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 CROCC 9696 broad.mit.edu 37 1 17266574 17266574 + Missense_Mutation SNP C C A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr1:17266574C>A ENST00000375541.5 + 13 1863 c.1794C>A c.(1792-1794)aaC>aaA p.N598K CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 598 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGAGCGCCAACGAGCTCCTGA 0.647 3 10 --- --- --- --- IGKV2D-29 28882 broad.mit.edu 37 2 89987009 89987009 + RNA SNP C C A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr2:89987009C>A ENST00000491977.1 + 0 320 ACAGATTTCACACTGAAAATC 0.517 4 104 --- --- --- --- ST6GAL2 84620 broad.mit.edu 37 2 107459775 107459775 + Missense_Mutation SNP C C T TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr2:107459775C>T ENST00000409382.3 - 2 1269 c.659G>A c.(658-660)cGc>cAc p.R220H ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R220H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 220 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CTTCTGCAGGCGCGGGTTCAG 0.647 6 12 --- --- --- --- SLC25A12 8604 broad.mit.edu 37 2 172666119 172666119 + Silent SNP G G A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr2:172666119G>A ENST00000422440.2 - 13 1339 c.1302C>T c.(1300-1302)ggC>ggT p.G434G SLC25A12_ENST00000392592.4_Silent_p.G327G NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 434 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) TACTTACACAGCCTCCAGCAA 0.388 6 126 --- --- --- --- IL17RB 55540 broad.mit.edu 37 3 53892809 53892809 + Missense_Mutation SNP T T G TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr3:53892809T>G ENST00000288167.3 + 9 820 c.811T>G c.(811-813)Tgc>Ggc p.C271G NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 271 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) AGTTGTGCTCTGCCCACAAAC 0.493 4 55 --- --- --- --- PRICKLE2 166336 broad.mit.edu 37 3 64085458 64085458 + Missense_Mutation SNP C C T TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr3:64085458C>T ENST00000295902.6 - 8 2389 c.1804G>A c.(1804-1806)Gca>Aca p.A602T PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|PRICKLE2-AS1_ENST00000460946.1_RNA NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 602 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) ACTGACTCTGCGCTCCGGAAC 0.552 8 106 --- --- --- --- NME9 347736 broad.mit.edu 37 3 138024911 138024911 + Missense_Mutation SNP T T G TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr3:138024911T>G ENST00000383180.2 - 9 625 c.388A>C c.(388-390)Aca>Cca p.T130P NME9_ENST00000536478.1_Missense_Mutation_p.T130P|NME9_ENST00000317876.4_Missense_Mutation_p.T130P|NME9_ENST00000341790.5_Missense_Mutation_p.T128P|NME9_ENST00000333911.3_Missense_Mutation_p.T191P|NME9_ENST00000484930.1_Missense_Mutation_p.T128P NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 191 cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity TCTTCATTTGTTAGAATTTCA 0.363 4 69 --- --- --- --- KIAA0922 23240 broad.mit.edu 37 4 154510059 154510059 + Missense_Mutation SNP G G A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr4:154510059G>A ENST00000409663.3 + 16 1619 c.1567G>A c.(1567-1569)Ggg>Agg p.G523R KIAA0922_ENST00000409959.3_Missense_Mutation_p.G524R|KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 523 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) TAATTGGAATGGGAGCCTTTC 0.313 5 82 --- --- --- --- HMGCS1 3157 broad.mit.edu 37 5 43293008 43293008 + Silent SNP A A T TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr5:43293008A>T ENST00000325110.6 - 9 1457 c.1251T>A c.(1249-1251)ggT>ggA p.G417G HMGCS1_ENST00000433297.2_Silent_p.G417G NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 417 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 CTGGTGCCACACCAGTTCTTG 0.353 13 142 --- --- --- --- EMB 133418 broad.mit.edu 37 5 49706712 49706712 + Splice_Site SNP T T A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr5:49706712T>A ENST00000303221.5 - 4 686 c.471A>T c.(469-471)aaA>aaT p.K157N EMB_ENST00000514111.1_Splice_Site_p.K107N|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Splice_Site_p.K103N NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 157 Ig-like V-type 1. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) AATACTGACCTTTGAAATTAA 0.274 3 27 --- --- --- --- F2R 2149 broad.mit.edu 37 5 76028690 76028690 + Missense_Mutation SNP C C T TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr5:76028690C>T ENST00000319211.4 + 2 905 c.640C>T c.(640-642)Cgt>Tgt p.R214C NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 214 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) CCTCTCCTGGCGTACTCTGGG 0.537 6 139 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127653927 127653927 + Missense_Mutation SNP T T C TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr5:127653927T>C ENST00000508053.1 - 42 5605 c.4631A>G c.