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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PLEKHG5 57449 broad.mit.edu 37 1 6528318 6528318 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:6528318G>A uc001ano.1 - 21 2847 c.2746C>T c.(2746-2748)CGC>TGC p.R916C PLEKHG5_uc001ann.1_Missense_Mutation_p.R897C|PLEKHG5_uc001anq.1_Intron|PLEKHG5_uc001anp.1_Missense_Mutation_p.R937C|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.R421C|PLEKHG5_uc009vma.1_Missense_Mutation_p.R700C|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R929C|PLEKHG5_uc001ank.1_Missense_Mutation_p.R860C|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R860C|PLEKHG5_uc001anl.1_Missense_Mutation_p.R860C|PLEKHG5_uc001anm.1_Missense_Mutation_p.R860C|PLEKHG5_uc001anr.1_Missense_Mutation_p.R123C NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 916 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GGGGTGCGGCGGCGGAGACGG 0.677 NaN 0 0 0 0.021553 0 5 10 MACF1 23499 broad.mit.edu 37 1 39913530 39913530 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:39913530G>C uc010oiu.1 + 47 15388 c.15257G>C c.(15256-15258)AGA>ACA p.R5086T MACF1_uc010ois.1_Missense_Mutation_p.R4584T NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 6652 Spectrin 15. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCTATTGAAAGAGGGCGATCA 0.448 NaN 0 0 0 0.024245 0 15 46 LEPRE1 64175 broad.mit.edu 37 1 43215938 43215938 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:43215938G>A uc001chv.2 - 11 1752 c.1639C>T c.(1639-1641)CGC>TGC p.R547C LEPRE1_uc001chw.2_Missense_Mutation_p.R547C|LEPRE1_uc001chx.3_Missense_Mutation_p.R547C NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 547 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCCATGATGCGCCGCACCTTC 0.582 NaN 0 0 0 0.038147 0 8 28 HYI 81888 broad.mit.edu 37 1 43917930 43917930 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:43917930C>G uc001cjo.2 - 3 542 c.372G>C c.(370-372)GAG>GAC p.E124D KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Missense_Mutation_p.E51D|HYI_uc001cjn.2_Missense_Mutation_p.E124D|HYI_uc001cjp.2_Missense_Mutation_p.E51D NM_031207 NP_112484 Q5T013 HYI_HUMAN hydroxypyruvate isomerase homolog 124 hydroxypyruvate isomerase activity ovary(1) 1 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGGCCTCCATCTCAGCCTTGA 0.562 NaN 0 0 0 0.02938 0 7 27 ZNF644 84146 broad.mit.edu 37 1 91406112 91406112 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:91406112G>C uc001dnw.2 - 3 941 c.799C>G c.(799-801)CAA>GAA p.Q267E ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.Q267E NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ATAAGAAATTGAATGAACTCT 0.348 NaN 0 0 0 0.034045 0 30 122 SPAG17 200162 broad.mit.edu 37 1 118628687 118628687 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:118628687C>G uc001ehk.2 - 13 1688 c.1620G>C c.(1618-1620)AAG>AAC p.K540N NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 540 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GATCAAAATTCTTTTGGTCCT 0.423 NaN 0 0 0 0.034045 0 27 60 HIST2H2BF 440689 broad.mit.edu 37 1 149783666 149783666 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:149783666G>C uc001esr.2 - 1 263 c.213C>G c.(211-213)TTC>TTG p.F71L HIST2H2BF_uc010pbj.1_Missense_Mutation_p.F71L|HIST2H2BF_uc010pbk.1_Missense_Mutation_p.F71L NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf isoform a 71 nucleosome assembly nucleosome|nucleus DNA binding 0 Breast(34;0.0124)|all_hematologic(923;0.127) CGATGCGCTCGAAGATGTCGT 0.627 NaN 0 0 0 0.048971 0 41 262 FLG 2312 broad.mit.edu 37 1 152276103 152276103 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:152276103C>A uc001ezu.1 - 3 11295 c.11259G>T c.(11257-11259)GAG>GAT p.E3753D NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3753 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGACCCTCTTGGGACG 0.617 NaN Ichthyosis 1 0 6.42063e-57 0.048971 7.49792e-57 121 722 ATP8B2 57198 broad.mit.edu 37 1 154321468 154321468 + Silent SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:154321468G>T uc001fex.2 + 28 3546 c.3546G>T c.(3544-3546)CTG>CTT p.L1182L NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 1168 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACATGCGGCTGAGCTCTCTCG 0.647 NaN 1 0 2.98393e-07 0.076483 3.14669e-07 24 101 OR10T2 128360 broad.mit.edu 37 1 158368889 158368889 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:158368889C>A uc010pih.1 - 1 368 c.368G>T c.(367-369)CGC>CTC p.R123L NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) TGCTACATAGCGATCATATCC 0.473 NaN 1 0 1.88708e-17 0.037714 2.1461e-17 28 445 RCSD1 92241 broad.mit.edu 37 1 167666699 167666699 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:167666699G>A uc001gem.2 + 6 1025 c.838G>A c.(838-840)GAG>AAG p.E280K RCSD1_uc010pli.1_Missense_Mutation_p.E250K NM_052862 NP_443094 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 280 RCSD. ovary(2)|central_nervous_system(2)|skin(1) 5 all_hematologic(923;0.215) GGCCCAAGAGGAGGTCCCGGA 0.612 NaN 0 0 0 0.069234 0 10 69 RALGPS2 55103 broad.mit.edu 37 1 178753646 178753646 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:178753646G>C uc001glz.2 + 3 489 c.151G>C c.