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 MIIP 60672 broad.mit.edu 37 1 12090150 12090150 + Missense_Mutation SNP T T G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr1:12090150T>G ENST00000235332.4 + 8 1080 c.911T>G c.(910-912)tTt>tGt p.F304C MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 304 p.F304C(1) autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CGAAAGAGCTTTGACGCCTCT 0.697 14 38 --- --- --- --- EPS15 2060 broad.mit.edu 37 1 51826841 51826841 + Splice_Site SNP A A G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr1:51826841A>G ENST00000371733.3 - 24 2641 c.e24+1 EPS15_ENST00000396122.4_Splice_Site|EPS15_ENST00000371730.2_Splice_Site NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2)|p.?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 CACAGTACTTACAGCACTGAA 0.358 T MLL ALL 40 128 --- --- --- --- CNNM4 26504 broad.mit.edu 37 2 97464910 97464910 + Missense_Mutation SNP C C A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr2:97464910C>A ENST00000377075.2 + 4 1896 c.1798C>A c.(1798-1800)Cat>Aat p.H600N CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N|CNNM4_ENST00000496186.1_3'UTR NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 600 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane p.H600N(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CTACGCCCGCCATTACCTGTA 0.567 9 94 --- --- --- --- SCN3A 6328 broad.mit.edu 37 2 165970412 165970412 + Missense_Mutation SNP G G T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr2:165970412G>T ENST00000360093.3 - 20 4074 c.3583C>A c.(3583-3585)Ctt>Att p.L1195I SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1195 voltage-gated sodium channel complex voltage-gated sodium channel activity p.L1195I(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GTTTTTCGAAGATTCCACCAG 0.343 7 289 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233620970 233620970 + Missense_Mutation SNP T T C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr2:233620970T>C ENST00000373566.3 + 6 502 c.305T>C c.(304-306)cTg>cCg p.L102P GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 102 cell death protein binding p.L102P(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GCTGCTGTCCTGCGATTGACA 0.393 3 78 --- --- --- --- AGTR1 185 broad.mit.edu 37 3 148458896 148458896 + Missense_Mutation SNP A A C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr3:148458896A>C ENST00000542281.1 + 4 520 c.74A>C c.(73-75)aAt>aCt p.N25T AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000497524.1_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 25 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity p.N25T(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GGAAGGCATAATTACATATTT 0.353 24 168 --- --- --- --- DGKQ 1609 broad.mit.edu 37 4 956989 956989 + Missense_Mutation SNP G G T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr4:956989G>T ENST00000273814.3 - 16 1897 c.1824C>A c.(1822-1824)agC>agA p.S608R DGKQ_ENST00000502309.1_5'UTR NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 608 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding p.S608R(1) breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCTTCCGGAAGCTGCAGAGCA 0.627 3 49 --- --- --- --- FRAS1 80144 broad.mit.edu 37 4 79458218 79458218 + Missense_Mutation SNP T T A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr4:79458218T>A ENST00000264895.6 + 72 11602 c.11162T>A c.(11161-11163)cTg>cAg p.L3721Q NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3716 cell communication integral to membrane|plasma membrane metal ion binding p.L3721Q(2)|p.L3722Q(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AAACTCCAGCTGGAGAAAGTC 0.418 32 238 --- --- --- --- ADAMTS16 170690 broad.mit.edu 37 5 5303543 5303543 + Silent SNP G G A rs35200003 TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr5:5303543G>A ENST00000274181.7 + 19 3090 c.2952G>A c.(2950-2952)caG>caA p.Q984Q NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 984 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Q984Q(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCAACTCTCAGAGCTGCCCAC 0.677 4 15 --- --- --- --- BMP6 654 broad.mit.edu 37 6 7845502 7845502 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr6:7845502G>A ENST00000283147.6 + 2 953 c.794G>A c.(793-795)gGg>gAg p.G265E NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 265 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.G265E(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) TGTGTTATGGGGAGTTTTAAA 0.473 13 164 --- --- --- --- TFAP2D 83741 broad.mit.edu 37 6 50740431 50740431 + Missense_Mutation SNP A A G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr6:50740431A>G ENST00000008391.3 + 8 1441 c.1213A>G c.(1213-1215)Atg>Gtg p.M405V NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 405 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity p.M405V(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TCTCAGTGAAATGCTGAACTA 0.478 33 94 --- --- --- --- FAM83B 222584 broad.mit.edu 37 6 54735045 54735045 + Translation_Start_Site SNP A A T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr6:54735045A>T ENST00000306858.7 + 2 117 c.1A>T c.