(4630-4632)aAt>aGt p.N1544S FBN2_ENST00000262464.4_Missense_Mutation_p.N1544S P35556 FBN2_HUMAN fibrillin 2 1544 EGF-like 26; 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) ACATAGGCCATTGACACAGTT 0.433 11 189 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130799890 130799890 + Missense_Mutation SNP T T C TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr5:130799890T>C ENST00000509018.1 - 18 2529 c.2324A>G c.(2323-2325)gAa>gGa p.E775G RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 775 Ras-associating. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AAAAACTACTTCTTTAGCTGT 0.373 15 43 --- --- --- --- NOTCH4 4855 broad.mit.edu 37 6 32180342 32180342 + Silent SNP C C A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr6:32180342C>A ENST00000375023.3 - 17 2727 c.2589G>T c.(2587-2589)ggG>ggT p.G863G NOTCH4_ENST00000465528.1_5'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 863 EGF-like 22. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGAAGGAGGGCCCAGTCTGGA 0.607 7 67 --- --- --- --- CUL9 23113 broad.mit.edu 37 6 43182853 43182853 + Missense_Mutation SNP G G C TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr6:43182853G>C ENST00000252050.4 + 30 5809 c.5725G>C c.(5725-5727)Gga>Cga p.G1909R RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.G1881R|CUL9_ENST00000354495.3_Missense_Mutation_p.G1799R NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1909 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 AAATCCTCCTGGAACCCTGGG 0.567 31 57 --- --- --- --- SLC26A4 5172 broad.mit.edu 37 7 107340565 107340565 + Missense_Mutation SNP C C A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr7:107340565C>A ENST00000265715.3 + 15 1876 c.1652C>A c.(1651-1653)tCc>tAc p.S551Y SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y|SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 551 STAS. regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CTTAGATTTTCCAGTCCTATT 0.308 Pendred syndrome 5 60 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70515888 70515888 + Missense_Mutation SNP G G C TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr8:70515888G>C ENST00000260128.4 + 12 1961 c.1244G>C c.(1243-1245)aGa>aCa p.R415T SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.R415T|SULF1_ENST00000419716.3_Missense_Mutation_p.R415T|SULF1_ENST00000458141.2_Missense_Mutation_p.R415T NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 415 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CTAGTGGAAAGAGGGTAATTA 0.398 3 46 --- --- --- --- DKK1 22943 broad.mit.edu 37 10 54076405 54076405 + Silent SNP C C A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr10:54076405C>A ENST00000373970.3 + 4 778 c.639C>A c.(637-639)gtC>gtA p.V213V NM_012242.2 NP_036374.1 O94907 DKK1_HUMAN dickkopf WNT signaling pathway inhibitor 1 213 DKK-type Cys-2. negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 16 GTAAACCTGTCCTGAAAGAAG 0.473 4 89 --- --- --- --- OR5T1 390155 broad.mit.edu 37 11 56043659 56043659 + Missense_Mutation SNP G G A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr11:56043659G>A ENST00000313033.2 + 1 631 c.545G>A c.(544-546)gGa>gAa p.G182E NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TCCTTCTGTGGATCCAATGAA 0.413 38 220 --- --- --- --- ZNF202 7753 broad.mit.edu 37 11 123597404 123597404 + Silent SNP C C A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr11:123597404C>A ENST00000336139.4 - 8 1610 c.1248G>T c.(1246-1248)ctG>ctT p.L416L ZNF202_ENST00000529691.1_Silent_p.L416L|ZNF202_ENST00000530393.1_Silent_p.L416L O95125 ZN202_HUMAN zinc finger protein 202 416 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TGTGAGTCCTCAGGTGTCTAA 0.473 12 104 --- --- --- --- RILPL2 196383 broad.mit.edu 37 12 123915096 123915096 + Silent SNP C C T TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr12:123915096C>T ENST00000280571.8 - 2 746 c.450G>A c.(448-450)tcG>tcA p.S150S NM_145058.1 NP_659495.1 Q969X0 RIPL2_HUMAN Rab interacting lysosomal protein-like 2 150 RILP-like. cytosol|plasma membrane identical protein binding endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168) CCAGGAGCTGCGACTTGAGTT 0.582 4 99 --- --- --- --- ZNF664 144348 broad.mit.edu 37 12 124496834 124496834 + Missense_Mutation SNP T T G TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr12:124496834T>G ENST00000539644.1 + 6 1973 c.143T>G c.(142-144)aTt>aGt p.I48S ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S|ZNF664_ENST00000392404.3_Missense_Mutation_p.I48S|FAM101A_ENST00000545615.1_Intron Q8N3J9 ZN664_HUMAN zinc finger protein 664 48 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) GAACTTCATATTCATTGGAGA 0.353 13 86 --- --- --- --- CEBPE 1053 broad.mit.edu 37 14 23586839 23586839 + Missense_Mutation SNP T T C TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr14:23586839T>C ENST00000206513.5 - 2 1227 c.703A>G c.