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 APOA1 335 broad.mit.edu 37 11 116707812 116707812 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:116707812C>T ENST00000236850.4 - 3 470 c.105G>A c.(103-105)gtG>gtA p.V35V APOA1_ENST00000375329.2_Intron|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000359492.2_Silent_p.V35V|APOA1_ENST00000375320.1_Silent_p.V35V|APOA1_ENST00000375323.1_Silent_p.V35V NM_000039.1 NP_000030.1 P02647 APOA1_HUMAN apolipoprotein A-I 35 Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2) 9 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCAGGTCCTTCACTCGATCCC 0.587000 11 78 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122845721 122845721 + Nonsense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:122845721G>A ENST00000358808.2 - 5 944 c.790C>T c.(790-792)Cag>Tag p.Q264* CLIP1_ENST00000540338.1_Nonsense_Mutation_p.Q264*|CLIP1_ENST00000545889.1_5'UTR|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.Q264*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.Q264*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.Q264* NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 264 CAP-Gly 2. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GGTTGACACTGAAAATACCTT 0.403000 5 21 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60650687 60650687 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:60650687G>C ENST00000582809.1 + 13 1336 c.633G>C c.(631-633)caG>caC p.Q211H TLK2_ENST00000326270.9_Missense_Mutation_p.Q360H|TLK2_ENST00000343388.7_Missense_Mutation_p.Q328H|TLK2_ENST00000542523.1_Missense_Mutation_p.Q328H|TLK2_ENST00000346027.5_Missense_Mutation_p.Q360H Q86UE8 TLK2_HUMAN tousled-like kinase 2 360 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 CCAATGAGCAGAAACAGCGGA 0.468000 8 21 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86297203 86297203 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:86297203C>T ENST00000263857.6 - 13 2182 c.1804G>A c.(1804-1806)Gag>Aag p.E602K POLR1A_ENST00000409681.1_Missense_Mutation_p.E602K O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 602 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CGGCCCAGCTCACTCTGGGGG 0.577000 4 27 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114290002 114290002 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr9:114290002G>C ENST00000309235.5 + 2 485 c.327G>C c.(325-327)agG>agC p.R109S ZNF483_ENST00000358151.4_Missense_Mutation_p.R109S|ZNF483_ENST00000355824.3_Missense_Mutation_p.R109S|ZNF483_ENST00000374374.3_Missense_Mutation_p.R109S NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 109 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 GGGAGATCAGGATTTGGGTAA 0.433000 49 58 0 0 1 0 0 HCN2 610 broad.mit.edu 37 19 613319 613319 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:613319C>T ENST00000251287.2 + 6 1709 c.1656C>T c.(1654-1656)ttC>ttT p.F552F NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 552 cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) ACCCCAACTTCGTCACGGCCA 0.612000 3 16 0 0 1 0 0 AADACL2 344752 broad.mit.edu 37 3 151474906 151474906 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:151474906G>A ENST00000356517.3 + 5 839 c.730G>A c.(730-732)Gat>Aat p.D244N RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 244 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TTTGACCAGGGATGTAGCCAT 0.413000 27 115 0 0 1 0 0 FAM188A 80013 broad.mit.edu 37 10 15821032 15821032 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:15821032C>G ENST00000378036.1 - 6 1588 c.412G>C c.(412-414)Gag>Cag p.E138Q FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.E433Q Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 433 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 CAGAGTAACTCAATGTATGGC 0.398000 6 33 0 0 1 0 0 MACROD2 140733 broad.mit.edu 37 20 14665596 14665596 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr20:14665596C>T ENST00000217246.4 + 5 804 c.409C>T c.(409-411)Cct>Tct p.P137S MACROD2_ENST00000310348.4_Missense_Mutation_p.P137S|MACROD2_ENST00000464883.1_3'UTR NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 137 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) CTATGACCTTCCTGCAAAATG 0.423000 49 60 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164741437 164741437 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:164741437C>G ENST00000264382.3 - 26 3082 c.3020G>C c.(3019-3021)aGa>aCa p.R1007T NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1007 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAACTTTATTCTGGCATTTGC 0.388000 HNSCC(35;0.089) 10 64 0 0 1 0 0 CSNK1G3 1456 broad.mit.edu 37 5 122893236 122893236 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:122893236C>G ENST00000395412.1 + 4 986 c.267C>G c.(265-267)ttC>ttG p.F89L CSNK1G3_ENST00000521364.1_Missense_Mutation_p.F89L|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.F89L|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.F14L|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.F89L|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.F89L|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.F89L|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.F89L Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 89 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) AATACAGATTCTATAAGCAGT 0.299000 22 29 0 0 1 0 0 FAM178A 55719 broad.mit.edu 37 10 102676711 102676711 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:102676711G>A ENST00000238961.4 + 3 1111 c.569G>A c.(568-570)cGa>cAa p.R190Q FAM178A_ENST00000370269.3_Missense_Mutation_p.R190Q|FAM178A_ENST00000370271.3_Missense_Mutation_p.R190Q NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A GATAGAGATCGAGGCAAAACC 0.438000 18 30 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10532938 10532938 + Missense_Mutation SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:10532938C>A ENST00000583535.1 - 40 5859 c.5772G>T c.(5770-5772)aaG>aaT p.K1924N MYH3_ENST00000226209.7_Missense_Mutation_p.K1924N NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1924 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 AGTCTCGAGTCTTAGCGCGGA 0.562000 16 23 1.99824e-07 2.07336e-07 1 1 0 TAX1BP1 8887 broad.mit.edu 37 7 27797661 27797661 + Silent SNP T T C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr7:27797661T>C ENST00000396319.2 + 3 262 c.174T>C c.(172-174)agT>agC p.S58S TAX1BP1_ENST00000409980.1_Silent_p.S58S|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Silent_p.S58S|TAX1BP1_ENST00000543117.1_Silent_p.S58S NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 58 S -> N (in dbSNP:rs7809260). anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) TTGGATGGAGTACTGCTCGTG 0.353000 24 78 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156941516 156941516 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:156941516C>G ENST00000368194.3 - 8 1714 c.675G>C c.(673-675)aaG>aaC p.K225N ARHGEF11_ENST00000361409.2_Intron NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 194 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTGCTGGATCTTCAGCTGTA 0.557000 26 71 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 68 0 0 1 0 0 GTF2F1 2962 broad.mit.edu 37 19 6380608 6380608 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:6380608G>A ENST00000394456.5 - 12 1789 c.1325C>T c.(1324-1326)tCa>tTa p.S442L GTF2F1_ENST00000429701.2_Missense_Mutation_p.S357L NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 442 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 TGTCTTGCCTGATGGTGGCTG 0.637000 10 44 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181759595 181759595 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:181759595G>A ENST00000526775.1 + 43 5909 c.5744G>A c.(5743-5745)gGa>gAa p.G1915E CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1934E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1934E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1885E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1866E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1541E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1915E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1934 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGCCGGAGTGGATACCCTTCG 0.542000 4 35 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119718845 119718845 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr4:119718845G>A ENST00000379735.5 - 8 1308 c.1037C>T c.(1036-1038)tCa>tTa p.S346L SEC24D_ENST00000280551.6_Missense_Mutation_p.S345L|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 345 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TACCTCATTTGAAGGAATGGT 0.323000 14 39 0 0 1 0 0 CCBL2 56267 broad.mit.edu 37 1 89414909 89414909 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:89414909C>G ENST00000260508.4 - 11 1343 c.1006G>C c.(1006-1008)Gaa>Caa p.E336Q CCBL2_ENST00000370491.3_Missense_Mutation_p.E302Q|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR NM_001008661.2 NP_001008661.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 336 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AAGTAACATTCTGGGTCATCC 0.378000 15 22 0 0 1 0 0 HMGCS1 3157 broad.mit.edu 37 5 43291259 43291259 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:43291259C>T ENST00000325110.6 - 11 1743 c.1537G>A c.(1537-1539)Gct>Act p.A513T HMGCS1_ENST00000433297.2_Missense_Mutation_p.A513T NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 513 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 CTAATGACAGCTGCTTCAGGT 0.483000 32 140 0 0 1 0 0 TMEM214 54867 broad.mit.edu 37 2 27261629 27261629 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:27261629G>A ENST00000238788.9 + 12 1415 c.1353G>A c.(1351-1353)ctG>ctA p.L451L TMEM214_ENST00000404032.3_Silent_p.L406L NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 451 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 AGGAGCTGCTGAGGAAGGGTA 0.537000 8 17 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57753379 57753379 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:57753379G>C ENST00000274289.3 - 6 1045 c.745C>G c.(745-747)Cct>Gct p.P249A PLK2_ENST00000502671.1_5'UTR NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 249 Protein kinase. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) AGGACTTCAGGAGAGAGATAA 0.388000 16 38 0 0 1 0 0 HEXIM2 124790 broad.mit.edu 37 17 43246705 43246705 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:43246705G>C ENST00000307275.3 + 4 826 c.390G>C c.(388-390)gaG>gaC p.E130D HEXIM2_ENST00000592695.1_Missense_Mutation_p.E130D|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E130D|RP13-890H12.2_ENST00000589796.1_RNA NM_144608.1 NP_653209.1 Q96MH2 HEXI2_HUMAN hexamethylene bis-acetamide inducible 2 130 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding endometrium(1)|large_intestine(3)|lung(1) 5 TCCGCGAAGAGATGTTCGCCA 0.627000 5 24 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153182047 153182047 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:153182047G>A ENST00000285900.5 + 15 2860 c.2517G>A c.(2515-2517)atG>atA p.M839I GRIA1_ENST00000448073.4_Missense_Mutation_p.M849I|GRIA1_ENST00000518783.1_Missense_Mutation_p.M849I|GRIA1_ENST00000340592.5_Missense_Mutation_p.M839I|GRIA1_ENST00000518142.1_Missense_Mutation_p.M759I|GRIA1_ENST00000521843.2_Missense_Mutation_p.M770I NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 839 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCAAGCGGATGAAGGTGGCAT 0.527000 71 124 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364134 23364134 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:23364134C>G ENST00000343070.2 + 3 500 c.324C>G c.(322-324)atC>atG p.I108M SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568923.1_Missense_Mutation_p.I108M|SCNN1B_ENST00000307331.5_Missense_Mutation_p.I153M|SCNN1B_ENST00000568085.1_Missense_Mutation_p.I108M NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 108 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) ATTCCAAAATCAAGCATTTGC 0.502000 15 53 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30842412 30842412 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:30842412C>T ENST00000454381.3 - 12 1265 c.1219G>A c.(1219-1221)Gaa>Aaa p.E407K GADL1_ENST00000282538.5_Missense_Mutation_p.E407K Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 407 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) TTAACTCTTTCTTCAAGGCCT 0.473000 12 57 0 0 1 0 0 KATNBL1 79768 broad.mit.edu 37 15 34445220 34445220 + Missense_Mutation SNP T T C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr15:34445220T>C ENST00000256544.3 - 4 351 c.209A>G c.(208-210)tAt>tGt p.Y70C NM_024713.2 NP_078989.1 katanin p80 subunit B-like 1 CTTTCTGCGATAGATCACTTT 0.353000 11 117 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54159251 54159251 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chrX:54159251C>G ENST00000375180.2 - 9 1992 c.1936G>C c.(1936-1938)Gag>Cag p.E646Q FAM120C_ENST00000328235.4_Missense_Mutation_p.E646Q NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 646 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GGAGGCAGCTCCATGTTACAC 0.433000 7 7 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73548775 73548775 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:73548775G>C ENST00000224721.6 + 44 5919 c.5914G>C c.(5914-5916)Gag>Cag p.E1972Q NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1967 Cadherin 19. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CTACCAGGCAGAGGTGATGGA 0.577000 6 23 0 0 1 0 0 FCHSD2 9873 broad.mit.edu 37 11 72551973 72551973 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:72551973G>A ENST00000409314.1 - 20 2328 c.2160C>T c.(2158-2160)ttC>ttT p.F720F FCHSD2_ENST00000311172.7_Silent_p.F640F|FCHSD2_ENST00000458644.2_Silent_p.F560F|FCHSD2_ENST00000409418.4_Silent_p.F696F|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409263.1_Silent_p.F57F O94868 FCSD2_HUMAN FCH and double SH3 domains 2 696 Poly-Pro. protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) ATGCCTGTGAGAATCCTGGTG 0.433000 9 28 0 0 1 0 0 SUPT3H 8464 broad.mit.edu 37 6 44929520 44929520 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:44929520C>T ENST00000371460.1 - 9 900 c.583G>A c.(583-585)Gaa>Aaa p.E195K SUPT3H_ENST00000371461.2_Missense_Mutation_p.E195K|SUPT3H_ENST00000371459.1_Missense_Mutation_p.E184K|SUPT3H_ENST00000306867.5_Missense_Mutation_p.E184K NM_181356.2 NP_852001.1 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog (S. cerevisiae) 266 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 TCACAGAATTCTGCATATTGA 0.269000 10 36 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798378 160798378 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:160798378G>A ENST00000283243.7 - 30 4509 c.4303C>T c.(4303-4305)Cgg>Tgg p.R1435W PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1435 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TAAGGATTCCGAAACCCTGCA 0.398000 3 20 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 3 27 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583560 7583560 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:7583560C>G ENST00000379802.3 + 24 6406 c.6065C>G c.(6064-6066)tCt>tGt p.S2022C DSP_ENST00000418664.2_Missense_Mutation_p.S1423C NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2022 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCTGGAGCATCTGCTTCTCCT 0.473000 13 46 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131370143 131370143 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr9:131370143G>A ENST00000372739.3 + 33 4269 c.4159G>A c.(4159-4161)Gaa>Aaa p.E1387K SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1387K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1387K NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1387 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 ACACCGGACAGAAATCGATGC 0.542000 15 48 0 0 1 0 0 TAPBP 6892 broad.mit.edu 37 6 33281050 33281050 + Missense_Mutation SNP A A C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:33281050A>C ENST00000434618.2 - 3 758 c.413T>G c.(412-414)cTc>cGc p.L138R TAPBP_ENST00000456592.2_Missense_Mutation_p.L138R|TAPBP_ENST00000426633.2_Missense_Mutation_p.L138R|TAPBP_ENST00000475304.1_Missense_Mutation_p.L138R|TAPBP_ENST00000489157.1_Intron NM_003190.4|NM_172209.2 NP_003181.3|NP_757346.2 O15533 TPSN_HUMAN TAP binding protein (tapasin) 138 antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 TGGTCGCAAGAGGCTGGAGAG 0.642000 22 41 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21174067 21174067 + Silent SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr22:21174067G>T ENST00000255882.6 - 6 737 c.651C>A c.(649-651)ctC>ctA p.L217L PI4KA_ENST00000572273.1_Silent_p.L159L NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 159 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCAGGACACGGAGGGAATGAG 0.527000 33 103 1.36161e-19 1.47955e-19 1 1 0 MS4A1 931 broad.mit.edu 37 11 60230520 60230520 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:60230520C>T ENST00000534668.1 + 3 494 c.205C>T c.(205-207)Ctt>Ttt p.L69F MS4A1_ENST00000389939.2_Missense_Mutation_p.L69F|MS4A1_ENST00000532073.1_Missense_Mutation_p.L69F|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Missense_Mutation_p.L69F|MS4A1_ENST00000528313.1_Intron NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 69 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) CCTGGGGGGTCTTCTGATGAT 0.522000 25 77 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20828231 20828231 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:20828231C>T ENST00000291750.6 - 4 399 c.250G>A c.(250-252)Gag>Aag p.E84K CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000601440.1_Intron NM_145297.3 NP_660340.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 ctttggctctcactgtgaact 0.373000 11 29 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42032370 42032370 + Silent SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr15:42032370G>C ENST00000219905.7 + 14 4735 c.4554G>C c.(4552-4554)ctG>ctC p.L1518L MGA_ENST00000570161.1_Silent_p.L1518L|MGA_ENST00000566586.1_Silent_p.L1518L|MGA_ENST00000389936.4_Silent_p.L1518L|MGA_ENST00000545763.1_Silent_p.L1518L NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1518 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GGAAGAATCTGAAGGCGTTTG 0.507000 13 23 0 0 1 0 0 CLEC18B 497190 broad.mit.edu 37 16 74452041 74452041 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:74452041G>A ENST00000339953.5 - 3 493 c.372C>T c.(370-372)gtC>gtT p.V124V NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 124 SCP. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 ACCACAGGCTGACCACTTCAA 0.662000 11 38 0 0 1 0 0 CMTR1 23070 broad.mit.edu 37 6 37445393 37445393 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:37445393G>A ENST00000373451.4 + 21 2295 c.2131G>A c.(2131-2133)Gag>Aag p.E711K NM_015050.2 NP_055865.1 cap methyltransferase 1 711 CAGACTGGAAGAGATGGAGAA 0.552000 28 151 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48807271 48807271 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:48807271G>A ENST00000315396.7 - 7 1363 c.681C>T c.(679-681)ctC>ctT p.L227L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 227 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TCTTGAGCTTGAGGAAGTGGT 0.632000 18 96 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54133982 54133982 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:54133982G>A ENST00000404125.1 - 25 2863 c.2808C>T c.(2806-2808)atC>atT p.I936I PSME4_ENST00000421748.2_Silent_p.I80I NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 936 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ACAGTGCTCTGATATGTTGTT 0.323000 7 43 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 58 0 0 1 0 0 OR51B2 79345 broad.mit.edu 37 11 5345000 5345000 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:5345000G>A ENST00000328813.2 - 1 582 c.528C>T c.(526-528)ttC>ttT p.F176F HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGGAGGCAGAAAGCACGTG 0.388000 15 56 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24724456 24724456 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr14:24724456G>A ENST00000206765.6 - 12 1772 c.1649C>T c.(1648-1650)tCa>tTa p.S550L TGM1_ENST00000544573.1_Missense_Mutation_p.S108L NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 550 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CTCTGCGTCTGAGCCTGGGGG 0.617000 9 50 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088025 86088025 + Nonsense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr14:86088025C>G ENST00000330753.4 + 2 934 c.167C>G c.(166-168)tCa>tGa p.S56* FLRT2_ENST00000554746.1_Nonsense_Mutation_p.S56* NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 56 LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) AGCTTGACCTCAGTGCCTCTT 0.522000 29 69 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 57994444 57994444 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:57994444C>T ENST00000357272.4 + 1 318 c.153C>T c.(151-153)atC>atT p.I51I FLNB_ENST00000358537.3_Silent_p.I51I|FLNB_ENST00000348383.5_Silent_p.I51I|FLNB_ENST00000295956.4_Silent_p.I51I|FLNB_ENST00000490882.1_Silent_p.I51I|FLNB_ENST00000429972.2_Silent_p.I51I O75369 FLNB_HUMAN filamin B, beta 51 Actin-binding.|CH 1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TGCGGCTCATCGCGCTGCTCG 0.617000 14 65 0 0 1 0 0 KRT77 374454 broad.mit.edu 37 12 53097197 53097197 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:53097197G>C ENST00000341809.3 - 1 50 c.22C>G c.(22-24)Cag>Gag p.Q8E KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 8 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 AACGCGGACTGAGAACTAAAT 0.537000 5 31 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14746055 14746055 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:14746055C>G ENST00000253697.3 + 7 1542 c.1090C>G c.(1090-1092)Caa>Gaa p.Q364E C3orf20_ENST00000435614.1_Missense_Mutation_p.Q242E|C3orf20_ENST00000412910.1_Missense_Mutation_p.Q242E|C3orf20_ENST00000495387.1_3'UTR NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 364 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 TCAGCATTGTCAAGAGGGGAA 0.498000 26 171 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52537586 52537586 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr15:52537586C>G ENST00000261839.7 - 18 2304 c.2143G>C c.(2143-2145)Gag>Cag p.E715Q MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 715 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TTGCACACCTCCTTTTTATCG 0.488000 20 118 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31246218 31246218 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:31246218G>A ENST00000407793.2 + 12 1580 c.1329G>A c.(1327-1329)caG>caA p.Q443Q DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000228264.6_Silent_p.Q417Q|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.Q443Q|DDX11_ENST00000542838.1_Silent_p.Q443Q|DDX11_ENST00000545668.1_Silent_p.Q443Q NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 443 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) ACCTGAAGCAGATCCTGTATT 0.582000 Multiple Myeloma(12;0.14) 7 24 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71668455 71668455 + Missense_Mutation SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:71668455C>A ENST00000268485.3 + 3 999 c.955C>A c.(955-957)Ccg>Acg p.P319T MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron NM_052858.4 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 319 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) GGGGTACATCCCGGCCTTGTA 0.572000 6 35 0.00116845 0.00117697 1 1 0 NCAPH2 29781 broad.mit.edu 37 22 50956471 50956471 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr22:50956471C>T ENST00000395701.3 + 6 584 c.490C>T c.(490-492)Ccc>Tcc p.P164S NCAPH2_ENST00000395698.3_Missense_Mutation_p.P164S|NCAPH2_ENST00000299821.11_Missense_Mutation_p.P164S|NCAPH2_ENST00000420993.2_Missense_Mutation_p.P164S Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 164 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) GAACAACAATCCCCTGTACAG 0.622000 9 29 0 0 1 0 0 ALG12 79087 broad.mit.edu 37 22 50303672 50303672 + Silent SNP G G A rs139916198 TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr22:50303672G>A ENST00000330817.6 - 5 807 c.534C>T c.(532-534)ttC>ttT p.F178F NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) CGATGATGGCGAAGGCTGACA 0.642000 7 15 0 0 1 0 0 IL2RG 3561 broad.mit.edu 37 X 70329170 70329170 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chrX:70329170C>T ENST00000374202.2 - 5 756 c.665G>A c.(664-666)cGt>cAt p.R222H IL2RG_ENST00000456850.2_Missense_Mutation_p.R32H NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 222 Fibronectin type-III. R -> C (in XCID). immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GCTCCGAACACGAAACGTGTA 0.483000 Severe Combined Immunodeficiency, X-linked 16 21 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142261518 142261518 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:142261518C>T ENST00000350721.4 - 17 3560 c.3439G>A c.(3439-3441)Gat>Aat p.D1147N ATR_ENST00000383101.3_Missense_Mutation_p.D1083N NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1147 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ATTTTCTTATCTTCAATGCCA 0.333000 Other conserved DNA damage response genes 4 25 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578392 7578392 + Nonsense_Mutation SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:7578392C>A ENST00000420246.2 - 5 670 c.538G>T c.(538-540)Gag>Tag p.E180* TP53_ENST00000445888.2_Nonsense_Mutation_p.E180*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E180*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E180*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E180*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.E180* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 180 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E180*(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E180fs*6(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAGCAGCGCTCATGGTGGGGG 0.637000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 37 1.3612e-06 1.40709e-06 1 1 0 SCNN1B 6338 broad.mit.edu 37 16 23364263 23364263 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:23364263C>T ENST00000343070.2 + 3 629 c.453C>T c.(451-453)gtC>gtT p.V151V SCNN1B_ENST00000568923.1_Silent_p.V151V|SCNN1B_ENST00000307331.5_Silent_p.V196V|SCNN1B_ENST00000568085.1_Silent_p.V151V NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 151 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CACCCCTGGTCCTTATTGATG 0.512000 16 73 0 0 1 0 0 GPR68 8111 broad.mit.edu 37 14 91701405 91701405 + Nonsense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr14:91701405G>C ENST00000238699.3 - 2 284 c.20C>G c.