(151-153)GAA>CAA p.E51Q RALGPS2_uc001gly.1_Missense_Mutation_p.E51Q|RALGPS2_uc010pnb.1_Missense_Mutation_p.E51Q NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 51 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding 0 GGTTACACCAGAAGAATATGC 0.393 NaN 0 0 0 0.0333 0 17 77 RNASEL 6041 broad.mit.edu 37 1 182555244 182555244 + Missense_Mutation SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:182555244T>C uc001gpj.1 - 1 865 c.698A>G c.(697-699)AAT>AGT p.N233S RNASEL_uc009wxz.1_Missense_Mutation_p.N233S|RNASEL_uc001gpk.2_Missense_Mutation_p.N233S|RNASEL_uc009wya.1_Missense_Mutation_p.N233S NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 233 2-5A binding (P-loop) 1.|ANK 6. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TCCCCTCACATTGACATCAGC 0.517 NaN Hereditary_Prostate_Cancer 0 0 0 0.059317 0 36 136 NCF2 4688 broad.mit.edu 37 1 183532680 183532680 + Missense_Mutation SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:183532680A>T uc001gqj.3 - 12 1342 c.1067T>A c.(1066-1068)GTG>GAG p.V356E NCF2_uc010pod.1_Missense_Mutation_p.V311E|NCF2_uc010poe.1_Missense_Mutation_p.V275E|NCF2_uc001gqk.3_Missense_Mutation_p.V356E NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 356 OPR. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 CTTGTAGTGCACCTTGAGTGT 0.547 NaN 0 0 0 0.045515 0 45 384 HMCN1 83872 broad.mit.edu 37 1 186092199 186092199 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:186092199G>A uc001grq.1 + 81 12575 c.12346G>A c.(12346-12348)GGG>AGG p.G4116R NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4116 Ig-like C2-type 40. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GCATAAAGATGGGCGTGCAAT 0.512 NaN 0 0 0 0.059317 0 27 166 KCNH1 3756 broad.mit.edu 37 1 211276926 211276926 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:211276926C>G uc001hib.2 - 3 392 c.222G>C c.(220-222)CTG>CTC p.L74L KCNH1_uc001hic.2_Silent_p.L74L NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 74 Cytoplasmic (Potential).|PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTTTATCAGTCAGCTCCCCAT 0.279 NaN 0 0 0 0.0333 0 17 72 CUBN 8029 broad.mit.edu 37 10 17142151 17142151 + Missense_Mutation SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr10:17142151A>G uc001ioo.2 - 14 1670 c.1618T>C c.(1618-1620)TCT>CCT p.S540P NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 540 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAAGCAGAAGAGGAATCTCCA 0.408 NaN 0 0 0 0.028581 0 17 104 SVIL 6840 broad.mit.edu 37 10 29777621 29777621 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr10:29777621G>A uc001iut.1 - 23 5010 c.4257C>T c.(4255-4257)AGC>AGT p.S1419S SVIL_uc010qdw.1_Silent_p.S333S|SVIL_uc001iuu.1_Silent_p.S993S|SVIL_uc009xlc.2_Silent_p.S211S NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1419 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) GGCTGACGTTGCTGAAGTTTT 0.507 NaN 0 0 0 0.080935 0 10 35 TACC2 10579 broad.mit.edu 37 10 123843281 123843281 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr10:123843281C>T uc001lfv.2 + 4 1626 c.1266C>T c.(1264-1266)CTC>CTT p.L422L TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.L422L|TACC2_uc010qtv.1_Silent_p.L422L NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 422 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTCAAGCCTCGCTTCATTCC 0.557 NaN 0 0 0 0.048971 0 42 109 SLC25A22 79751 broad.mit.edu 37 11 792032 792032 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:792032C>T uc001lri.2 - 10 1197 c.855G>A c.(853-855)CTG>CTA p.L285L CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Silent_p.L285L|SLC25A22_uc001lrj.2_Silent_p.L285L NM_024698 NP_078974 Q9H936 GHC1_HUMAN mitochondrial glutamate carrier 1 285 Solcar 3. integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity 0 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) AGGCGCCCTTCAGGAAGGCCG 0.697 NaN 0 0 0 0.02938 0 5 13 TRPM5 29850 broad.mit.edu 37 11 2439011 2439011 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:2439011C>G uc001lwm.3 - 7 964 c.955G>C c.(955-957)GAG>CAG p.E319Q TRPM5_uc010qxl.1_Missense_Mutation_p.E319Q|TRPM5_uc009ydn.2_Missense_Mutation_p.E321Q NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 319 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCCTCCTGCTCGAAGTCATAC 0.662 NaN 0 0 0 0.02938 0 5 18 DCHS1 8642 broad.mit.edu 37 11 6662141 6662141 + Missense_Mutation SNP C C T rs143767864 byFrequency TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:6662141C>T uc001mem.1 - 2 1114 c.704G>A c.(703-705)CGG>CAG p.R235Q NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 235 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGA 0.587 NaN 0 0 0 0.048971 0 45 110 OR4C6 219432 broad.mit.edu 37 11 55433539 55433539 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:55433539C>T uc001nht.3 + 3 1162 c.897C>T c.(895-897)CTC>CTT p.L299L OR4C6_uc010rik.1_Silent_p.L299L NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGAAGAAACTCTGGATGAAAT 0.423 NaN 0 0 0 0.037714 0 29 55 OR5B21 219968 broad.mit.edu 37 11 58275356 58275356 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:58275356C>T uc010rki.1 - 1 223 c.223G>A c.