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 INPP5B 3633 broad.mit.edu 37 1 38328017 38328017 + Missense_Mutation SNP A A C TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr1:38328017A>C ENST00000373023.2 - 24 3045 c.2952T>G c.(2950-2952)ttT>ttG p.F984L INPP5B_ENST00000373026.1_Missense_Mutation_p.F984L|INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 984 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACTGGTGAATAAATTCTTGAG 0.458 13 38 --- --- --- --- CAD 790 broad.mit.edu 37 2 27449052 27449052 + Missense_Mutation SNP A A G TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr2:27449052A>G ENST00000264705.4 + 13 2058 c.1896A>G c.(1894-1896)atA>atG p.I632M CAD_ENST00000403525.1_Intron NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 632 ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GTGAGTCCATAGTGGTGGCCC 0.567 18 29 --- --- --- --- CD8B 926 broad.mit.edu 37 2 87085245 87085245 + Missense_Mutation SNP A A C TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr2:87085245A>C ENST00000390655.6 - 2 396 c.338T>G c.(337-339)aTc>aGc p.I113S CD8B_ENST00000393759.2_Missense_Mutation_p.I113S|CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000349455.3_Missense_Mutation_p.I113S|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S NM_004931.4 NP_004922.1 P10966 CD8B_HUMAN CD8b molecule 113 Ig-like V-type. immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 GCAGAAGTAGATGCCACTGTC 0.542 40 33 --- --- --- --- IL36RN 26525 broad.mit.edu 37 2 113819703 113819703 + Missense_Mutation SNP G G C TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr2:113819703G>C ENST00000393200.2 + 4 279 c.118G>C c.(118-120)Gaa>Caa p.E40Q IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 40 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TCCCACAGGTGAAGAGATCAG 0.632 7 8 --- --- --- --- CCR2 729230 broad.mit.edu 37 3 46399612 46399612 + Missense_Mutation SNP G G C TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr3:46399612G>C ENST00000292301.4 + 2 1079 c.594G>C c.(592-594)tgG>tgC p.W198C CCR2_ENST00000445132.2_Missense_Mutation_p.W198C|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.W198C NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 198 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CACGAGGATGGAATAATTTCC 0.463 5 178 --- --- --- --- SNX4 8723 broad.mit.edu 37 3 125176113 125176113 + Silent SNP A A G TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr3:125176113A>G ENST00000251775.4 - 11 1065 c.1041T>C c.(1039-1041)acT>acC p.T347T SNX4_ENST00000536067.1_Silent_p.T202T NM_003794.2 NP_003785.1 O95219 SNX4_HUMAN sorting nexin 4 347 cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1) 11 TACTCACCCCAGTTACCAGTT 0.473 4 57 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57181641 57181641 + Missense_Mutation SNP C C A TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr4:57181641C>A ENST00000504228.1 + 6 2078 c.1973C>A c.(1972-1974)tCt>tAt p.S658Y KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y Q6ZU35 K1211_HUMAN KIAA1211 658 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CGCCAGGAGTCTCCCAGCAGC 0.677 5 16 --- --- --- --- HLA-DQA2 3118 broad.mit.edu 37 6 32714045 32714045 + Silent SNP G G A TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr6:32714045G>A ENST00000374940.3 + 4 744 c.642G>A c.(640-642)gaG>gaA p.E214E NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 214 Connecting peptide. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTATGTCAGAGCTCACAGAGA 0.557 23 51 --- --- --- --- ETV1 2115 broad.mit.edu 37 7 13975392 13975392 + Silent SNP G G A TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr7:13975392G>A ENST00000343495.5 - 7 1179 c.441C>T c.(439-441)ttC>ttT p.F147F ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000403527.1_Silent_p.F125F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000242066.5_Silent_p.F147F|ETV1_ENST00000405218.2_Silent_p.F165F|ETV1_ENST00000430479.1_Silent_p.F165F|ETV1_ENST00000420159.2_Silent_p.F107F|ETV1_ENST00000476720.2_5'UTR P50549 ETV1_HUMAN ets variant 1 165 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GGTGAGCTGGGAAGGCCCGGT 0.552 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 84 70 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27650318 27650318 + Missense_Mutation SNP C C A TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr8:27650318C>A ENST00000305188.8 + 9 1725 c.1487C>A c.