(19-21)tCa>tGa p.S7* GPR68_ENST00000531499.2_5'UTR|GPR68_ENST00000535815.1_5'UTR NM_003485.3 NP_003476.3 Q15743 OGR1_HUMAN G protein-coupled receptor 68 0 inflammatory response integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 8 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) CTTTGGGCCTGAAGGGGCCAC 0.577000 13 29 0 0 1 0 0 LOC150776 150776 broad.mit.edu 37 2 132257818 132257818 + RNA SNP C C T rs36063185 TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:132257818C>T ENST00000438378.2 + 0 541 NR_026922.1 AGAGCATTTTCGGCAGCCTAG 0.582000 3 16 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111962879 111962879 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:111962879G>A ENST00000305815.5 - 11 1494 c.1242C>T c.(1240-1242)gtC>gtT p.V414V SLC9C1_ENST00000487372.1_Silent_p.V366V NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 414 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TAAATCTATTGACAACAAGGG 0.318000 10 43 0 0 1 0 0 KCTD21 283219 broad.mit.edu 37 11 77885384 77885384 + Missense_Mutation SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:77885384C>A ENST00000340067.3 - 2 495 c.217G>T c.(217-219)Gac>Tac p.D73Y KCTD21-AS1_ENST00000600795.1_RNA NM_001029859.1 NP_001025030.1 Q4G0X4 KCD21_HUMAN potassium channel tetramerization domain containing 21 73 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2) 11 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) TCCTGGAAGTCCTCAGGCAGG 0.602000 14 35 9.31168e-06 9.48348e-06 1 1 0 ASRGL1 80150 broad.mit.edu 37 11 62156681 62156681 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:62156681G>A ENST00000415229.2 + 5 783 c.568G>A c.(568-570)Gtt>Att p.V190I ASRGL1_ENST00000301776.5_Missense_Mutation_p.V190I|ASRGL1_ENST00000535727.1_Missense_Mutation_p.V62I NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 190 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) AGGCGGTATCGTTAATAAAAT 0.537000 25 83 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62784646 62784646 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:62784646G>A ENST00000280377.5 + 15 1905 c.1847G>A c.(1846-1848)cGa>cAa p.R616Q USP15_ENST00000393654.3_Missense_Mutation_p.R591Q|USP15_ENST00000353364.3_Missense_Mutation_p.R587Q NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 616 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TACTTAAGCCGATATGTCAAA 0.313000 5 22 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26698278 26698278 + Silent SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:26698278C>G ENST00000272371.2 - 25 3201 c.3075G>C c.(3073-3075)ctG>ctC p.L1025L OTOF_ENST00000403946.3_Silent_p.L1025L|OTOF_ENST00000338581.6_Silent_p.L278L|OTOF_ENST00000402415.3_Silent_p.L335L|OTOF_ENST00000339598.3_Silent_p.L278L NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1025 C2 3. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATCGTCCCTCAGCTCATGAG 0.577000 8 44 0 0 1 0 0 GTF2F1 2962 broad.mit.edu 37 19 6389523 6389523 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:6389523G>A ENST00000394456.5 - 4 722 c.258C>T c.(256-258)atC>atT p.I86I GTF2F1_ENST00000429701.2_Silent_p.I58I|CTB-180A7.6_ENST00000599584.1_RNA NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 86 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 CCTTGAGGACGATGCCGTACT 0.617000 35 155 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42264837 42264837 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:42264837G>A ENST00000327628.5 + 16 2870 c.2470G>A c.(2470-2472)Gaa>Aaa p.E824K TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.E766K NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 824 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 GGAAGTGAGAGAAAAGAACGT 0.572000 3 27 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127654688 127654688 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:127654688C>G ENST00000508053.1 - 41 5451 c.4477G>C c.(4477-4479)Gat>Cat p.D1493H FBN2_ENST00000262464.4_Missense_Mutation_p.D1493H P35556 FBN2_HUMAN fibrillin 2 1493 EGF-like 25; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GAGCATTCATCAATATCTGAA 0.328000 16 59 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31418942 31418942 + Missense_Mutation SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:31418942G>T ENST00000389202.2 + 8 860 c.811G>T c.(811-813)Gtc>Ttc p.V271F NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 271 VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ATACAGTGATGTCATCCCCCA 0.542000 14 32 1.36491e-13 1.46014e-13 1 1 0 SPTAN1 6709 broad.mit.edu 37 9 131374459 131374459 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr9:131374459G>A ENST00000372739.3 + 39 5087 c.4977G>A c.(4975-4977)ctG>ctA p.L1659L SPTAN1_ENST00000372731.4_Silent_p.L1654L|SPTAN1_ENST00000358161.5_Silent_p.L1659L NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1654 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GCCAGAAACTGAAAGAAGCCA 0.522000 33 63 0 0 1 0 0 WDSUB1 151525 broad.mit.edu 37 2 160139395 160139395 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:160139395G>C ENST00000409990.3 - 2 442 c.186C>G c.(184-186)ttC>ttG p.F62L WDSUB1_ENST00000358147.4_Missense_Mutation_p.F62L|WDSUB1_ENST00000409124.1_Missense_Mutation_p.F62L|WDSUB1_ENST00000392796.3_Missense_Mutation_p.F62L|WDSUB1_ENST00000359774.4_Missense_Mutation_p.F62L NM_001128213.1 NP_001121685 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain containing 1 62 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3) 16 CTGAAGGGGAGAAACAGCAGC 0.453000 19 42 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49948155 49948155 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:49948155C>T ENST00000257981.6 + 11 2214 c.1954C>T c.(1954-1956)Cgg>Tgg p.R652W NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 652 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GCTGCCCCGGCGGGAGCAGGT 0.637000 22 93 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168352864 168352864 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:168352864G>A ENST00000366806.2 + 30 4951 c.4809G>A c.(4807-4809)gcG>gcA p.A1603A MLLT4_ENST00000400822.3_Silent_p.A1602A|MLLT4_ENST00000392112.1_Silent_p.A1586A|MLLT4_ENST00000344191.4_Silent_p.A1603A|MLLT4_ENST00000351017.4_Silent_p.A1610A|MLLT4_ENST00000447894.2_Silent_p.A1603A|MLLT4_ENST00000392108.3_Silent_p.A1603A P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1603 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AACGAAGAGCGAGGGTAAAGG 0.557000 T MLL AL 37 134 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57103273 57103273 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr18:57103273G>C ENST00000439986.4 - 11 1125 c.1088C>G c.(1087-1089)tCt>tGt p.S363C CCBE1_ENST00000398179.2_Missense_Mutation_p.S92C NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 363 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) CTCTGCTGAAGAGTGAGTCCG 0.532000 45 95 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354215 45354215 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr20:45354215C>T ENST00000359271.2 + 2 790 c.540C>T c.(538-540)ctC>ctT p.L180L NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 180 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TGCAATCCCTCAGCCTCCTCT 0.627000 25 30 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118339535 118339535 + Nonsense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:118339535C>T ENST00000534358.1 + 2 501 c.478C>T c.(478-480)Cga>Tga p.R160* KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R160*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R160* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGTCAGAGTGCGAAGTCCCAC 0.403000 13 74 0 0 1 0 0 MED25 81857 broad.mit.edu 37 19 50333414 50333414 + Nonsense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:50333414C>G ENST00000312865.6 + 7 811 c.758C>G c.(757-759)tCa>tGa p.S253* MED25_ENST00000538643.1_Intron NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 253 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) GCCGCACCCTCAGGTGCCACT 0.672000 9 32 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50092156 50092156 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr20:50092156G>A ENST00000371564.3 - 4 1593 c.1374C>T c.(1372-1374)atC>atT p.I458I NFATC2_ENST00000396009.3_Silent_p.I458I|NFATC2_ENST00000609943.1_Silent_p.I438I|NFATC2_ENST00000610033.1_Silent_p.I239I|NFATC2_ENST00000609507.1_Silent_p.I239I|NFATC2_ENST00000414705.1_Silent_p.I438I NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 458 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TCCCAATGAAGATCTGAAGTC 0.512000 24 36 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135888197 135888197 + Nonsense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:135888197C>G ENST00000264158.8 + 13 1185 c.1142C>G c.(1141-1143)tCa>tGa p.S381* RAB3GAP1_ENST00000539493.1_Nonsense_Mutation_p.S337*|RAB3GAP1_ENST00000442034.1_Nonsense_Mutation_p.S381*|RAB3GAP1_ENST00000487003.1_3'UTR NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 381 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) TTATCAGTTTCAAATATGGTA 0.338000 17 55 0 0 1 0 0 LIPA 3988 broad.mit.edu 37 10 90983577 90983577 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:90983577C>G ENST00000336233.5 - 7 1008 c.686G>C c.(685-687)gGa>gCa p.G229A LIPA_ENST00000456827.1_Missense_Mutation_p.G229A|LIPA_ENST00000371837.1_Missense_Mutation_p.G173A P38571 LICH_HUMAN lipase A, lysosomal acid, cholesterol esterase 229 lipid catabolic process lysosome lipase activity|sterol esterase activity endometrium(1)|large_intestine(2)|lung(3) 6 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) TTCTTTGTCTCCAAATAAGTC 0.433000 10 80 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31725297 31725297 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr13:31725297C>G ENST00000320027.5 - 7 1039 c.695G>C c.(694-696)gGa>gCa p.G232A HSPH1_ENST00000380406.5_Missense_Mutation_p.G191A|HSPH1_ENST00000380405.4_Missense_Mutation_p.G232A|HSPH1_ENST00000445273.2_Missense_Mutation_p.G234A|HSPH1_ENST00000429785.2_Missense_Mutation_p.G51A NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 232 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GTTTTTTCCTCCTAAGAAAGG 0.323000 10 55 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65744408 65744408 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr15:65744408C>G ENST00000341861.5 - 18 3932 c.2352G>C c.(2350-2352)tgG>tgC p.W784C DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000300141.6_Missense_Mutation_p.W768C|DPP8_ENST00000358939.4_Missense_Mutation_p.W668C|DPP8_ENST00000321118.7_Missense_Mutation_p.W735C|DPP8_ENST00000339244.5_Missense_Mutation_p.W611C|DPP8_ENST00000559233.1_Missense_Mutation_p.W784C|DPP8_ENST00000321147.6_Missense_Mutation_p.W733C NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 784 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity p.W768*(1) NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CATAGAAGATCCACAGAGTGA 0.468000 11 98 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28146949 28146949 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr22:28146949G>C ENST00000302326.4 - 2 4871 c.3917C>G c.(3916-3918)tCt>tGt p.S1306C MN1_ENST00000497225.1_5'UTR NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1306 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GGAGATGTCAGAATGCAGGGA 0.587000 T ETV6 """AML, meningioma""" 13 27 0 0 1 0 0 METTL2A 339175 broad.mit.edu 37 17 60503793 60503793 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:60503793G>C ENST00000311506.5 + 3 372 c.336G>C c.(334-336)ttG>ttC p.L112F NM_181725.3 NP_859076.3 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 112 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) AAAATCATTTGAAGGACTGGT 0.393000 11 75 0 0 1 0 0 DTX3 196403 broad.mit.edu 37 12 58000773 58000773 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:58000773G>A ENST00000548198.1 + 3 1631 c.127G>A c.(127-129)Gag>Aag p.E43K DTX3_ENST00000337737.3_Missense_Mutation_p.E43K|DTX3_ENST00000551632.1_Missense_Mutation_p.E46K|DTX3_ENST00000548804.1_Missense_Mutation_p.E43K Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 43 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) GCTTCGGGAGGAGCACCGTGT 0.602000 35 234 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36340175 36340175 + Missense_Mutation SNP C C T rs115308424 by1000genomes TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:36340175C>T ENST00000378910.5 - 7 802 c.803G>A c.(802-804)cGa>cAa p.R268Q NPHS1_ENST00000353632.6_Missense_Mutation_p.R268Q NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 268 Ig-like C2-type 3. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATTACCCCCTCGGGCCACGCA 0.662000 7 15 0 0 1 0 0 FAM63B 54629 broad.mit.edu 37 15 59144162 59144162 + Nonsense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr15:59144162C>T ENST00000559228.1 + 8 1817 c.1735C>T c.(1735-1737)Cag>Tag p.Q579* FAM63B_ENST00000450403.2_Nonsense_Mutation_p.Q579* Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 579 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TACACAGGCTCAGGTAAAAAC 0.502000 7 55 0 0 1 0 0 HMGCS1 3157 broad.mit.edu 37 5 43291265 43291265 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:43291265C>T ENST00000325110.6 - 11 1737 c.1531G>A c.(1531-1533)Gaa>Aaa p.E511K HMGCS1_ENST00000433297.2_Missense_Mutation_p.E511K NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 511 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 ACAGCTGCTTCAGGTTCTGCT 0.478000 33 139 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204066416 204066416 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:204066416C>G ENST00000449802.1 + 49 7635 c.7302C>G c.