCGCCCCCCCTGGA 0.579 18 27 --- --- --- --- MCTP2 55784 broad.mit.edu 37 15 94942208 94942208 + Frame_Shift_Del DEL A A - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr15:94942208delA ENST00000357742.4 + 14 1807 c.1807delA c.(1807-1809)atfs p.N603fs MCTP2_ENST00000557742.1_Frame_Shift_Del_p.N191fs|MCTP2_ENST00000451018.3_Frame_Shift_Del_p.N603fs|MCTP2_ENST00000331706.4_Frame_Shift_Del_p.N191fs NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 603 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TGGACAACCGAATTGTTATGT 0.318 29 57 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 28022532 28022533 + Frame_Shift_Ins INS - - G TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chr17:28022532_28022533insG ENST00000269033.3 - 4 371_372 c.220_221insC c.(220-222)acafs p.T74fs SSH2_ENST00000540801.1_Frame_Shift_Ins_p.T101fs|SSH2_ENST00000324677.7_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 74 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAGATGCTGTTGGAGATCGCCT 0.376 38 74 --- --- --- --- THOC2 57187 broad.mit.edu 37 X 122748006 122748007 + Frame_Shift_Ins INS - - TGGACAGTGG TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:122748006_122748007insTGGACAGTGG ENST00000245838.8 - 34 4376_4377 c.4345_4346insCCACTGTCCA c.(4345-4347)gagfs p.E1449fs THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.E1334fs|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.E1449fs NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1449 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 CTCCTTACTCTTGGACAGTGGT 0.361 17 158 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123200270 123200280 + Frame_Shift_Del DEL AAAGCAGCTCT AAAGCAGCTCT - TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bb18fc9-538b-4f01-8fd2-627e55dfd2e4 a8477a84-8b4d-4260-931a-35d03d574e09 g.chrX:123200270_123200280delAAAGCAGCTCT ENST00000371160.1 + 23 2539_2549 c.2249_2259delAAAGCAGCTCT c.(2248-2259)gfs p.ESSS750fs STAG2_ENST00000354548.5_Frame_Shift_Del_p.ESSS681fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.ESSS750fs Q8N3U4 STAG2_HUMAN stromal antigen 2 750 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 AAGATAACTGAAAGCAGCTCTACAAAGGTTT 0.327 18 78 --- --- --- ---