(1486-1488)cCc>cAc p.P496H ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 496 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) ATTGCAGAACCCATCAAACAG 0.328 SC Phocomelia syndrome 14 8 --- --- --- --- PEX2 5828 broad.mit.edu 37 8 77895648 77895648 + Missense_Mutation SNP G G A TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr8:77895648G>A ENST00000419564.2 - 4 1231 c.767C>T c.(766-768)aCc>aTc p.T256I PEX2_ENST00000520103.1_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I|PEX2_ENST00000357039.4_Missense_Mutation_p.T256I NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 256 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 ACATCCTATGGTGTGAGGCAT 0.433 17 92 --- --- --- --- ZNF483 158399 broad.mit.edu 37 9 114304902 114304902 + Missense_Mutation SNP A A T TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr9:114304902A>T ENST00000309235.5 + 6 1845 c.1687A>T c.(1687-1689)Agc>Tgc p.S563C ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 563 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 CTTCAGTCATAGCTCATCCCT 0.408 12 54 --- --- --- --- AP3M1 26985 broad.mit.edu 37 10 75896496 75896496 + Missense_Mutation SNP T T G TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr10:75896496T>G ENST00000355264.4 - 3 650 c.339A>C c.(337-339)ttA>ttC p.L113F AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F NM_012095.4 NP_036227.1 Q9Y2T2 AP3M1_HUMAN adaptor-related protein complex 3, mu 1 subunit 113 protein targeting to lysosome|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus|lysosome protein binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 13 Prostate(51;0.0112) ACATTTCTTCTAAGAGTTCAT 0.358 10 29 --- --- --- --- CCDC172 374355 broad.mit.edu 37 10 118117378 118117378 + Missense_Mutation SNP G G T TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr10:118117378G>T ENST00000333254.3 + 7 832 c.581G>T c.(580-582)tGt>tTt p.C194F NM_198515.2 NP_940917.1 coiled-coil domain containing 172 GAATCCATTTGTACTACCAAA 0.274 3 22 --- --- --- --- KNDC1 85442 broad.mit.edu 37 10 135025035 135025035 + Missense_Mutation SNP G G T TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr10:135025035G>T ENST00000304613.3 + 22 4039 c.4018G>T c.(4018-4020)Ggg>Tgg p.G1340W KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1340 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TCGGAACAGCGGGCTGCTGGG 0.667 30 40 --- --- --- --- PIWIL1 9271 broad.mit.edu 37 12 130841508 130841508 + Missense_Mutation SNP G G T TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr12:130841508G>T ENST00000245255.3 + 13 1722 c.1450G>T c.(1450-1452)Ggt>Tgt p.G484C NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 484 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) AGAAACAAGAGGTGCACCATT 0.353 6 39 --- --- --- --- PIWIL1 9271 broad.mit.edu 37 12 130851735 130851735 + Missense_Mutation SNP G G C TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr12:130851735G>C ENST00000245255.3 + 19 2525 c.2253G>C c.(2251-2253)caG>caC p.Q751H PIWIL1_ENST00000541480.1_3'UTR NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 751 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) TTTTTGCTCAGTCTGGAGGAA 0.398 40 46 --- --- --- --- VRTN 55237 broad.mit.edu 37 14 74824966 74824966 + Missense_Mutation SNP C C T rs144045913 TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr14:74824966C>T ENST00000256362.4 + 2 1721 c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 494 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CCCTCCCGCCCCCGGGGAGCT 0.652 16 39 --- --- --- --- SERPINA9 327657 broad.mit.edu 37 14 94929536 94929536 + Missense_Mutation SNP G G T TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr14:94929536G>T ENST00000337425.5 - 5 1276 c.1202C>A c.(1201-1203)tCt>tAt p.S401Y SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S383Y|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 383 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) AGTGAAGTAAGAGGGGCCATC 0.488 8 48 --- --- --- --- SLC12A6 9990 broad.mit.edu 37 15 34527452 34527452 + Silent SNP C C T TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr15:34527452C>T ENST00000354181.3 - 25 3783 c.3291G>A c.