(1-3)Atg>Ttg p.M1L NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 1 p.M1L(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ACTTGCAAGCATGGAGACCTC 0.378 19 175 --- --- --- --- LGSN 51557 broad.mit.edu 37 6 63990299 63990299 + Missense_Mutation SNP T T C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr6:63990299T>C ENST00000370657.4 - 4 1190 c.1157A>G c.(1156-1158)tAc>tGc p.Y386C LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 386 glutamine biosynthetic process glutamate-ammonia ligase activity p.Y386C(2) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GTTGTCATTGTATCCCCATGT 0.468 132 299 --- --- --- --- PRPS1L1 221823 broad.mit.edu 37 7 18067240 18067240 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr7:18067240C>T ENST00000506618.2 - 1 246 c.166G>A c.(166-168)Gtt>Att p.V56I NM_175886.2 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 56 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity p.V56I(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) CCACTCTGAACGATGTAGACA 0.488 9 533 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91631337 91631337 + Silent SNP A A G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr7:91631337A>G ENST00000359028.2 + 9 2367 c.2142A>G c.(2140-2142)ctA>ctG p.L714L AKAP9_ENST00000358100.2_Silent_p.L714L|AKAP9_ENST00000356239.3_Silent_p.L702L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 714 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.L714L(1)|p.L702L(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTTCAAAGCTAAAAGATTTAC 0.289 T BRAF papillary thyroid 3 101 --- --- --- --- STAG3 10734 broad.mit.edu 37 7 99795408 99795408 + Missense_Mutation SNP A A T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr7:99795408A>T ENST00000426455.1 + 11 1480 c.1073A>T c.(1072-1074)gAa>gTa p.E358V STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V|STAG3_ENST00000317296.5_Missense_Mutation_p.E358V NM_001282716.1 NP_001269645.1 Q9UJ98 STAG3_HUMAN stromal antigen 3 358 SCD. chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding p.E358V(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGCACCGAGAAGTCCGCCTG 0.562 8 146 --- --- --- --- DEFB135 613209 broad.mit.edu 37 8 11841989 11841989 + Missense_Mutation SNP G G T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr8:11841989G>T ENST00000382208.2 + 2 124 c.124G>T c.(124-126)Ggt>Tgt p.G42C NM_001033017.2 NP_001028189.2 Q30KP9 DB135_HUMAN defensin, beta 135 42 defense response to bacterium extracellular region p.G42C(1) endometrium(1)|large_intestine(2)|prostate(1) 4 GCGACTGCAAGGTACTTGCCG 0.383 4 136 --- --- --- --- PTDSS1 9791 broad.mit.edu 37 8 97342509 97342509 + Splice_Site SNP G G T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr8:97342509G>T ENST00000517309.1 + 11 1568 c.1242G>T c.(1240-1242)aaG>aaT p.K414N PTDSS1_ENST00000522072.1_Splice_Site_p.K211N|PTDSS1_ENST00000455950.2_Splice_Site_p.K268N NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 414 phosphatidylserine biosynthetic process integral to membrane transferase activity p.K414N(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) ACCGAGAAAAGGTATGGAAGG 0.473 4 93 --- --- --- --- ABHD17B 51104 broad.mit.edu 37 9 74485071 74485071 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr9:74485071G>A ENST00000333421.6 - 3 686 c.575C>T c.(574-576)tCt>tTt p.S192F ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F NM_001025780.1 NP_001020951.1 abhydrolase domain containing 17B p.S192F(1) AGTCAGAGGAGAATGAAGAAT 0.408 74 225 --- --- --- --- TBC1D2 55357 broad.mit.edu 37 9 100995790 100995790 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr9:100995790C>T ENST00000375066.5 - 4 780 c.689G>A c.(688-690)gGa>gAa p.G230E TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E|TBC1D2_ENST00000375064.1_Missense_Mutation_p.G230E NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 230 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity p.G230E(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) ATGGCCTGTTCCCTGGGCCTG 0.587 24 245 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117852969 117852969 + Missense_Mutation SNP G G T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr9:117852969G>T ENST00000350763.4 - 2 740 c.329C>A c.(328-330)gCc>gAc p.A110D TNC_ENST00000346706.3_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000345230.3_Missense_Mutation_p.A110D NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 110 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.A110D(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACAGCCACAGGCCCGGCGGGG 0.587 64 531 --- --- --- --- NUCB2 4925 broad.mit.edu 37 11 17332484 17332484 + Missense_Mutation SNP A A C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr11:17332484A>C ENST00000529010.1 + 7 815 c.596A>C c.(595-597)aAg>aCg p.K199T NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T|NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T NM_005013.2 NP_005004 P80303 NUCB2_HUMAN nucleobindin 2 199 cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding p.K199T(1) kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AATGAAGAAAAGAGAAAAGAA 0.303 6 299 --- --- --- --- TMEM5 10329 broad.mit.edu 37 12 64173824 64173824 + Silent SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr12:64173824C>T ENST00000261234.6 + 1 242 c.84C>T c.