(223-225)GTA>ATA p.V75I NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTGGGGGCTACAGCTGATGAG 0.512 NaN 0 0 0 0.024245 0 15 71 AHNAK 79026 broad.mit.edu 37 11 62288867 62288867 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:62288867G>A uc001ntl.2 - 5 13322 c.13022C>T c.(13021-13023)CCT>CTT p.P4341L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4341 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GTCAGCCTTAGGAAGGGTAAC 0.502 NaN 0 0 0 0.069234 0 10 388 AHNAK 79026 broad.mit.edu 37 11 62289475 62289475 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:62289475C>G uc001ntl.2 - 5 12714 c.12414G>C c.(12412-12414)CTG>CTC p.L4138L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4138 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTGGACCTTTCAGATTCAGGT 0.517 NaN 0 0 0 0.045515 0 45 329 SAPS3 55291 broad.mit.edu 37 11 68331848 68331848 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:68331848C>A uc001onw.2 + 9 1190 c.923C>A c.(922-924)GCC>GAC p.A308D SAPS3_uc001onv.2_Missense_Mutation_p.A308D|SAPS3_uc001ony.3_Missense_Mutation_p.A308D|SAPS3_uc001onx.2_Missense_Mutation_p.A308D|SAPS3_uc009ysh.2_Missense_Mutation_p.A308D|SAPS3_uc001onu.2_Missense_Mutation_p.A308D|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_Missense_Mutation_p.A15D NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 308 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) GTTCTAGAAGCCATCAGAGGA 0.458 NaN 1 0 1.08611e-07 0.080935 1.15233e-07 9 240 PPFIA1 8500 broad.mit.edu 37 11 70172733 70172733 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:70172733G>C uc001opo.2 + 7 937 c.739G>C c.(739-741)GAA>CAA p.E247Q PPFIA1_uc001opn.1_Missense_Mutation_p.E247Q|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 247 cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AAGCCACGAGGAAGACCTTGC 0.398 NaN 0 0 0 0.048971 0 291 384 DSCAML1 57453 broad.mit.edu 37 11 117321323 117321323 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:117321323G>A uc001prh.1 - 20 3832 c.3830C>T c.(3829-3831)CCC>CTC p.P1277L NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1217 Extracellular (Potential).|Fibronectin type-III 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACCCCGTTGGGCTTGGTAGG 0.582 NaN 0 0 0 0.024245 0 16 114 DYRK4 8798 broad.mit.edu 37 12 4708904 4708904 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:4708904C>G uc001qmx.2 + 8 891 c.731C>G c.(730-732)GCC>GGC p.A244G DYRK4_uc009zeh.1_Missense_Mutation_p.A359G|DYRK4_uc001qmy.1_Missense_Mutation_p.A244G NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 244 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) AAGGGCCAAGCCTCTGTTAAA 0.383 NaN 0 0 0 0.038395 0 18 80 ANO6 196527 broad.mit.edu 37 12 45810576 45810576 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:45810576C>T uc001roo.2 + 17 2441 c.2106C>T c.(2104-2106)GAC>GAT p.D702D ANO6_uc010sld.1_Silent_p.D702D|ANO6_uc010sle.1_Silent_p.D702D|ANO6_uc010slf.1_Silent_p.D723D|ANO6_uc010slg.1_Silent_p.D684D NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 702 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 TAAGAGTGGACGCATGGAAAC 0.483 NaN 0 0 0 0.020292 0 14 61 SLC38A2 54407 broad.mit.edu 37 12 46764360 46764360 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:46764360C>G uc001rpg.2 - 4 689 c.249G>C c.(247-249)GCG>GCC p.A83A SLC38A2_uc001rph.2_Intron NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 83 Regulates protein turnover upon amino acid deprivation (By similarity).|Helical; (Potential). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) TGCCCACAATCGCATTGCTCA 0.393 NaN 0 0 0 0.099896 0 24 105 SLC38A2 54407 broad.mit.edu 37 12 46765071 46765071 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:46765071C>G uc001rpg.2 - 2 446 c.6G>C c.(4-6)AAG>AAC p.K2N SLC38A2_uc001rph.2_5'UTR NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 2 Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) TTTCGGCCTTCTTCATGCTAA 0.577 NaN 0 0 0 0.048971 0 47 136 WIF1 11197 broad.mit.edu 37 12 65448985 65448985 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:65448985C>T uc001ssk.2 - 9 1076 c.931G>A c.(931-933)GAG>AAG p.E311K NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 311 EGF-like 5. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CAGCCAGGCTCGCAGACAGCT 0.413 NaN T HMGA2 pleomorphic salivary gland adenoma 0 0 0 0.024245 0 16 89 ANO4 121601 broad.mit.edu 37 12 101510560 101510560 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:101510560C>A uc010svm.1 + 25 3126 c.2554C>A c.(2554-2556)CCT>ACT p.P852T ANO4_uc001thw.2_Missense_Mutation_p.P817T|ANO4_uc001thx.2_Missense_Mutation_p.P852T|ANO4_uc001thy.2_Missense_Mutation_p.P372T NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 852 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 CTCGGGGACTCCTCTTAAGTA 0.542 NaN HNSCC(74;0.22) 1 0 3.62473e-10 0.062417 3.91741e-10 23 144 EIF2B1 1967 broad.mit.edu 37 12 124109399 124109399 + Nonsense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:124109399C>A uc001ufm.2 - 7 705 c.562G>T c.