(3289-3291)aaG>aaA p.K1097K SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000397707.2_Silent_p.K1082K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000558589.1_Silent_p.K1088K|SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000558667.1_Silent_p.K1097K|SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000560164.1_Silent_p.K909K Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 1097 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CTTCATGGGACTTGTTAACTA 0.458 9 18 --- --- --- --- ZNF646 9726 broad.mit.edu 37 16 31090753 31090753 + Silent SNP C C T TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr16:31090753C>T ENST00000394979.2 + 1 3531 c.3108C>T c.(3106-3108)ctC>ctT p.L1036L ZNF646_ENST00000300850.5_Silent_p.L1036L O15015 ZN646_HUMAN zinc finger protein 646 1036 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GAGACAGCCTCTGCATCCAGG 0.597 64 52 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69786182 69786182 + Missense_Mutation SNP A A G TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr16:69786182A>G ENST00000268802.5 - 3 318 c.289T>C c.(289-291)Ttt>Ctt p.F97L NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 97 PINc. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ACCCCAACAAACTCTGCTTCC 0.433 8 52 --- --- --- --- MYH1 4619 broad.mit.edu 37 17 10399704 10399704 + Missense_Mutation SNP C C A TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr17:10399704C>A ENST00000226207.5 - 34 4913 c.4819G>T c.(4819-4821)Gct>Tct p.A1607S CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1607 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTGATCTCAGCATCCAGTGTG 0.463 27 95 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696688 47696688 + Missense_Mutation SNP T T G TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr17:47696688T>G ENST00000393331.3 - 6 730 c.260A>C c.(259-261)tAc>tCc p.Y87S SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 87 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.Y87C(2)|p.Y87S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CAGTAACAGGTAAAGTGACAG 0.403 Prostate(2;0.17) 45 40 --- --- --- --- VAV1 7409 broad.mit.edu 37 19 6854100 6854100 + Silent SNP C C A TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr19:6854100C>A ENST00000304076.2 + 25 2503 c.2409C>A c.(2407-2409)atC>atA p.I803I VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000602142.1_Silent_p.I825I|VAV1_ENST00000599806.1_Silent_p.I770I|VAV1_ENST00000539284.1_Silent_p.I728I NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 825 SH3 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GAGGGGAGATCTATGGCCGGG 0.612 3 40 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45561124 45561124 + Missense_Mutation SNP A A C TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr19:45561124A>C ENST00000544944.2 + 6 1273 c.581A>C c.(580-582)aAc>aCc p.N194T CLASRP_ENST00000221455.3_Missense_Mutation_p.N194T|CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 194 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GAGGAGAGCAACTCGGACGAA 0.617 12 13 --- --- --- --- TRPC5 7224 broad.mit.edu 37 X 111095551 111095551 + Missense_Mutation SNP G G A TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chrX:111095551G>A ENST00000262839.2 - 5 2270 c.1352C>T c.(1351-1353)tCc>tTc p.S451F NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 451 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AATCTTCAGGGAAATAGTTGC 0.418 43 7 --- --- --- --- OCRL 4952 broad.mit.edu 37 X 128679013 128679013 + Splice_Site SNP A A C TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chrX:128679013A>C ENST00000371113.4 + 3 363 c.198A>C c.(196-198)caA>caC p.Q66H OCRL_ENST00000357121.5_Splice_Site_p.Q66H|OCRL_ENST00000486673.1_3'UTR NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 66 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GATGTGTTCAAGGTACTAGCT 0.333 23 2 --- --- --- --- ZDHHC5 25921 broad.mit.edu 37 11 57466440 57466440 + Frame_Shift_Del DEL A A - TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chr11:57466440delA ENST00000287169.3 + 11 2894 c.1532delA c.(1531-1533)gaafs p.E511fs ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 511 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 CAGCAACGGGAAGCTGAGAGG 0.602 14 31 --- --- --- --- F8 2157 broad.mit.edu 37 X 154158843 154158844 + Frame_Shift_Ins INS - - T TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30158a14-c275-4022-a8d7-5c2f2df1e740 5100841d-0d49-4d3b-8acc-9373b2fcb95a g.chrX:154158843_154158844insT ENST00000360256.4 - 14 3421_3422 c.3221_3222insA c.(3220-3222)aatfs p.N1074fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1074 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAGCTGTAGCATTTTTGTCCAT 0.356 42 27 --- --- --- ---