(7300-7302)atC>atG p.I2434M NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2434 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GCAAAATTATCTCACACATCA 0.343000 6 53 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153691835 153691835 + Silent SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chrX:153691835G>T ENST00000369682.3 + 5 1594 c.1419G>T c.(1417-1419)cgG>cgT p.R473R NM_017514.3 NP_059984.3 P51805 PLXA3_HUMAN plexin A3 473 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGGACCACCGGCACATCTATC 0.662000 11 16 5.16669e-11 5.46362e-11 1 1 0 ELMO1 9844 broad.mit.edu 37 7 36895167 36895167 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr7:36895167C>G ENST00000310758.4 - 22 2820 c.2173G>C c.(2173-2175)Gac>Cac p.D725H ELMO1_ENST00000442504.1_Missense_Mutation_p.D725H|ELMO1_ENST00000396045.3_Missense_Mutation_p.D245H|ELMO1_ENST00000341056.3_Missense_Mutation_p.D427H|ELMO1_ENST00000396040.2_Missense_Mutation_p.D245H|ELMO1_ENST00000448602.1_Missense_Mutation_p.D725H NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 725 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 CAGTTACAGTCATAGACGAAG 0.547000 19 98 0 0 1 0 0 RNF214 257160 broad.mit.edu 37 11 117152703 117152703 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:117152703C>T ENST00000530849.1 + 10 974 c.964C>T c.(964-966)Ccc>Tcc p.P322S RNF214_ENST00000300650.4_Missense_Mutation_p.P477S|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531287.1_Missense_Mutation_p.P322S|RNF214_ENST00000531452.1_Missense_Mutation_p.P477S Q8ND24 RN214_HUMAN ring finger protein 214 477 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) CATGGTTATGCCCAGTGCAGA 0.577000 4 210 0 0 1 0 0 MOB1A 55233 broad.mit.edu 37 2 74399722 74399722 + Missense_Mutation SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:74399722C>A ENST00000396049.4 - 2 365 c.172G>T c.(172-174)Gct>Tct p.A58S MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.A58S NM_018221.3 NP_060691.2 Q9H8S9 MOL1B_HUMAN MOB kinase activator 1A hippo signaling cascade metal ion binding|protein binding CTGTTCACAGCAATCCATTCA 0.348000 7 75 2.0095e-06 2.06948e-06 1 1 0 TMCO3 55002 broad.mit.edu 37 13 114149903 114149903 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr13:114149903G>A ENST00000434316.2 + 2 366 c.7G>A c.(7-9)Gtg>Atg p.V3M TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.V3M NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 3 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GATCATGAAGGTGTTGGGAAG 0.567000 10 33 0 0 1 0 0 ST13 6767 broad.mit.edu 37 22 41223120 41223120 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr22:41223120C>G ENST00000216218.3 - 11 1442 c.961G>C c.(961-963)Gag>Cag p.E321Q NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 321 STI1. protein binding, bridging p.E321Q(1) cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 GCAAGAACCTCTGGATCACTA 0.453000 13 31 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6043387 6043387 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr7:6043387G>A ENST00000265849.7 - 4 392 c.287C>T c.(286-288)gCc>gTc p.A96V PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000441476.2_Intron NM_000535.5 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 96 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) AGTTAGGTCGGCAAACTCTTG 0.403000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 4 60 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20999130 20999130 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:20999130C>G ENST00000261383.3 - 46 6766 c.6767G>C c.(6766-6768)aGa>aCa p.R2256T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2256 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CACTGCATCTCTATAAATTGT 0.512000 4 55 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242149760 242149760 + Silent SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:242149760C>A ENST00000274979.8 + 14 1675 c.1572C>A c.(1570-1572)atC>atA p.I524I ANO7_ENST00000402430.3_Silent_p.I523I NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 524 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 ACCGTGCCATCATGGCCATCG 0.677000 11 29 0.010729 0.0107681 1 1 0 MYO15A 51168 broad.mit.edu 37 17 18039129 18039129 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:18039129C>G ENST00000205890.5 + 13 4925 c.4587C>G c.(4585-4587)ttC>ttG p.F1529L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1529 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCATCACCTTCAAAGTGACCG 0.602000 4 16 0 0 1 0 0 SUPT7L 9913 broad.mit.edu 37 2 27880307 27880307 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:27880307C>T ENST00000337768.5 - 4 1218 c.649G>A c.(649-651)Gag>Aag p.E217K SUPT7L_ENST00000404798.2_Missense_Mutation_p.E82K|SUPT7L_ENST00000406540.1_Missense_Mutation_p.E215K|SUPT7L_ENST00000464789.2_Missense_Mutation_p.E215K|SUPT7L_ENST00000405491.1_Missense_Mutation_p.E215K NM_001282729.1|NM_014860.1 NP_001269658.1|NP_055675.1 O94864 ST65G_HUMAN suppressor of Ty 7 (S. cerevisiae)-like 217 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 16 Acute lymphoblastic leukemia(172;0.155) AATACCTGCTCCATCACATCA 0.517000 10 42 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125769698 125769698 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:125769698G>A ENST00000346248.5 - 8 2295 c.1653C>T c.(1651-1653)ctC>ctT p.L551L CHST15_ENST00000435907.1_Silent_p.L551L NM_015892.4 NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 551 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 CCTCATCCGCGAGGACCTGCG 0.587000 3 31 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:37868208C>A ENST00000406381.2 + 10 1349 c.839C>A c.(838-840)tCc>tAc p.S280Y ERBB2_ENST00000540042.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295Y|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310Y|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34Y|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280Y NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 78 175 2.43199e-30 2.65308e-30 1 1 0 EBF2 64641 broad.mit.edu 37 8 25745427 25745427 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr8:25745427G>A ENST00000520164.1 - 9 1350 c.813C>T c.(811-813)gtC>gtT p.V271V EBF2_ENST00000535548.1_Silent_p.V2V|EBF2_ENST00000408929.3_Silent_p.V123V NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 271 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CGATGATGATGACCATGGCTC 0.488000 13 35 0 0 1 0 0 CCDC77 84318 broad.mit.edu 37 12 527786 527786 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:527786G>A ENST00000239830.4 + 5 576 c.397G>A c.(397-399)Gac>Aac p.D133N CCDC77_ENST00000422000.1_Missense_Mutation_p.D101N|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Missense_Mutation_p.D101N|CCDC77_ENST00000540180.1_Missense_Mutation_p.D101N NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 133 centrosome cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) CTCAGAAAATGACCGACTGAG 0.393000 19 118 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10207131 10207131 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:10207131G>A ENST00000377157.3 + 18 2900 c.1839G>A c.(1837-1839)ctG>ctA p.L613L UBE4B_ENST00000253251.8_Silent_p.L729L|UBE4B_ENST00000343090.6_Silent_p.L858L NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 858 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TCCGCATCCTGGACCCCGCAT 0.502000 48 113 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40070025 40070025 + Silent SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:40070025G>C ENST00000352035.2 - 2 232 c.102C>G c.(100-102)gtC>gtG p.V34V ACLY_ENST00000353196.1_Silent_p.V34V|ACLY_ENST00000537919.1_Silent_p.V34V|ACLY_ENST00000393896.2_Silent_p.V34V|ACLY_ENST00000590151.1_Silent_p.V34V NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 34 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) TGTCAGGAGTGACCCGAGCAT 0.587000 8 110 0 0 1 0 0 TRAV8-7 28679 broad.mit.edu 37 14 22600798 22600798 + RNA SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr14:22600798C>T ENST00000390456.3 + 0 143 AGTGGAGTTCCTTCTCTCTTC 0.502000 11 31 0 0 1 0 0 OXSM 54995 broad.mit.edu 37 3 25835901 25835901 + Missense_Mutation SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:25835901G>T ENST00000280701.3 + 3 1395 c.1296G>T c.(1294-1296)tgG>tgT p.W432C OXSM_ENST00000420173.2_Missense_Mutation_p.W349C NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 432 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 CACAGGAATGGAAAACTGAGA 0.358000 17 86 2.48551e-13 2.64865e-13 1 1 0 UGT1A1 54658 broad.mit.edu 37 2 234526713 234526713 + Missense_Mutation SNP T T G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:234526713T>G ENST00000373450.4 + 1 423 c.360T>G c.(358-360)ttT>ttG p.F120L NM_019076.4 NP_061949.3 P22309 UD11_HUMAN bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TTAACTTATTTTTTTCGCATT 0.368000 9 143 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47539014 47539014 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr21:47539014G>A ENST00000300527.4 + 14 1354 c.1250G>A c.(1249-1251)cGc>cAc p.R417H COL6A2_ENST00000310645.5_Missense_Mutation_p.R417H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R417H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R417H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R417H NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 417 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCTGGGCCCCGCGGACCCAAA 0.662000 6 10 0 0 1 0 0 MGME1 92667 broad.mit.edu 37 20 17970779 17970779 + Missense_Mutation SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr20:17970779C>A ENST00000377704.4 + 3 795 c.709C>A c.(709-711)Cag>Aag p.Q237K MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_3'UTR|MGME1_ENST00000377710.5_3'UTR mitochondrial genome maintenance exonuclease 1 TGGGAACATTCAGCACCTTCT 0.393000 21 14 8.10497e-08 8.44141e-08 1 1 0 FAM96A 84191 broad.mit.edu 37 15 64385903 64385903 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr15:64385903G>A ENST00000557835.1 - 1 91 c.65C>T c.(64-66)tCt>tTt p.S22F FAM96A_ENST00000380290.3_Missense_Mutation_p.S22F|FAM96A_ENST00000300030.3_Missense_Mutation_p.S22F|FAM96A_ENST00000559950.1_Missense_Mutation_p.S22F Q9H5X1 FA96A_HUMAN family with sequence similarity 96, member A 22 chromosome segregation kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 TCCCGGCTCAGAGAGGCCGGA 0.582000 5 38 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101296 27101296 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:27101296G>A ENST00000324856.7 + 18 4949 c.4578G>A c.(4576-4578)gtG>gtA p.V1526V ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.V1143V|ARID1A_ENST00000457599.2_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1526 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ATCATGGCGTGAACCGAACAG 0.602000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 19 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179424485 179424485 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:179424485C>G ENST00000589042.1 - 326 86598 c.86374G>C c.(86374-86376)Gac>Cac p.D28792H TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19919H|TTN_ENST00000591111.1_Missense_Mutation_p.D27151H|TTN_ENST00000460472.2_Missense_Mutation_p.D19727H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26224H|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19852H|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27151 Fibronectin type-III 110. 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) AGGTCAGTGTCTGGCTTACTC 0.453000 13 96 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 67 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086228 56086228 + Missense_Mutation SNP A A G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:56086228A>G ENST00000312711.1 + 1 446 c.446A>G c.(445-447)tAc>tGc p.Y149C NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) GCAATCCCTTACCTCTATTGC 0.428000 17 80 0 0 1 0 0 SYP 6855 broad.mit.edu 37 X 49047990 49047990 + Silent SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chrX:49047990G>T ENST00000263233.4 - 6 918 c.846C>A c.(844-846)gcC>gcA p.A282A SYP_ENST00000479808.1_Silent_p.A282A|SYP_ENST00000538567.1_Silent_p.A164A NM_003179.2 NP_003170.1 P08247 SYPH_HUMAN synaptophysin 282 Repeats, Gly-rich. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1) 15 all_lung(315;0.00016) CACCGCTGCCGGCTGGTTGAC 0.677000 7 6 5.18039e-06 5.29551e-06 1 1 0 STAMBP 10617 broad.mit.edu 37 2 74077584 74077584 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:74077584G>C ENST00000394070.2 + 7 1452 c.949G>C c.(949-951)Gaa>Caa p.E317Q STAMBP_ENST00000339566.3_Missense_Mutation_p.E317Q|STAMBP_ENST00000394073.1_Missense_Mutation_p.E317Q|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000409707.1_Missense_Mutation_p.E317Q NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 317 MPN. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding p.E317K(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 AGAGAACGAAGAAGAACTTTT 0.473000 16 63 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47615021 47615021 + Silent SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr20:47615021G>C ENST00000371917.4 + 25 3411 c.3411G>C c.