(562-564)GAG>TAG p.E188* EIF2B1_uc001ufn.2_Nonsense_Mutation_p.E186* NM_001414 NP_001405 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, 188 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) TCTGCTTTCTCCATGATGTAG 0.393 NaN 1 0 4.35082e-09 0.055883 4.6731e-09 17 74 KLHL1 57626 broad.mit.edu 37 13 70314531 70314531 + Silent SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr13:70314531A>G uc001vip.2 - 8 2591 c.1797T>C c.(1795-1797)AAT>AAC p.N599N KLHL1_uc010thm.1_Silent_p.N538N NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 599 Kelch 3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTTACTTGCCATTCAATGCTG 0.318 NaN 0 0 0 0.069234 0 10 27 DACH1 1602 broad.mit.edu 37 13 72049858 72049858 + Missense_Mutation SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr13:72049858T>A uc010thn.1 - 10 2417 c.1994A>T c.(1993-1995)GAT>GTT p.D665V DACH1_uc010tho.1_Missense_Mutation_p.D517V|DACH1_uc010thp.1_Missense_Mutation_p.D463V NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 717 Potential. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CCTGAGACTATCTGTTGAAGC 0.393 NaN 0 0 0 0.048971 0 106 80 DOCK9 23348 broad.mit.edu 37 13 99520199 99520199 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr13:99520199C>T uc001vnt.2 - 29 3215 c.3160G>A c.(3160-3162)GCT>ACT p.A1054T DOCK9_uc001vnw.2_Missense_Mutation_p.A1053T|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.A1054T|DOCK9_uc010tis.1_Missense_Mutation_p.A1053T|DOCK9_uc010tit.1_Missense_Mutation_p.A1054T|DOCK9_uc010tiq.1_Missense_Mutation_p.A18T|DOCK9_uc010afu.1_Missense_Mutation_p.A900T NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1054 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCTCCAGGAGCAAAACAGCTA 0.403 NaN 0 0 0 0.047766 0 6 21 MYH7 4625 broad.mit.edu 37 14 23896042 23896042 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr14:23896042C>T uc001wjx.2 - 18 2094 c.1988G>A c.(1987-1989)CGC>CAC p.R663H NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 663 Myosin head-like.|Actin-binding. R -> C (in CMH1).|R -> H (in CMH1).|R -> S (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATGGGTGGAGCGCAAGTTGGT 0.448 NaN 0 0 0 0.049695 0 18 46 DLST 1743 broad.mit.edu 37 14 75369021 75369021 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr14:75369021C>G uc001xqv.2 + 15 1413 c.1350C>G c.(1348-1350)CTC>CTG p.L450L DLST_uc001xqt.2_Silent_p.L366L|DLST_uc010tuw.1_Silent_p.L364L NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 450 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) GAGTCCTCCTCCTGGATCTTT 0.547 NaN 0 0 0 0.069234 0 9 43 FLRT2 23768 broad.mit.edu 37 14 86088847 86088847 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr14:86088847C>T uc001xvr.2 + 2 1756 c.989C>T c.(988-990)TCA>TTA p.S330L FLRT2_uc010atd.2_Missense_Mutation_p.S330L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 330 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) TATATCCCTTCATCTCTCAAC 0.478 NaN 0 0 0 0.048971 0 94 241 AHNAK2 113146 broad.mit.edu 37 14 105419822 105419822 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr14:105419822G>A uc010axc.1 - 7 2086 c.1966C>T c.(1966-1968)CGC>TGC p.R656C AHNAK2_uc001ypx.2_Missense_Mutation_p.R556C NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 656 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTTTTAAGCGTTTTTCATCG 0.403 NaN 0 0 0 0.048971 0 74 350 NUDT14 256281 broad.mit.edu 37 14 105644073 105644073 + Splice_Site SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr14:105644073C>T uc010tyn.1 - 2 196 c.82_splice c.e2-1 p.N28_splice NUDT14_uc001yqi.2_Splice_Site NM_177533 NP_803877 O95848 NUD14_HUMAN nudix-type motif 14 cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity skin(1) 1 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GGGCACCATTCTAGAAGGGGC 0.617 NaN HNSCC(42;0.11) 0 0 0 0.048971 0 50 159 RYR3 6263 broad.mit.edu 37 15 33872188 33872188 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr15:33872188G>C uc001zhi.2 + 13 1350 c.1280G>C c.(1279-1281)CGC>CCC p.R427P RYR3_uc010bar.2_Missense_Mutation_p.R427P NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 427 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAAACAATCGCACAGCTGCC 0.562 NaN 0 0 0 0.02938 0 7 28 SCAPER 49855 broad.mit.edu 37 15 77025725 77025725 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr15:77025725C>G uc002bby.2 - 15 1926 c.1867G>C c.(1867-1869)GTA>CTA p.V623L SCAPER_uc002bbx.2_Missense_Mutation_p.V377L|SCAPER_uc002bbz.1_Missense_Mutation_p.V494L|SCAPER_uc002bca.1_Missense_Mutation_p.V488L|SCAPER_uc002bcb.1_Missense_Mutation_p.V629L NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 622 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 ATTTCATTTACCTTTAAAAAA 0.284 NaN 0 0 0 0.02938 0 7 63 TELO2 9894 broad.mit.edu 37 16 1551483 1551483 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:1551483C>T uc002cly.2 + 10 1635 c.1344C>T c.(1342-1344)GAC>GAT p.D448D NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 448 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) CTGCGGGTGACGGCGCCTCGG 0.692 NaN 0 0 0 0.105934 0 11 5 POLR3E 55718 broad.mit.edu 37 16 22337220 22337220 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:22337220G>A uc002dkk.2 + 18 1643 c.1487G>A c.