(82-84)ttC>ttT p.F28F RP11-415I12.3_ENST00000509615.2_RNA NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 28 integral to plasma membrane p.F28F(1) breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) ACCACGTCTTCTTcgggcgcc 0.716 3 29 --- --- --- --- TBC1D15 64786 broad.mit.edu 37 12 72288542 72288542 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr12:72288542G>A ENST00000550746.1 + 8 849 c.785G>A c.(784-786)aGa>aAa p.R262K TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 262 protein binding|Rab GTPase activator activity p.R262K(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GACAGTTTGAGAGGCAGCGAT 0.368 5 200 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32912796 32912796 + Missense_Mutation SNP A A C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr13:32912796A>C ENST00000544455.1 + 11 4531 c.4304A>C c.(4303-4305)aAt>aCt p.N1435T BRCA2_ENST00000380152.3_Missense_Mutation_p.N1435T NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1435 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding p.N1435T(3) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGTGGGAAAAATATTAGTGTC 0.284 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 26 237 --- --- --- --- MYH6 4624 broad.mit.edu 37 14 23866411 23866411 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr14:23866411C>T ENST00000405093.3 - 17 2088 c.2018G>A c.(2017-2019)cGt>cAt p.R673H MYH6_ENST00000356287.3_Missense_Mutation_p.R673H NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 673 Actin-binding.|Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.R673H(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GATGATGCAACGCACAAAGTG 0.542 7 305 --- --- --- --- CLEC14A 161198 broad.mit.edu 37 14 38724734 38724734 + Missense_Mutation SNP C C A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr14:38724734C>A ENST00000342213.2 - 1 840 c.494G>T c.(493-495)cGc>cTc p.R165L NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 165 C-type lectin. integral to membrane sugar binding p.R165L(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GCCGTTGGCGCGCAGGTGGCA 0.682 16 52 --- --- --- --- ARG2 384 broad.mit.edu 37 14 68113409 68113409 + Missense_Mutation SNP G G C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr14:68113409G>C ENST00000261783.3 + 5 751 c.571G>C c.(571-573)Gca>Cca p.A191P ARG2_ENST00000556491.1_3'UTR NM_001172.3 NP_001163.1 P78540 ARGI2_HUMAN arginase 2 191 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding p.A191P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1) 11 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) TATCTCTTCTGCAAGTATTGT 0.423 7 239 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30991347 30991347 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr16:30991347G>A ENST00000262519.8 + 14 4926 c.4240G>A c.(4240-4242)Gcc>Acc p.A1414T NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1414 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding p.A1414T(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 accgccccgcgccTACGAGCC 0.687 7 14 --- --- --- --- ZNF423 23090 broad.mit.edu 37 16 49669876 49669876 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr16:49669876G>A ENST00000561648.1 - 4 3240 c.3187C>T c.(3187-3189)Ctc>Ttc p.L1063F ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1063 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.L1063F(3) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CACTTGTAGAGCTTCTGCAGC 0.627 3 28 --- --- --- --- PHLPP2 23035 broad.mit.edu 37 16 71718485 71718485 + Missense_Mutation SNP C C A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr16:71718485C>A ENST00000393524.2 - 4 1362 c.629G>T c.(628-630)cGg>cTg p.R210L PHLPP2_ENST00000360429.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R210L|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R245L Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 210 PH. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity p.R210L(1) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 GGAGTATTGCCGTCGCTTCAC 0.473 3 76 --- --- --- --- DOT1L 84444 broad.mit.edu 37 19 2210728 2210728 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr19:2210728C>T ENST00000398665.3 + 14 1261 c.1225C>T c.(1225-1227)Cgc>Tgc p.R409C NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 409 Required for interaction with nucleosomes and DNA. nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding p.R409C(1) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GATGGCTGGCCGCAAGCGCGG 0.602 9 129 --- --- --- --- CDC45 8318 broad.mit.edu 37 22 19467485 19467485 + Translation_Start_Site SNP C C A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr22:19467485C>A ENST00000407835.1 + 0 250 CDC45_ENST00000404724.3_De_novo_Start_InFrame|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_De_novo_Start_InFrame|CDC45_ENST00000437685.2_De_novo_Start_InFrame O75419 CDC45_HUMAN cell division cycle 45 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 GTCCGGCCGCCGTGGCTATGT 0.672 6 68 --- --- --- --- CCDC39 339829 broad.mit.edu 37 3 180381743 180381743 + Frame_Shift_Del DEL A A - TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr3:180381743delA ENST00000273654.4 - 8 993 c.374delT c.(373-375)ttgfs p.L125fs CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L41fs Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 41 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTCATCTTGCAAGCTTGCTCT 0.338 35 141 --- --- --- ---