(3409-3411)gtG>gtC p.V1137V NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1137 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TATGGCATGTGATTGGAGATC 0.368000 34 39 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74921614 74921614 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:74921614C>T ENST00000262144.6 - 23 2516 c.2386G>A c.(2386-2388)Gac>Aac p.D796N NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 796 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 AGCCCTGGGTCTGACATACTG 0.483000 3 28 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185359 127185359 + Nonsense_Mutation SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chrX:127185359G>T ENST00000371124.3 - 1 1023 c.827C>A c.(826-828)tCa>tAa p.S276* NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 276 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 GACCATTTTTGAGAGTCCTGG 0.527000 41 48 6.57855e-14 7.0649e-14 1 1 0 IQGAP2 10788 broad.mit.edu 37 5 75970356 75970356 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:75970356G>C ENST00000274364.6 + 27 3646 c.3349G>C c.(3349-3351)Gat>Cat p.D1117H IQGAP2_ENST00000379730.3_Missense_Mutation_p.D619H|IQGAP2_ENST00000502745.1_Missense_Mutation_p.D613H|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D613H NM_006633.2 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1117 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TGTAGCTCCAGATGGCTTTGA 0.458000 22 36 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24205302 24205302 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:24205302C>T ENST00000378454.3 - 8 1252 c.951G>A c.(949-951)gaG>gaA p.E317E DCDC2_ENST00000378450.3_Silent_p.E70E NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 317 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) TTTCAGACCTCTCTGCTCCAG 0.428000 31 179 0 0 1 0 0 SLC6A16 28968 broad.mit.edu 37 19 49793532 49793532 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:49793532G>A ENST00000335875.4 - 12 2300 c.2059C>T c.(2059-2061)Ccc>Tcc p.P687S SLC6A16_ENST00000454748.3_3'UTR NM_014037.2 NP_054756.2 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 687 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GGCCTGAAGGGAATCCTATGT 0.512000 16 114 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67119420 67119420 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:67119420C>G ENST00000284425.2 - 10 1570 c.1396G>C c.(1396-1398)Gaa>Caa p.E466Q NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 466 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GCTACTGGTTCAAAATAATCA 0.348000 6 64 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1403077 1403077 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:1403077G>A ENST00000270349.9 - 13 1854 c.1727C>T c.(1726-1728)gCg>gTg p.A576V SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 576 Interaction with TGFB1I1. cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CTTGTAGGCCGCATAGATGGG 0.632000 4 47 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113547282 113547282 + Nonsense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr9:113547282G>A ENST00000416899.2 + 10 1674 c.1548G>A c.(1546-1548)tgG>tgA p.W516* MUSK_ENST00000374438.1_Intron|MUSK_ENST00000189978.5_Nonsense_Mutation_p.W524*|MUSK_ENST00000374448.4_Nonsense_Mutation_p.W524* O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 524 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 GAAAACAATGGAAAAATAAGA 0.348000 46 90 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16664976 16664976 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:16664976G>C ENST00000443444.2 + 13 3750 c.3610G>C c.(3610-3612)Gaa>Caa p.E1204Q CCDC144A_ENST00000456009.1_Missense_Mutation_p.E970Q|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E1204Q|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E1204Q|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E1204Q A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 1204 GTTGATTGAAGAAAGAGCAAG 0.353000 18 73 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13699486 13699486 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:13699486G>A ENST00000357447.2 - 22 2471 c.2103C>T c.(2101-2103)ctC>ctT p.L701L FRMD4A_ENST00000378503.1_Silent_p.L701L|FRMD4A_ENST00000358621.4_Silent_p.L686L NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 701 Ser-rich. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 AGTGCAGTGCGAGGCTGTGCA 0.692000 7 19 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142575686 142575686 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr7:142575686C>G ENST00000359396.3 - 2 467 c.222G>C c.(220-222)caG>caC p.Q74H RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 74 Q -> H (in Ref. 1; AAG41951). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TCTTACCTCTCTGGTGCACCT 0.527000 11 35 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47378027 47378027 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:47378027G>A ENST00000232766.5 + 7 921 c.901G>A c.(901-903)Gat>Aat p.D301N KLHL18_ENST00000455924.2_Missense_Mutation_p.D189N NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 301 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) TTATGCAGGTGATTCCCTGAA 0.468000 7 23 0 0 1 0 0 OXSM 54995 broad.mit.edu 37 3 25835910 25835910 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:25835910G>C ENST00000280701.3 + 3 1404 c.1305G>C c.(1303-1305)gaG>gaC p.E435D OXSM_ENST00000420173.2_Missense_Mutation_p.E352D NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 435 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 GGAAAACTGAGAAAAGATTTA 0.348000 20 81 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27057826 27057826 + Nonsense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:27057826C>T ENST00000324856.7 + 3 1905 c.1534C>T c.(1534-1536)Cag>Tag p.Q512* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q129*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q512* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 512 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ACCACAGCTCCAGTCCTCTCA 0.627000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 81 187 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103898903 103898903 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:103898903C>G ENST00000278070.2 + 5 677 c.638C>G c.(637-639)tCt>tGt p.S213C PPRC1_ENST00000413464.2_Missense_Mutation_p.S213C NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TCCCCACCCTCTTTCTTAGAG 0.542000 14 132 0 0 1 0 0 KLHDC2 23588 broad.mit.edu 37 14 50246473 50246473 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr14:50246473G>C ENST00000298307.5 + 8 1583 c.722G>C c.(721-723)aGa>aCa p.R241T KLHDC2_ENST00000557247.1_Missense_Mutation_p.R241T|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R241T NM_014315.2 NP_055130.1 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 241 nucleus protein binding p.R241T(1) endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) TAGGATGCTAGAATGAATGAT 0.318000 17 32 0 0 1 0 0 FPGT 8790 broad.mit.edu 37 1 74670942 74670942 + Missense_Mutation SNP A A G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:74670942A>G ENST00000609362.1 + 4 1248 c.1211A>G c.(1210-1212)cAa>cGa p.Q404R FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370894.5_Missense_Mutation_p.K132E|FPGT_ENST00000370898.3_Missense_Mutation_p.Q417R|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.Q150R|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron NM_003838.4 NP_003829.3 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 TGTATCATTCAAAGCATACTG 0.413000 10 53 0 0 1 0 0 SLC2A1 6513 broad.mit.edu 37 1 43393372 43393372 + Silent SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:43393372G>C ENST00000426263.3 - 9 1360 c.1182C>G c.(1180-1182)ctC>ctG p.L394L SLC2A1_ENST00000475162.1_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 394 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) CCTGGCTGAAGAGTTCAGCCA 0.542000 6 17 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111694670 111694670 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:111694670C>G ENST00000435970.1 - 15 5470 c.4654G>C c.(4654-4656)Gaa>Caa p.E1552Q REV3L_ENST00000368802.3_Missense_Mutation_p.E1630Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E1630Q|REV3L_ENST00000358835.3_Missense_Mutation_p.E1630Q O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1630 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TAACAACTTTCAAAGCCTGGA 0.323000 DNA polymerases (catalytic subunits) 16 83 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6731373 6731373 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr7:6731373C>T ENST00000405858.1 - 5 1741 c.1200G>A c.(1198-1200)caG>caA p.Q400Q ZNF12_ENST00000404360.1_Silent_p.Q326Q|ZNF12_ENST00000342651.5_Silent_p.Q362Q|AC073343.13_ENST00000366167.2_RNA NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 400 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TGTGAATTTTCTGATGGTCAT 0.468000 18 30 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907498 12907498 + Silent SNP C C G rs6702440 TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:12907498C>G ENST00000317869.6 - 2 870 c.645G>C c.(643-645)gtG>gtC p.V215V NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TAGCATTTTTCACCTCTACCT 0.448000 48 129 0 0 1 0 0 ANAPC5 51433 broad.mit.edu 37 12 121784699 121784699 + Splice_Site SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:121784699C>T ENST00000261819.3 - 3 518 c.397G>A c.(397-399)Ggt>Agt p.G133S ANAPC5_ENST00000541887.1_Splice_Site_p.G133S|ANAPC5_ENST00000441917.2_Splice_Site_p.G34S|ANAPC5_ENST00000344395.4_Splice_Site_p.G34S NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 133 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGTTTCATACCTACTACACTT 0.393000 6 37 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61761089 61761089 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr8:61761089C>T ENST00000423902.2 + 24 5705 c.5226C>T c.(5224-5226)gtC>gtT p.V1742V CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1742 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGCTGCGTGTCCGCATGCTGT 0.502000 3 5 0 0 1 0 0 KPNA1 3836 broad.mit.edu 37 3 122215400 122215400 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:122215400C>T ENST00000344337.6 - 2 189 c.13G>A c.(13-15)Gga>Aga p.G5R NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 5 IBB. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) TTCTCTTTTCCTGGGGTGGTC 0.423000 23 104 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120638956 120638956 + Silent SNP T T C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr8:120638956T>C ENST00000427067.2 - 3 309 c.129A>G c.(127-129)ctA>ctG p.L43L ENPP2_ENST00000075322.6_Silent_p.L47L|ENPP2_ENST00000259486.6_Silent_p.L47L|ENPP2_ENST00000522826.1_Silent_p.L47L Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 47 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GGGAGTCTGATAGCACTGCAA 0.522000 14 23 0 0 1 0 0 RFTN2 130132 broad.mit.edu 37 2 198436896 198436896 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:198436896C>T ENST00000295049.4 - 9 1878 c.1342G>A c.(1342-1344)Gag>Aag p.E448K NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 CGGCACTCCTCAGGCAGGTGT 0.542000 13 76 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35435274 35435274 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:35435274C>G ENST00000439785.1 + 5 1851 c.1407C>G c.(1405-1407)caC>caG p.H469Q ZNF30_ENST00000303586.7_Missense_Mutation_p.H469Q|ZNF30_ENST00000426813.2_Missense_Mutation_p.H387Q|ZNF30_ENST00000601142.1_Missense_Mutation_p.H468Q|ZNF30_ENST00000601957.1_3'UTR NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 468 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) TCAGAGTGCACGTACATCTCA 0.438000 6 34 0 0 1 0 0 RABGGTB 5876 broad.mit.edu 37 1 76259861 76259861 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:76259861C>T ENST00000319942.3 + 8 869 c.798C>T c.(796-798)ttC>ttT p.F266F RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Silent_p.F92F NM_004582.3 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase, beta subunit 266 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1) 19 TGCGTAATTTCATTTTAGCAT 0.398000 34 107 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25848952 25848952 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr4:25848952G>A ENST00000399878.3 - 2 819 c.697C>T c.(697-699)Cgg>Tgg p.R233W SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R198W|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R80W NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 233 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CTGTTTGCCCGAAGGTTCCAA 0.433000 16 29 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77413253 77413253 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:77413253C>T ENST00000308488.6 - 6 1323 c.1021G>A c.(1021-1023)Gag>Aag p.E341K RSF1_ENST00000480887.1_Missense_Mutation_p.E89K|RSF1_ENST00000360355.2_Missense_Mutation_p.E310K Q96T23 RSF1_HUMAN remodeling and spacing factor 1 341 Glu-rich. CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) ACTGGCTTCTCCATGCTACTT 0.383000 46 151 0 0 1 0 0 SERPINE3 647174 broad.mit.edu 37 13 51915321 51915321 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr13:51915321G>C ENST00000524365.1 + 4 719 c.94G>C c.