(1486-1488)CGG>CAG p.R496Q POLR3E_uc002dkj.1_Missense_Mutation_p.R496Q|POLR3E_uc002dkm.2_Missense_Mutation_p.R460Q|POLR3E_uc010vbr.1_Missense_Mutation_p.R496Q|POLR3E_uc002dkl.2_Missense_Mutation_p.R496Q|POLR3E_uc010vbs.1_Missense_Mutation_p.R460Q|POLR3E_uc010vbt.1_Missense_Mutation_p.R440Q NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 496 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) CCCGGTGTGCGGATCAAGGAG 0.542 NaN 0 0 0 0.047766 0 9 22 ZNF668 79759 broad.mit.edu 37 16 31075213 31075213 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:31075213G>A uc010caf.2 - 2 925 c.568C>T c.(568-570)CAC>TAC p.H190Y ZNF668_uc002eao.2_Missense_Mutation_p.H190Y|ZNF668_uc010cag.1_Missense_Mutation_p.H190Y NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 190 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 AGGCCAGCGTGAGTACGCCGG 0.657 NaN 0 0 0 0.047766 0 9 14 CNTNAP4 85445 broad.mit.edu 37 16 76569457 76569457 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:76569457G>A uc002feu.1 + 20 3156 c.2771G>A c.(2770-2772)AGA>AAA p.R924K CNTNAP4_uc002fev.1_Missense_Mutation_p.R788K|CNTNAP4_uc010chb.1_Missense_Mutation_p.R851K|CNTNAP4_uc002fex.1_Missense_Mutation_p.R927K NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 924 Extracellular (Potential).|Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 ACGGCCACCAGACAGAGAGGC 0.483 NaN 0 0 0 0.043863 0 18 77 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:7578190T>C uc002gim.2 - 6 853 c.659A>G c.(658-660)TAT>TGT p.Y220C TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 220 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGCGGCTCATAGGGCACCAC 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.050027 0 31 17 USP43 124739 broad.mit.edu 37 17 9631804 9631804 + Nonsense_Mutation SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:9631804G>T uc010cod.2 + 15 2869 c.2869G>T c.(2869-2871)GAG>TAG p.E957* USP43_uc002gma.3_Nonsense_Mutation_p.E646*|USP43_uc010vva.1_Nonsense_Mutation_p.E952*|USP43_uc010coe.2_Nonsense_Mutation_p.E754*|USP43_uc002gmc.3_Nonsense_Mutation_p.E469* NM_153210 NP_694942 Q70EL4 UBP43_HUMAN ubiquitin specific protease 43 957 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GAACTGGAAGGAGAGCTTCCA 0.552 NaN 1 0 9.05144e-12 0.105934 1.00315e-11 12 28 CPD 1362 broad.mit.edu 37 17 28778804 28778804 + Missense_Mutation SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:28778804T>A uc002hfb.1 + 14 3160 c.3145T>A c.(3145-3147)TGT>AGT p.C1049S CPD_uc010wbo.1_Missense_Mutation_p.C802S|CPD_uc010wbp.1_Intron NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 1049 Extracellular (Potential).|Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 AGAGAAAGACTGTACTTCAAA 0.388 NaN 0 0 0 0.105934 0 14 91 RARA 5914 broad.mit.edu 37 17 38510626 38510626 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:38510626C>T uc002huk.1 + 7 1335 c.880C>T c.(880-882)CGG>TGG p.R294W RARA_uc002hul.3_Missense_Mutation_p.R294W|RARA_uc010wfe.1_Missense_Mutation_p.R197W|RARA_uc002hun.1_Missense_Mutation_p.R289W NM_000964 NP_000955 P10276 RARA_HUMAN retinoic acid receptor, alpha isoform 1 294 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) GACCCTGAACCGGACCCAGAT 0.642 NaN T PML|ZNF145|TIF1|NUMA1|NPM1 APL 0 0 0 0.076483 0 21 93 HOXB4 3214 broad.mit.edu 37 17 46654110 46654110 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:46654110G>A uc002inp.2 - 2 792 c.730C>T c.(730-732)CCC>TCC p.P244S HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron NM_024015 NP_076920 P17483 HXB4_HUMAN homeobox B4 244 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCTCCATTGGGCCGGCCAGGG 0.697 NaN 0 0 0 0.080935 0 11 50 BCAS3 54828 broad.mit.edu 37 17 58952079 58952079 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:58952079C>T uc002iyv.3 + 9 750 c.641C>T c.(640-642)ACG>ATG p.T214M BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.T214M|BCAS3_uc002iyw.3_Missense_Mutation_p.T210M NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 214 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TGTACTTTCACGAAGAAATTC 0.328 NaN 0 0 0 0.080935 0 10 51 CD300LF 146722 broad.mit.edu 37 17 72691301 72691301 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:72691301G>A uc002jlg.2 - 7 910 c.807C>T c.(805-807)CTC>CTT p.L269L RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Silent_p.L272L|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_3'UTR|CD300LF_uc002jli.2_3'UTR|CD300LF_uc010wra.1_Silent_p.L284L NM_139018 NP_620587 Q8TDQ1 CLM1_HUMAN NK inhibitory receptor precursor 269 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity upper_aerodigestive_tract(1) 1 GGTGGCTACTGAGGTGGCCCA 0.602 NaN 0 0 0 0.030593 0 26 90 CDH2 1000 broad.mit.edu 37 18 25593677 25593677 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:25593677C>T uc002kwg.2 - 3 828 c.369G>A c.