(703-705)Aag>Gag p.K235E NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 235 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TCCAGCACCTTCTGCTGCGTC 0.622 7 53 --- --- --- --- IFT140 9742 broad.mit.edu 37 16 1570707 1570707 + Missense_Mutation SNP C C G TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr16:1570707C>G ENST00000426508.2 - 27 3919 c.3556G>C c.(3556-3558)Gag>Cag p.E1186Q IFT140_ENST00000361339.5_Missense_Mutation_p.E380Q NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1186 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CGCCGCGACTCCTCAGGCAGG 0.627 7 12 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 21139017 21139017 + Missense_Mutation SNP A A C TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr16:21139017A>C ENST00000261383.3 - 8 1198 c.1199T>G c.(1198-1200)cTt>cGt p.L400R DNAH3_ENST00000415178.1_Missense_Mutation_p.L400R|CTC-508F8.1_ENST00000575612.1_RNA NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 400 Stem (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) CTTGTTGAGAAGAGTCTGGTG 0.493 4 97 --- --- --- --- EFCAB5 374786 broad.mit.edu 37 17 28380700 28380700 + Silent SNP A A G rs34709422 TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr17:28380700A>G ENST00000394835.3 + 10 1920 c.1728A>G c.(1726-1728)caA>caG p.Q576Q EFCAB5_ENST00000394832.2_Silent_p.Q576Q|EFCAB5_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000541045.1_Silent_p.Q233Q|EFCAB5_ENST00000378738.3_Silent_p.Q576Q|EFCAB5_ENST00000536908.2_Silent_p.Q520Q NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 576 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CTACAGAACAAGGACAGCACA 0.453 5 101 --- --- --- --- CYGB 114757 broad.mit.edu 37 17 74527562 74527562 + Missense_Mutation SNP C C T TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr17:74527562C>T ENST00000293230.5 - 2 717 c.355G>A c.(355-357)Gtg>Atg p.V119M CYGB_ENST00000590175.1_Missense_Mutation_p.V54M|CYGB_ENST00000589342.1_Missense_Mutation_p.V119M|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M NM_134268.4 NP_599030.1 Q8WWM9 CYGB_HUMAN cytoglobin 119 Globin. response to oxidative stress cytoplasm heme binding|oxygen binding|oxygen transporter activity|peroxidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1) 7 ACCGGTTCCACCTTGTGCTTG 0.642 16 38 --- --- --- --- WDR7 23335 broad.mit.edu 37 18 54398817 54398817 + Missense_Mutation SNP G G A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr18:54398817G>A ENST00000254442.3 + 14 2189 c.1978G>A c.(1978-1980)Gca>Aca p.A660T WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A660T NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 660 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GGCTTCTGAGGCATCTGACAA 0.393 4 67 --- --- --- --- MIEF1 54471 broad.mit.edu 37 22 39908032 39908032 + Splice_Site SNP G G C TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr22:39908032G>C ENST00000325301.2 + 4 746 c.e4+1 MIEF1_ENST00000404569.1_Splice_Site|MIEF1_ENST00000402881.1_Splice_Site NM_019008.4 NP_061881.2 mitochondrial elongation factor 1 p.?(1) TTCGACACAGGTGAGAAGGGC 0.597 5 46 --- --- --- --- RPL5 6125 broad.mit.edu 37 1 93301888 93301890 + In_Frame_Del DEL GGC GGC - TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr1:93301888_93301890delGGC ENST00000370321.3 + 5 556_558 c.466_468delGGC c.(466-468)ggcdel p.G156del NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 156 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) AACTACCACTGGCAATAAAGTTT 0.493 14 114 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98234109 98234112 + Frame_Shift_Del DEL AACC AACC - TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr5:98234109_98234112delAACC ENST00000284049.3 - 9 1362_1365 c.1213_1216delGGTT c.(1213-1218)ggttatfs p.GY405fs NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 405 Chromo 2. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding p.G405V(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TAATCAGGATAACCAGCTGCTGAC 0.363 7 25 --- --- --- --- DDX5 1655 broad.mit.edu 37 17 62500099 62500102 + Splice_Site DEL ACAG ACAG - TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c27050c-aef0-4f06-b6c3-fedca13d658a eda129be-4306-443e-a904-e4d5d91c9eb7 g.chr17:62500099_62500102delACAG ENST00000225792.5 - 4 841_843 c.440_442delCTGT c.(439-444)tctgta>tta p.SV147fs DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 147 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TCCCAAACTTACAGACAATGTTTT 0.397 T ETV4 prostate 32 98 --- --- --- ---