(94-96)Gag>Cag p.E32Q SERPINE3_ENST00000400389.4_Missense_Mutation_p.E32Q|SERPINE3_ENST00000521255.1_Missense_Mutation_p.E32Q A8MV23 SERP3_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 32 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 GCTGAAGACTGAGTTTGCACT 0.542000 8 38 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107688500 107688500 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr7:107688500G>A ENST00000388781.3 - 28 4262 c.4179C>T c.(4177-4179)ctC>ctT p.L1393L LAMB4_ENST00000205386.4_Silent_p.L1393L|LAMB4_ENST00000388780.3_Silent_p.L1393L NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1393 Domain alpha. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGCCCGTGCAGAGAGCACCGC 0.552000 17 60 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131378024 131378024 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr9:131378024C>T ENST00000372739.3 + 41 5372 c.5262C>T c.(5260-5262)atC>atT p.I1754I SPTAN1_ENST00000372731.4_Silent_p.I1749I|SPTAN1_ENST00000358161.5_Silent_p.I1754I NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1749 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 TCCAGAAGATCAAGAGCATGG 0.572000 25 30 0 0 1 0 0 ING5 84289 broad.mit.edu 37 2 242644111 242644111 + Silent SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:242644111G>T ENST00000313552.6 + 2 107 c.81G>T c.(79-81)ctG>ctT p.L27L ING5_ENST00000406941.1_Silent_p.L27L|ING5_ENST00000482774.1_3'UTR NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 27 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) ACTTCCAGCTGATGCGAGAGC 0.527000 15 62 6.31663e-08 6.60375e-08 1 1 0 RP1 6101 broad.mit.edu 37 8 55538471 55538471 + Nonsense_Mutation SNP C C T rs104894082 TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr8:55538471C>T ENST00000220676.1 + 4 2177 c.2029C>T c.(2029-2031)Cga>Tga p.R677* NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 677 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GAAAAAATCTCGACAGCAAGC 0.323000 16 42 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62147449 62147449 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:62147449C>T ENST00000416284.3 - 4 1922 c.338G>A c.(337-339)cGg>cAg p.R113Q FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Missense_Mutation_p.R113Q|FAM19A2_ENST00000550003.1_Missense_Mutation_p.R16Q NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 113 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) CCATCCTTTCCGATCCGGAAG 0.413000 11 81 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 19 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70456528 70456528 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr13:70456528C>T ENST00000377844.4 - 5 1873 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K KLHL1_ENST00000545028.1_Missense_Mutation_p.E179K NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 372 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ATGGTTTCTTCATCAGGAACA 0.418000 18 59 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118250501 118250501 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chrX:118250501G>C ENST00000402510.2 - 4 607 c.608C>G c.(607-609)tCt>tGt p.S203C NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 203 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CTGCAGAGAAGAGATGTTAAT 0.483000 7 10 0 0 1 0 0 PILRA 29992 broad.mit.edu 37 7 99971727 99971727 + Nonsense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr7:99971727C>G ENST00000198536.2 + 2 337 c.125C>G c.(124-126)tCa>tGa p.S42* PILRA_ENST00000453419.1_Nonsense_Mutation_p.S42*|PILRA_ENST00000394000.2_Nonsense_Mutation_p.S42*|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Nonsense_Mutation_p.S42* NM_013439.2 NP_038467.2 Q9UKJ1 PILRA_HUMAN paired immunoglobin-like type 2 receptor alpha 42 Ig-like V-type. interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 15 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAACACCTCTCAGCCTCCATG 0.557000 6 43 0 0 1 0 0 PHC3 80012 broad.mit.edu 37 3 169846696 169846696 + Missense_Mutation SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:169846696G>T ENST00000495893.2 - 8 1595 c.1564C>A c.(1564-1566)Cca>Aca p.P522T PHC3_ENST00000467570.1_Missense_Mutation_p.P469T|PHC3_ENST00000494943.1_Missense_Mutation_p.P510T NM_024947.3 NP_079223.3 Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) Gln-rich.|Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) ATCTGAGCTGGAGGAGATGTC 0.517000 14 72 1.05317e-09 1.10523e-09 1 1 0 SLC5A6 8884 broad.mit.edu 37 2 27425742 27425742 + Missense_Mutation SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:27425742C>A ENST00000310574.3 - 12 1687 c.1214G>T c.(1213-1215)gGc>gTc p.G405V SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Missense_Mutation_p.G405V NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 405 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) CAGCCCATAGCCAAAGGCTGG 0.493000 19 99 1.50039e-11 1.59272e-11 1 1 0 CANX 821 broad.mit.edu 37 5 179134191 179134191 + Splice_Site SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:179134191G>A ENST00000247461.4 + 4 504 c.304G>A c.(304-306)Gga>Aga p.G102R CANX_ENST00000452673.2_Splice_Site_p.G102R|CANX_ENST00000512607.2_Intron|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000504734.1_Splice_Site_p.G102R|CANX_ENST00000415618.2_Splice_Site_p.G137R NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 102 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAATATGATGGTGAGAATCC 0.353000 9 49 0 0 1 0 0 SYAP1 94056 broad.mit.edu 37 X 16775342 16775342 + Missense_Mutation SNP G G A rs142663946 byFrequency TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chrX:16775342G>A ENST00000380155.3 + 8 934 c.841G>A c.(841-843)Gat>Aat p.D281N NM_032796.3 NP_116185.2 Q96A49 SYAP1_HUMAN synapse associated protein 1 281 p.D281H(1) endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1) 10 Hepatocellular(33;0.0997) TGATGCCTTCGATGCCTGTAA 0.418000 30 51 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127426975 127426975 + Missense_Mutation SNP G G A rs144071063 TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:127426975G>A ENST00000337623.3 + 14 1945 c.1840G>A c.(1840-1842)Gag>Aag p.E614K C10orf137_ENST00000356792.4_Missense_Mutation_p.E648K NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AGGGGGTCCCGAGGGGCTAGA 0.433000 15 55 0 0 1 0 0 RMDN3 55177 broad.mit.edu 37 15 41037303 41037303 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr15:41037303G>A ENST00000260385.6 - 4 1746 c.679C>T c.(679-681)Ctg>Ttg p.L227L RMDN3_ENST00000558560.1_Intron|RMDN3_ENST00000338376.3_Silent_p.L227L regulator of microtubule dynamics 3 CCAGCCTCCAGGGCACTGGAG 0.597000 5 33 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53609099 53609099 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:53609099G>A ENST00000425354.2 - 5 940 c.453C>T c.(451-453)ttC>ttT p.F151F RARG_ENST00000394426.1_Silent_p.F151F|RARG_ENST00000543726.1_Silent_p.F129F|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Silent_p.F79F|RARG_ENST00000338561.5_Silent_p.F140F NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 151 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) TGCCCACTTCGAAGCACTTCT 0.552000 26 69 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135798755 135798755 + Nonsense_Mutation SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr9:135798755G>T ENST00000298552.3 - 6 709 c.488C>A c.(487-489)tCa>tAa p.S163* TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Nonsense_Mutation_p.S163*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.S112*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.S163* NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 163 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CAGGCACCATGATGACAGACG 0.433000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 14 22 1.49906e-05 1.5211e-05 1 1 0 PIWIL1 9271 broad.mit.edu 37 12 130847598 130847598 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:130847598G>A ENST00000245255.3 + 18 2376 c.2104G>A c.(2104-2106)Gat>Aat p.D702N NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 702 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CGTGTACCGCGATGGCGTAGG 0.488000 19 55 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 3 27 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73917570 73917570 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:73917570C>G ENST00000586717.1 - 15 1829 c.1556G>C c.(1555-1557)gGa>gCa p.G519A FBF1_ENST00000319129.5_Missense_Mutation_p.G518A|FBF1_ENST00000389570.4_Missense_Mutation_p.G519A A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 518 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 TGAGAGGTCTCCAGGGGCTGT 0.562000 3 18 0 0 1 0 0 GBAS 2631 broad.mit.edu 37 7 56062621 56062621 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr7:56062621G>A ENST00000322090.3 + 8 681 c.652G>A c.(652-654)Gaa>Aaa p.E218K GBAS_ENST00000446778.1_Missense_Mutation_p.E179K NM_001483.2 NP_001474.1 O75323 NIPS2_HUMAN glioblastoma amplified sequence 218 integral to plasma membrane|membrane fraction|mitochondrion protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GGATGGTAACGAAGCCGTCGG 0.453000 102 138 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31534263 31534263 + Splice_Site SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr22:31534263C>T ENST00000215885.3 - 3 1033 c.781G>A c.(781-783)Ggg>Agg p.G261R NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 261 Phospholipase A2-like. cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 GCCACGTACCCGCCCCACCAG 0.617000 3 13 0 0 1 0 0 TSPYL4 23270 broad.mit.edu 37 6 116575051 116575051 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:116575051C>T ENST00000420283.1 - 1 210 c.121G>A c.(121-123)Gag>Aag p.E41K NM_021648.4 NP_067680.3 Q9UJ04 TSYL4_HUMAN TSPY-like 4 41 nucleosome assembly nucleus endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125) TGTGTCGCCTCGGTTTCTTCA 0.672000 3 20 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137164 126137164 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:126137164C>G ENST00000299308.3 + 8 2085 c.2077C>G c.(2077-2079)Cag>Gag p.Q693E TMEM132B_ENST00000535886.1_Missense_Mutation_p.Q205E NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 693 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GGATGTTCTTCAGTCCCCACA 0.602000 9 34 0 0 1 0 0 DNAJA3 9093 broad.mit.edu 37 16 4484461 4484461 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:4484461G>C ENST00000262375.6 + 2 365 c.288G>C c.(286-288)caG>caC p.Q96H DNAJA3_ENST00000355296.4_Missense_Mutation_p.Q96H|DNAJA3_ENST00000572139.1_3'UTR|DNAJA3_ENST00000431375.2_Intron NM_005147.5 NP_005138.3 Q96EY1 DNJA3_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 3 96 J. activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2) 15 ATTATTATCAGATATTAGGAG 0.398000 51 129 0 0 1 0 0 TSTA3 7264 broad.mit.edu 37 8 144696807 144696807 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr8:144696807C>T ENST00000425753.2 - 5 554 c.451G>A c.(451-453)Gac>Aac p.D151N TSTA3_ENST00000529064.1_Missense_Mutation_p.D151N NM_003313.3 NP_003304.1 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 151 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) TTCTGCACGTCGATCATCCTC 0.662000 26 40 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87964497 87964497 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:87964497G>A ENST00000369577.3 + 8 1193 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K ZNF292_ENST00000339907.4_Missense_Mutation_p.E379K NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TGATGATCTGGAAGTTAAACG 0.378000 11 69 0 0 1 0 0 EMX2 2018 broad.mit.edu 37 10 119303135 119303135 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:119303135C>T ENST00000553456.3 + 1 1181 c.357C>T c.(355-357)ttC>ttT p.F119F EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.F119F NM_004098.3 NP_004089.1 Q04743 EMX2_HUMAN empty spiracles homeobox 2 119 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2) 12 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) CGTCCACCTTCTACCCCTGGC 0.692000 5 49 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1270370 1270370 + Missense_Mutation SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:1270370C>A ENST00000447027.1 + 31 12327 c.12269C>A c.(12268-12270)cCg>cAg p.P4090Q RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P4087Q Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4087 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACGACCACCCCGGGCCACACC 0.701000 6 54 0.0293803 0.0293803 1 1 0 SCN1A 6323 broad.mit.edu 37 2 166848778 166848778 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:166848778C>T ENST00000423058.2 - 26 5024 c.5007G>A c.(5005-5007)gcG>gcA p.A1669A SCN1A_ENST00000409050.1_Silent_p.A1641A|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.A1669A|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.A1658A NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1669 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGTTAAACAACGCAGGAAGGG 0.493000 22 68 0 0 1 0 0 PPP4C 5531 broad.mit.edu 37 16 30095063 30095063 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:30095063G>A ENST00000279387.7 + 7 733 c.565G>A c.(565-567)Gat>Aat p.D189N PPP4C_ENST00000561610.1_Missense_Mutation_p.D189N NM_002720.1 NP_002711.1 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 189 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 GGTGCCTCATGATGGGCCCAT 0.617000 10 40 0 0 1 0 0 MINA 84864 broad.mit.edu 37 3 97668765 97668765 + Nonsense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:97668765G>C ENST00000333396.7 - 7 1565 c.983C>G c.