(367-369)CTG>CTA p.L123L CDH2_uc010xbn.1_Silent_p.L92L NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 123 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 AGGTTGGCTTCAGGCTCAATT 0.418 NaN 0 0 0 0.048971 0 51 205 TCF4 6925 broad.mit.edu 37 18 52946874 52946874 + Nonsense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:52946874G>C uc002lfz.2 - 9 1175 c.563C>G c.(562-564)TCA>TGA p.S188* TCF4_uc002lfw.3_Nonsense_Mutation_p.S28*|TCF4_uc010xdu.1_Nonsense_Mutation_p.S58*|TCF4_uc010xdv.1_Nonsense_Mutation_p.S58*|TCF4_uc002lfx.2_Nonsense_Mutation_p.S117*|TCF4_uc010xdw.1_Nonsense_Mutation_p.S58*|TCF4_uc002lfy.2_Nonsense_Mutation_p.S146*|TCF4_uc010xdx.1_Nonsense_Mutation_p.S164*|TCF4_uc010dph.1_Nonsense_Mutation_p.S188*|TCF4_uc010xdy.1_Nonsense_Mutation_p.S164*|TCF4_uc002lga.2_Nonsense_Mutation_p.S290*|TCF4_uc002lgb.1_Nonsense_Mutation_p.S28*|TCF4_uc010dpi.2_Nonsense_Mutation_p.S194*|TCF4_uc002lgc.3_Nonsense_Mutation_p.S109*|TCF4_uc002lfv.2_Translation_Start_Site NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 188 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding ovary(1)|lung(1) 2 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AGTGCTTGCTGATGGAGCATA 0.478 NaN 0 0 0 0.069234 0 9 60 SERPINB13 5275 broad.mit.edu 37 18 61255985 61255985 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:61255985C>G uc002ljc.2 + 2 252 c.84C>G c.(82-84)TTC>TTG p.F28L SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Missense_Mutation_p.F28L|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 28 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 GCAACATCTTCTTTTCCCCTG 0.532 NaN 0 0 0 0.043863 0 19 53 TMX3 54495 broad.mit.edu 37 18 66381117 66381117 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:66381117C>T uc002lkf.2 - 2 202 c.67G>A c.(67-69)GTC>ATC p.V23I CCDC102B_uc002lkk.2_5'Flank|TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.V23I|TMX3_uc002lkg.3_Missense_Mutation_p.V23I|CCDC102B_uc002lkh.2_5'Flank NM_019022 NP_061895 Q96JJ7 TMX3_HUMAN thioredoxin domain containing 10 precursor 23 cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity skin(1) 1 CCTTTACAGACGACCATATCA 0.294 NaN 0 0 0 0.009096 0 4 15 ZNF516 9658 broad.mit.edu 37 18 74153297 74153297 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:74153297C>T uc010dqx.1 - 2 1949 c.1714G>A c.(1714-1716)GGC>AGC p.G572S ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CAGGCGGAGCCAGGGCTGCTG 0.736 NaN 0 0 0 0.02938 0 6 15 ZNF555 148254 broad.mit.edu 37 19 2852822 2852822 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:2852822G>A uc002lwo.2 + 4 848 c.759G>A c.(757-759)GAG>GAA p.E253E ZNF555_uc002lwn.3_Silent_p.E252E NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) ACACCGGAGAGAAGCCATATA 0.413 NaN 0 0 0 0.09319 0 12 64 OR2Z1 284383 broad.mit.edu 37 19 8842207 8842207 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:8842207G>A uc010xkg.1 + 1 817 c.817G>A c.(817-819)GTG>ATG p.V273M NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 273 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 GCAGGATAACGTGGTTTCCCT 0.537 NaN 0 0 0 0.108266 0 27 160 CARM1 10498 broad.mit.edu 37 19 11032381 11032381 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:11032381C>A uc002mpz.2 + 16 1901 c.1775C>A c.(1774-1776)TCC>TAC p.S592Y CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.S352Y NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 592 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 CCCGCCATCTCCATGGCGTCG 0.652 NaN 1 0 5.66738e-07 0.086207 5.90493e-07 34 156 ZNF714 148206 broad.mit.edu 37 19 21281118 21281118 + Splice_Site SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:21281118G>A uc002npo.3 + 3 403 c.43_splice c.e3+1 p.A15_splice ZNF714_uc002npl.2_Splice_Site|ZNF714_uc010ecp.1_Splice_Site|ZNF714_uc002npn.2_Splice_Site NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCTTCTTGGGTGAGAATAAC 0.328 NaN 0 0 0 0.069288 0 22 65 ZNF99 7652 broad.mit.edu 37 19 22939544 22939544 + Missense_Mutation SNP A A C rs58378942 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:22939544A>C uc010xrh.1 - 7 2627 c.2627T>G c.(2626-2628)ATG>AGG p.M876R NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTTATGTTTCATAAGGGTTGA 0.343 NaN 0 0 0 0.004672 0 3 69 ARHGEF1 9138 broad.mit.edu 37 19 42410144 42410144 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:42410144G>A uc002orx.2 + 26 2567 c.2458G>A c.(2458-2460)GAG>AAG p.E820K ARHGEF1_uc002ory.2_Missense_Mutation_p.E787K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E658K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E835K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E802K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E574K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E479K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E264K NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 820 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) ACCAGGCCCCGAGGGCCAGCT 0.512 NaN 0 0 0 0.034045 0 26 125 ZNF285 26974 broad.mit.edu 37 19 44891096 44891096 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:44891096G>A uc002ozd.3 - 4 1398 c.1311C>T c.