(982-984)tCa>tGa p.S328* MINA_ENST00000394198.2_Nonsense_Mutation_p.S328*|MINA_ENST00000360258.4_Nonsense_Mutation_p.S327* NM_001042533.2|NM_032778.5 NP_001035998.1|NP_116167.3 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen ribosome biogenesis cytoplasm|nucleolus breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 CTTCATGTCTGAGGAAAGCAG 0.512000 9 59 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18023482 18023482 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:18023482C>T ENST00000361221.3 + 29 3606 c.3447C>T c.(3445-3447)gaC>gaT p.D1149D ARHGEF10L_ENST00000375415.1_Silent_p.D1110D|ARHGEF10L_ENST00000452522.1_Silent_p.D1110D|ARHGEF10L_ENST00000167825.4_Silent_p.D852D|ARHGEF10L_ENST00000375408.3_Silent_p.D922D|ARHGEF10L_ENST00000469726.1_3'UTR NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1149 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) ACAAGCCAGACGGGCAGGCAC 0.677000 OREG0013156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 5 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2806578 2806578 + Silent SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:2806578C>G ENST00000301740.8 + 2 762 c.213C>G c.(211-213)ctC>ctG p.L71L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 71 Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TGCGATGCCTCGAGCTGGAGG 0.622000 8 35 0 0 1 0 0 DPF1 8193 broad.mit.edu 37 19 38703011 38703011 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:38703011G>A ENST00000416611.1 - 11 1158 c.1035C>T c.(1033-1035)ctC>ctT p.L345L DPF1_ENST00000456296.1_Intron|DPF1_ENST00000420980.2_Silent_p.L327L|DPF1_ENST00000355526.4_Intron|DPF1_ENST00000414789.1_Intron|DPF1_ENST00000412732.1_Intron Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 327 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCTGGGGGGTGAGACCCGCCC 0.682000 5 16 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39250312 39250312 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:39250312G>A ENST00000426016.1 - 11 1343 c.1257C>T c.(1255-1257)atC>atT p.I419I SOS1_ENST00000395038.2_Silent_p.I419I|SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000402219.2_Silent_p.I419I|SOS1_ENST00000472480.1_5'UTR Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 419 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) TCATCTTCTTGATTGCTAGTT 0.358000 Noonan syndrome 13 84 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204955124 204955124 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:204955124C>T ENST00000367172.4 + 23 3001 c.2673C>T c.(2671-2673)ctC>ctT p.L891L NFASC_ENST00000367171.4_Silent_p.L876L|NFASC_ENST00000404076.1_Silent_p.L870L|NFASC_ENST00000513543.1_Silent_p.L887L|NFASC_ENST00000338515.6_Silent_p.L891L|NFASC_ENST00000367170.4_Silent_p.L891L|NFASC_ENST00000338586.6_Silent_p.L891L|NFASC_ENST00000404907.1_Silent_p.L887L|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000360049.4_Silent_p.L887L|NFASC_ENST00000539706.1_Silent_p.L887L O94856 NFASC_HUMAN neurofascin 891 Fibronectin type-III 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GTGACCGCCTCCGTGGCGTGG 0.587000 4 20 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128851343 128851343 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:128851343C>T ENST00000310343.9 - 16 1705 c.1706G>A c.(1705-1707)gGc>gAc p.G569D ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G495D|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G220D|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G220D NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 569 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GCTGATTCTGCCGCTGAACAG 0.537000 5 98 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47904867 47904867 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr7:47904867C>G ENST00000289672.2 - 26 4146 c.4096G>C c.(4096-4098)Gaa>Caa p.E1366Q NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1366 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CCAATCATTTCTTCCTGACCA 0.338000 7 22 0 0 1 0 0 GCDH 2639 broad.mit.edu 37 19 13007762 13007762 + Silent SNP C C T rs143102910 byFrequency TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:13007762C>T ENST00000222214.5 + 9 1102 c.891C>T c.(889-891)atC>atT p.I297I GCDH_ENST00000457854.1_Silent_p.I297I|GCDH_ENST00000591470.1_Silent_p.I297I|GCDH_ENST00000422947.2_Silent_p.I253I Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 297 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 GGTACGGCATCGCGTGGGGCG 0.632000 8 31 0 0 1 0 0 TMEM181 57583 broad.mit.edu 37 6 159029430 159029430 + Missense_Mutation SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:159029430C>A ENST00000367090.3 + 9 1161 c.1150C>A c.(1150-1152)Cag>Aag p.Q384K NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 384 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) TGACCTCTTTCAGTCCATGTT 0.592000 20 65 3.62473e-10 3.81842e-10 1 1 0 HIST1H1C 3006 broad.mit.edu 37 6 26056218 26056218 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:26056218G>A ENST00000343677.2 - 1 481 c.439C>T c.(439-441)Ccg>Tcg p.P147S NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 147 nucleosome assembly nucleosome|nucleus DNA binding p.P147S(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 CTCTTCTTCGGAGTTGCGCCG 0.577000 30 136 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 68877531 68877531 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr16:68877531G>A ENST00000261778.1 + 1 23 c.11G>A c.(10-12)cGa>cAa p.R4Q NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) ATGGCGGCCCGACAGGCCGTG 0.667000 14 39 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131381222 131381222 + Silent SNP C C A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr9:131381222C>A ENST00000372739.3 + 44 5783 c.5673C>A c.(5671-5673)atC>atA p.I1891I SPTAN1_ENST00000372731.4_Silent_p.I1886I|SPTAN1_ENST00000358161.5_Silent_p.I1891I NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1886 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 AAGCCTGGATCAATGAGAAAA 0.493000 19 33 7.07596e-05 7.15372e-05 1 1 0 PHACTR2 9749 broad.mit.edu 37 6 144086865 144086865 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:144086865G>A ENST00000427704.2 + 6 1259 c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K PHACTR2_ENST00000305766.6_Missense_Mutation_p.E297K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E388K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E365K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E308K NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 377 actin binding|protein phosphatase inhibitor activity p.E297K(1)|p.E388K(1) NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TCTTTGGGCTGAAGAGCCGAC 0.502000 25 77 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26154062 26154062 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr13:26154062G>C ENST00000381655.2 + 22 2126 c.1984G>C c.(1984-1986)Gag>Cag p.E662Q ATP8A2_ENST00000255283.8_Missense_Mutation_p.E622Q|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 622 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ACGGTTGGAAGAGTGTTACGA 0.433000 10 35 0 0 1 0 0 ENDOU 8909 broad.mit.edu 37 12 48111320 48111320 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:48111320C>T ENST00000422538.3 - 4 485 c.363G>A c.(361-363)gaG>gaA p.E121E ENDOU_ENST00000229003.3_Silent_p.E80E|ENDOU_ENST00000542202.1_5'UTR|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Silent_p.E58E NM_001172439.1 NP_001165910.1 P21128 ENDOU_HUMAN endonuclease, polyU-specific 121 SMB 2. female pregnancy|immune response|proteolysis cytoplasm|extracellular space|plasma membrane endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1) 14 TACACAGGCTCTCAAAATCCT 0.542000 OREG0021752 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 98 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52797631 52797631 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr12:52797631C>G ENST00000257974.2 - 2 551 c.474G>C c.(472-474)caG>caC p.Q158H NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 158 Linker 1.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) GGCAGCACCTCTGCTGCTGCA 0.577000 10 41 0 0 1 0 0 EIF3M 10480 broad.mit.edu 37 11 32608636 32608636 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:32608636G>A ENST00000531120.1 + 2 184 c.121G>A c.(121-123)Gat>Aat p.D41N EIF3M_ENST00000524896.1_Intron|EIF3M_ENST00000532054.1_3'UTR NM_006360.4 NP_006351.2 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, subunit M 41 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 Breast(20;0.109) ACTTCATGTTGATTTAGCTCA 0.348000 29 112 0 0 1 0 0 STAMBP 10617 broad.mit.edu 37 2 74074845 74074845 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:74074845C>T ENST00000394070.2 + 5 1210 c.707C>T c.(706-708)tCc>tTc p.S236F STAMBP_ENST00000339566.3_Missense_Mutation_p.S236F|STAMBP_ENST00000536064.1_Intron|STAMBP_ENST00000394073.1_Missense_Mutation_p.S236F|STAMBP_ENST00000409707.1_Missense_Mutation_p.S236F NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 236 JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 GTGGACAGGTCCTTGAAACCT 0.498000 8 41 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536024 31536024 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr22:31536024C>G ENST00000215885.3 - 1 569 c.317G>C c.(316-318)aGa>aCa p.R106T NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 106 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 GGCCAGTGCTCTCTGCAGCTC 0.642000 10 17 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144803417 144803417 + Missense_Mutation SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr8:144803417G>T ENST00000338033.4 + 11 1159 c.1040G>T c.(1039-1041)gGa>gTa p.G347V NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 347 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTGGAGTGTGGAGGCAGCAGC 0.652000 31 64 7.11191e-15 7.66752e-15 1 1 0 NDNL2 56160 broad.mit.edu 37 15 29561448 29561448 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr15:29561448G>A ENST00000332303.4 - 1 585 c.462C>T c.(460-462)ctC>ctT p.L154L FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 154 MAGE. regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGGTGTTGATGAGGATGTAAG 0.567000 3 26 0 0 1 0 0 MRPL20 55052 broad.mit.edu 37 1 1342378 1342378 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:1342378G>C ENST00000482352.1 - 2 181 c.109C>G c.(109-111)Cgc>Ggc p.R37G MRPL20_ENST00000344843.7_Missense_Mutation_p.R37G Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 37 protein binding|rRNA binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CTGTAGCAGCGATTTTTCCTT 0.597000 43 100 0 0 1 0 0 OXSM 54995 broad.mit.edu 37 3 25835623 25835623 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr3:25835623G>C ENST00000280701.3 + 3 1117 c.1018G>C c.(1018-1020)Gag>Cag p.E340Q OXSM_ENST00000420173.2_Missense_Mutation_p.E257Q NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 340 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity p.E340K(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TGTGCAGCCTGAGGAGATATC 0.378000 11 50 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703011 4703011 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:4703011C>G ENST00000396950.3 - 2 1170 c.931G>C c.(931-933)Gac>Cac p.D311H NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AAGTCCTTGTCACAGCTGATC 0.443000 17 60 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75269286 75269286 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr14:75269286G>A ENST00000325680.7 + 6 4552 c.4428G>A c.(4426-4428)atG>atA p.M1476I YLPM1_ENST00000238571.3_Missense_Mutation_p.M1281I|YLPM1_ENST00000552421.1_Missense_Mutation_p.M770I NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1281 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) TTCAAAAGATGAAAGACTTCG 0.393000 21 36 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023369 18023369 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:18023369C>T ENST00000205890.5 + 2 1593 c.1255C>T c.(1255-1257)Ccg>Tcg p.P419S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 419 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ACCGCCCATCCCGTCGCCCCA 0.662000 14 35 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8076560 8076560 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr18:8076560G>A ENST00000332175.8 + 9 2586 c.1549G>A c.(1549-1551)Gag>Aag p.E517K PTPRM_ENST00000580170.1_Missense_Mutation_p.E517K|PTPRM_ENST00000444013.1_Missense_Mutation_p.E304K|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.E517K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E455K NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 517 Fibronectin type-III 3. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CACTTTATATGAGGTAATATA 0.294000 6 30 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201437743 201437743 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:201437743G>A ENST00000357799.4 + 7 2772 c.2674G>A c.(2674-2676)Gat>Aat p.D892N NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 892 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 GTATGTTACTGATAGGAAATC 0.294000 19 83 0 0 1 0 0 CKS2 1164 broad.mit.edu 37 9 91930175 91930175 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr9:91930175G>C ENST00000314355.6 + 2 245 c.150G>C c.