(1309-1311)TTC>TTT p.F437F ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.F444F NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 437 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 TACATTGGCTGAAGCCCTTTC 0.473 NaN 0 0 0 0.055883 0 21 109 ZNF813 126017 broad.mit.edu 37 19 53994369 53994369 + Nonsense_Mutation SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:53994369G>T uc002qbu.2 + 4 1011 c.883G>T c.(883-885)GGA>TGA p.G295* ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ACTTCATACTGGAGAGAAACC 0.398 NaN 1 0 1.01871e-10 0.049695 1.11482e-10 19 119 LILRA2 11027 broad.mit.edu 37 19 55085807 55085807 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:55085807C>T uc002qgg.3 + 3 199 c.110C>T c.(109-111)TCT>TTT p.S37F LILRA2_uc010ern.2_Missense_Mutation_p.S37F|LILRA2_uc002qgf.2_Missense_Mutation_p.S37F|LILRA2_uc010yfe.1_Missense_Mutation_p.S37F|LILRA2_uc010yff.1_Missense_Mutation_p.S25F|LILRA2_uc010ero.2_Missense_Mutation_p.S25F|LILRA2_uc010yfg.1_Missense_Mutation_p.S37F NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 37 Extracellular (Potential).|Ig-like C2-type 1. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GAGCCAGGCTCTGTGATCATC 0.542 NaN 0 0 0 0.048971 0 99 157 NLRP2 55655 broad.mit.edu 37 19 55493697 55493697 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:55493697C>T uc002qij.2 + 6 717 c.631C>T c.(631-633)CTG>TTG p.L211L NLRP2_uc010yfp.1_Silent_p.L188L|NLRP2_uc010esn.2_Silent_p.L187L|NLRP2_uc010eso.2_Silent_p.L208L|NLRP2_uc010esp.2_Silent_p.L189L NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 211 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CACGGTGGTGCTGTATGGTCC 0.517 NaN 0 0 0 0.048971 0 63 125 ZIM3 114026 broad.mit.edu 37 19 57647056 57647056 + Missense_Mutation SNP G G C rs150862431 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:57647056G>C uc002qnz.1 - 5 1035 c.649C>G c.(649-651)CAC>GAC p.H217D NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 217 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCTCTGCGTGAGTTTTCTGA 0.428 NaN 0 0 0 0.092188 0 40 209 MRPL35 51318 broad.mit.edu 37 2 86434448 86434448 + Missense_Mutation SNP A A C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:86434448A>C uc002srg.3 + 3 434 c.376A>C c.(376-378)AAG>CAG p.K126Q MRPL35_uc002srf.3_Missense_Mutation_p.K126Q NM_016622 NP_057706 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 isoform a 126 translation mitochondrial ribosome structural constituent of ribosome 0 GGTGAGGAGAAAGGTGAGTCT 0.294 NaN 0 0 0 0.069288 0 20 56 IMP4 92856 broad.mit.edu 37 2 131103630 131103630 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:131103630G>C uc002tra.1 + 7 651 c.634G>C c.(634-636)GAT>CAT p.D212H NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 212 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) CGTGCCCAAAGATGACAGCCA 0.592 NaN 0 0 0 0.038395 0 18 89 TMEM163 81615 broad.mit.edu 37 2 135308215 135308215 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:135308215G>A uc002ttx.2 - 4 450 c.384C>T c.(382-384)GAC>GAT p.D128D TMEM163_uc002tty.2_RNA NM_030923 NP_112185 Q8TC26 TM163_HUMAN transmembrane protein 163 128 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(221;0.154) ATGACAGGACGTCCAGGATGG 0.502 NaN 0 0 0 0.080935 0 11 76 NXPH2 11249 broad.mit.edu 37 2 139428760 139428761 + Missense_Mutation DNP GT GT AA TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:139428760_139428761GT>AA uc002tvi.2 - 2 526_527 c.526_527AC>TT c.(526-528)ACC>TTC p.T176F NM_007226 NP_009157 O95156 NXPH2_HUMAN neurexophilin 2 precursor 176 IV (linker domain). neuropeptide signaling pathway extracellular region ovary(3)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(221;0.101) GGTCTCCAAGGTAGACTGGGGG 0.47 NaN 0 0 0 0.004672 0 9 39 SCN3A 6328 broad.mit.edu 37 2 166003482 166003482 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:166003482C>G uc002ucx.2 - 12 1930 c.1438G>C c.(1438-1440)GAG>CAG p.E480Q SCN3A_uc002ucy.2_Missense_Mutation_p.E480Q|SCN3A_uc002ucz.2_Missense_Mutation_p.E480Q|SCN3A_uc002uda.1_Missense_Mutation_p.E349Q|SCN3A_uc002udb.1_Missense_Mutation_p.E349Q NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 480 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TCCAACAGCTCTCCTAACCCA 0.443 NaN 0 0 0 0.059317 0 33 85 TTN 7273 broad.mit.edu 37 2 179411904 179411904 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:179411904G>A uc010zfg.1 - 289 86868 c.86644C>T c.(86644-86646)CGT>TGT p.R28882C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22577C|TTN_uc010zfi.1_Missense_Mutation_p.R22510C|TTN_uc010zfj.1_Missense_Mutation_p.R22385C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29809 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTGTATTACGTTCTTTCTTC 0.423 NaN 0 0 0 0.048971 0 56 215 GTF3C3 9330 broad.mit.edu 37 2 197650253 197650253 + Nonsense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:197650253G>C uc002uts.2 - 7 1043 c.953C>G c.(952-954)TCA>TGA p.S318* GTF3C3_uc010zgu.1_Nonsense_Mutation_p.S318*|GTF3C3_uc002utu.2_Nonsense_Mutation_p.S318*|GTF3C3_uc002utt.3_5'UTR NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 318 TPR 5. transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 CTGGTGTTTTGAGAAAGCTTC 0.343 NaN 0 0 0 0.080935 0 11 48 C20orf96 140680 broad.mit.edu 37 20 256641 256641 + Silent SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:256641G>C uc002wde.1 - 10 1138 c.999C>G c.