(148-150)caG>caC p.Q50H NM_001827.1 NP_001818.1 P33552 CKS2_HUMAN CDC28 protein kinase regulatory subunit 2 50 cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization cyclin-dependent protein kinase regulator activity kidney(1)|large_intestine(1) 2 GTGTCCAACAGAGTCTAGGCT 0.403000 44 66 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87971439 87971439 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:87971439G>C ENST00000369577.3 + 8 8135 c.8092G>C c.(8092-8094)Gaa>Caa p.E2698Q ZNF292_ENST00000339907.4_Missense_Mutation_p.E2693Q NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2698 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GAAAAAACTTGAAGTACATTC 0.323000 5 28 0 0 1 0 0 HELLS 3070 broad.mit.edu 37 10 96306226 96306226 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:96306226C>G ENST00000348459.5 + 2 229 c.124C>G c.(124-126)Cta>Gta p.L42V HELLS_ENST00000394036.1_Missense_Mutation_p.L42V|HELLS_ENST00000394044.1_Missense_Mutation_p.L42V|HELLS_ENST00000371332.4_Missense_Mutation_p.L42V|HELLS_ENST00000239026.6_Missense_Mutation_p.L42V|HELLS_ENST00000394045.1_Missense_Mutation_p.L42V NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 42 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) AGCTGCTGGACTAGAGAGAGA 0.532000 15 46 0 0 1 0 0 CXCL17 284340 broad.mit.edu 37 19 42946982 42946982 + Translation_Start_Site SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr19:42946982C>T ENST00000601181.1 - 1 218 c.3G>A c.(1-3)atG>atA p.M1I LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_198477.1 NP_940879.1 Q6UXB2 VCC1_HUMAN chemokine (C-X-C motif) ligand 17 1 angiogenesis|cell differentiation|chemotaxis extracellular region large_intestine(2)|skin(1) 3 Prostate(69;0.00899) TTAGAACTTTCATCGCAACTG 0.493000 3 28 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16534271 16534271 + Splice_Site SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:16534271C>T ENST00000270747.3 - 4 832 c.696G>A c.(694-696)ggG>ggA p.G232G NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 232 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CAGATGCTTTCCCTGGAGAGG 0.692000 9 35 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73647280 73647280 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:73647280G>A ENST00000420326.2 - 8 1374 c.1215C>T c.(1213-1215)ttC>ttT p.F405F RECQL5_ENST00000423245.2_Silent_p.F378F|RECQL5_ENST00000340830.5_Silent_p.F405F|RECQL5_ENST00000584999.1_Silent_p.F405F|RECQL5_ENST00000317905.5_Silent_p.F405F NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 405 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GTTCTTCACAGAAGGTCACCA 0.438000 Other identified genes with known or suspected DNA repair function 191 351 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79570892 79570892 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr10:79570892C>T ENST00000372391.2 - 23 4428 c.4423G>A c.(4423-4425)Gag>Aag p.E1475K DLG5_ENST00000372388.2_Missense_Mutation_p.E1135K|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1475 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTAGGCCCCTCGTCCTGCTCC 0.657000 5 36 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32956369 32956369 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:32956369G>A ENST00000399302.2 + 4 3513 c.3178G>A c.(3178-3180)Gaa>Aaa p.E1060K QSER1_ENST00000527788.1_Missense_Mutation_p.E821K NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1060 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) TGTCAAGATTGAAGAAGAAAA 0.438000 9 62 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18152290 18152290 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:18152290C>G ENST00000375406.1 + 3 593 c.377C>G c.(376-378)tCg>tGg p.S126W NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 126 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CATGTCCCATCGGTCCTCCTG 0.582000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 14 0 0 1 0 0 RABGGTB 5876 broad.mit.edu 37 1 76259853 76259853 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:76259853C>T ENST00000319942.3 + 8 861 c.790C>T c.(790-792)Cgt>Tgt p.R264C RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Missense_Mutation_p.R90C NM_004582.3 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase, beta subunit 264 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1) 19 AGAGAAACTGCGTAATTTCAT 0.388000 33 104 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78320894 78320894 + Nonsense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:78320894C>G ENST00000582970.1 + 29 8902 c.8759C>G c.(8758-8760)tCa>tGa p.S2920* RNF213_ENST00000508628.2_Nonsense_Mutation_p.S2969*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.S993* NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ATCTGCTCCTCAGACATCCTC 0.567000 9 16 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51190225 51190225 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr14:51190225G>A ENST00000245441.5 - 31 6548 c.6358C>T c.(6358-6360)Ctg>Ttg p.L2120L NIN_ENST00000530997.2_Silent_p.L2120L|NIN_ENST00000389868.3_3'UTR NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1967 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) GCTGGTGTCAGATTCCTAACT 0.428000 T PDGFRB MPD 23 29 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26873469 26873469 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr1:26873469G>C ENST00000374168.2 + 3 374 c.220G>C c.(220-222)Ggc>Cgc p.G74R RPS6KA1_ENST00000526792.1_5'UTR|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.G74R|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.G83R|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.G58R NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 74 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GGGATCCTTTGGCAAAGTGAG 0.557000 12 27 0 0 1 0 0 WDR76 79968 broad.mit.edu 37 15 44120407 44120407 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr15:44120407C>G ENST00000263795.6 + 2 375 c.305C>G c.(304-306)tCt>tGt p.S102C WDR76_ENST00000381246.2_Missense_Mutation_p.S38C NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 102 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) AAAAACACATCTTCCAAGGCA 0.393000 7 72 0 0 1 0 0 RRP1 8568 broad.mit.edu 37 21 45219498 45219498 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr21:45219498G>A ENST00000497547.1 + 9 976 c.859G>A c.(859-861)Gac>Aac p.D287N RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 287 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) GCAGGCAGGTGACGACAGGGA 0.642000 3 12 0 0 1 0 0 DDX6 1656 broad.mit.edu 37 11 118656795 118656795 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:118656795G>C ENST00000264018.4 - 2 471 c.166C>G c.(166-168)Cag>Gag p.Q56E DDX6_ENST00000534980.1_Missense_Mutation_p.Q56E|DDX6_ENST00000526070.2_Missense_Mutation_p.Q56E NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 56 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) GCTTGCTGCTGAGTGCCATTA 0.448000 T IGH@ B-NHL 13 65 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43184229 43184229 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:43184229C>G ENST00000252050.4 + 31 6354 c.6270C>G c.(6268-6270)caC>caG p.H2090Q RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.H2062Q|CUL9_ENST00000354495.3_Missense_Mutation_p.H1980Q NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 2090 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GCTGCATGCACTATTGCTGTA 0.592000 23 94 0 0 1 0 0 YAP1 10413 broad.mit.edu 37 11 102076777 102076777 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr11:102076777G>A ENST00000282441.5 + 5 1344 c.956G>A c.(955-957)cGg>cAg p.R319Q YAP1_ENST00000537274.1_Missense_Mutation_p.R319Q|YAP1_ENST00000526343.1_Missense_Mutation_p.R281Q|YAP1_ENST00000531439.1_Missense_Mutation_p.R319Q|YAP1_ENST00000524575.1_Missense_Mutation_p.R141Q|YAP1_ENST00000345877.2_Missense_Mutation_p.R281Q NM_001130145.2|NM_001282101.1 NP_001123617.1|NP_001269030.1 P46937 YAP1_HUMAN Yes-associated protein 1 319 Transactivation domain. cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) GAGAGGCTGCGGCTGAAACAG 0.547000 5 40 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51065763 51065763 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr22:51065763C>T ENST00000547307.1 - 2 695 c.290G>A c.(289-291)cGg>cAg p.R97Q ARSA_ENST00000216124.5_Missense_Mutation_p.R99Q|ARSA_ENST00000547805.1_Missense_Mutation_p.R97Q|ARSA_ENST00000356098.5_Missense_Mutation_p.R99Q|ARSA_ENST00000453344.2_Missense_Mutation_p.R13Q|ARSA_ENST00000395619.3_Missense_Mutation_p.R99Q|ARSA_ENST00000395621.3_Missense_Mutation_p.R99Q P15289 ARSA_HUMAN arylsulfatase A 97 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CAGGCCCCCCCGGGAGCTGGG 0.706000 3 3 0 0 1 0 0 DTWD1 56986 broad.mit.edu 37 15 49924441 49924441 + Missense_Mutation SNP A A C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr15:49924441A>C ENST00000251250.6 + 4 557 c.350A>C c.(349-351)gAa>gCa p.E117A DTWD1_ENST00000403028.3_Missense_Mutation_p.E117A|DTWD1_ENST00000558653.1_Missense_Mutation_p.E117A|DTWD1_ENST00000415425.1_Missense_Mutation_p.E30A|DTWD1_ENST00000559223.1_3'UTR NM_020234.5 NP_064619.2 Q8N5C7 DTWD1_HUMAN DTW domain containing 1 117 endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) TTAGCACCTGAATTTGTAAAC 0.323000 4 52 0 0 1 0 0 NSDHL 50814 broad.mit.edu 37 X 152031185 152031185 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chrX:152031185G>A ENST00000370274.3 + 5 654 c.460G>A c.(460-462)Gat>Aat p.D154N NSDHL_ENST00000440023.1_Missense_Mutation_p.D154N NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 154 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) TGAGGGCGTCGATATCAAGAA 0.408000 32 27 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563664 140563664 + Silent SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:140563664C>T ENST00000361016.2 + 1 2685 c.1530C>T c.(1528-1530)aaC>aaT p.N510N NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 510 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGCAGACAACGGCCACCTGT 0.682000 9 54 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7559514 7559514 + Nonsense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:7559514C>T ENST00000379802.3 + 4 819 c.478C>T c.(478-480)Cga>Tga p.R160* DSP_ENST00000418664.2_Nonsense_Mutation_p.R160* NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 160 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.R160G(1) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CAGTGTCCCTCGAGTCCGCAG 0.507000 44 184 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102551163 102551163 + Missense_Mutation SNP T T A rs55793809 byFrequency TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr14:102551163T>A ENST00000334701.7 - 6 1483 c.1202A>T c.(1201-1203)aAg>aTg p.K401M HSP90AA1_ENST00000441629.2_Missense_Mutation_p.K100M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.K279M NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 279 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) ttccttaatcttcttcttctt 0.393000 16 21 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100176889 100176889 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr2:100176889C>T ENST00000409236.2 - 19 3241 c.3129G>A c.(3127-3129)atG>atA p.M1043I AFF3_ENST00000317233.4_Missense_Mutation_p.M1043I|AFF3_ENST00000356421.2_Missense_Mutation_p.M1068I|AFF3_ENST00000409579.1_Missense_Mutation_p.M1068I P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TTTTTAGTCTCATAGCATACC 0.413000 11 44 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41160299 41160300 + Frame_Shift_Del DEL AC AC - TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr5:41160299_41160300delAC ENST00000263413.3 - 11 1892_1893 c.1628_1629delGT c.(1627-1629)tgtfs p.C543fs C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 543 EGF-like. 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) TGCCACTCTGACACACACACAG 0.475 8 241 --- --- --- --- BRD2 6046 broad.mit.edu 37 6 32942379 32942379 + Frame_Shift_Del DEL C C - rs141240562 TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr6:32942379delC ENST00000395289.2 + 3 1771 c.170delC c.(169-171)accfs p.T57fs BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000374831.4_Frame_Shift_Del_p.T57fs|BRD2_ENST00000374825.4_Frame_Shift_Del_p.T57fs|BRD2_ENST00000395287.1_Frame_Shift_Del_p.T57fs|BRD2_ENST00000449085.2_Frame_Shift_Del_p.T10fs P25440 BRD2_HUMAN bromodomain containing 2 57 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TTGCAACTTACCCCTGCCAAC 0.547 10 54 --- --- --- --- COG6 57511 broad.mit.edu 37 13 40298699 40298700 + Splice_Site INS - - T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr13:40298699_40298700insT ENST00000416691.1 + 17 1846 c.e17+1 COG6_ENST00000455146.3_Splice_Site NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) GGCTGCAATGGTAAGTGTATAA 0.312 22 63 --- --- --- --- NMT1 4836 broad.mit.edu 37 17 43182233 43182233 + Frame_Shift_Del DEL T T - TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr17:43182233delT ENST00000592782.1 + 12 1470 c.1339delT c.(1339-1341)tttfs p.F447fs NMT1_ENST00000258960.2_Frame_Shift_Del_p.F447fs P30419 NMT1_HUMAN N-myristoyltransferase 1 447 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) GCAGAAAGGGTTTGATGTGTT 0.498 8 49 --- --- --- --- IGLV3-12 28802 broad.mit.edu 37 22 23114749 23114750 + RNA DEL TT TT - rs74864698 TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e88ced54-85f4-4dd8-bcf9-5e65b3528783 18fbf76a-413c-43fb-a0b2-8ab13184e11c g.chr22:23114749_23114750delTT ENST00000390313.2 + 0 55 CATCCTCTCCTTTTTTTTTTTT 0.500 4 2 --- --- --- ---