(997-999)GTC>GTG p.V333V C20orf96_uc002wdc.2_Silent_p.V280V|C20orf96_uc002wdd.2_Silent_p.V298V|C20orf96_uc010zpi.1_Silent_p.V280V|C20orf96_uc010zpj.1_3'UTR|C20orf96_uc010zpk.1_3'UTR NM_153269 NP_695001 Q9NUD7 CT096_HUMAN hypothetical protein LOC140680 333 0 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) CCTCAAATATGACCTCTCGGG 0.512 NaN 0 0 0 0.038395 0 18 80 SIRPB2 284759 broad.mit.edu 37 20 1459226 1459226 + Missense_Mutation SNP A A C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:1459226A>C uc002wfg.2 - 3 706 c.478T>G c.(478-480)TGG>GGG p.W160G SIRPB2_uc002wfh.3_Missense_Mutation_p.W62G|SIRPB2_uc010zpr.1_Missense_Mutation_p.W22G NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 isoform 1 160 Ig-like V-type 2.|Extracellular (Potential). integral to membrane 0 TGGATGATCCACAGGTCTGGT 0.443 NaN 0 0 0 0.069234 0 10 76 CRNKL1 51340 broad.mit.edu 37 20 20026049 20026049 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:20026049C>T uc002wrs.2 - 7 1219 c.1187G>A c.(1186-1188)CGG>CAG p.R396Q NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 396 HAT 6. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 ATACACTTTCCGTGCATGGGC 0.418 NaN 0 0 0 0.104719 0 44 190 TGM2 7052 broad.mit.edu 37 20 36758657 36758657 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:36758657C>T uc002xhr.2 - 13 2128 c.2028G>A c.(2026-2028)GTG>GTA p.V676V TGM2_uc002xhq.2_Silent_p.V277V|TGM2_uc010zvx.1_Silent_p.V595V|TGM2_uc010zvy.1_Silent_p.V616V NM_004613 NP_004604 P21980 TGM2_HUMAN transglutaminase 2 isoform a 676 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(1)|lung(1)|ovary(1) 3 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) GGAAGCCCTTCACAGCCTTCA 0.587 NaN 0 0 0 0.009096 0 4 31 CDH22 64405 broad.mit.edu 37 20 44856245 44856245 + Missense_Mutation SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:44856245A>T uc002xrm.2 - 3 973 c.572T>A c.(571-573)ATG>AAG p.M191K CDH22_uc010ghk.1_Missense_Mutation_p.M191K NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 191 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) ATCCGAGGCCATCACCTGCAT 0.682 NaN 0 0 0 0.043863 0 12 5 ZNF831 128611 broad.mit.edu 37 20 57767955 57767955 + Silent SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:57767955G>T uc002yan.2 + 1 1881 c.1881G>T c.(1879-1881)ACG>ACT p.T627T NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 627 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGGATGAGACGTTCAAAAGGA 0.592 NaN 1 0 2.68362e-12 0.09319 2.99327e-12 11 85 TIAM1 7074 broad.mit.edu 37 21 32575277 32575277 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr21:32575277C>T uc002yow.1 - 13 2912 c.2440G>A c.(2440-2442)GAA>AAA p.E814K TIAM1_uc011adk.1_Missense_Mutation_p.E814K|TIAM1_uc011adl.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 814 RBD. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 ATTTTGTTTTCTATTAGAAAT 0.378 NaN 0 0 0 0.030593 0 26 207 ITSN1 6453 broad.mit.edu 37 21 35255954 35255954 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr21:35255954G>A uc002yta.1 + 36 4923 c.4655G>A c.(4654-4656)CGA>CAA p.R1552Q DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.R1547Q|ITSN1_uc002ytj.2_Missense_Mutation_p.R1491Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc010gmn.1_RNA|ITSN1_uc002ytk.1_Intron NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 1552 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 TATACTCTCCGAGCAGAAAGC 0.537 NaN 0 0 0 0.037714 0 29 199 MCM3AP 8888 broad.mit.edu 37 21 47674341 47674341 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr21:47674341C>T uc002zir.1 - 19 4137 c.4101G>A c.(4099-4101)CCG>CCA p.P1367P MCM3AP_uc002zip.1_Silent_p.P108P|MCM3AP_uc002ziq.1_Silent_p.P294P NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1367 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CCTCTACATCCGGCAACACCA 0.617 NaN 0 0 0 0.047766 0 9 153 UPB1 51733 broad.mit.edu 37 22 24909450 24909450 + Missense_Mutation SNP C C A rs138608016 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr22:24909450C>A uc003aaf.2 + 5 739 c.618C>A c.(616-618)AAC>AAA p.N206K UPB1_uc003aae.2_Missense_Mutation_p.N138K|UPB1_uc011ajt.1_Missense_Mutation_p.N206K NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN beta-ureidopropionase 206 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding p.N206N(1) ovary(2) 2 Colorectal(2;0.0339) GTGATTTCAACGAGGTGAGCC 0.512 NaN 1 0 5.21738e-30 0.048971 6.01208e-30 76 49 AP1B1 162 broad.mit.edu 37 22 29730359 29730359 + Nonsense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr22:29730359G>C uc003afj.2 - 17 2388 c.2204C>G c.(2203-2205)TCA>TGA p.S735* AP1B1_uc003afi.2_Nonsense_Mutation_p.S728*|AP1B1_uc003afk.2_Nonsense_Mutation_p.S728*|AP1B1_uc003afl.2_Intron|AP1B1_uc003afh.2_5'Flank|AP1B1_uc011ako.1_Nonsense_Mutation_p.S288*|SNORD125_uc010gvn.1_5'Flank NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 735 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 GAAGGTGCCTGAGATCTCCAG 0.617 NaN 0 0 0 0.09319 0 13 37 MAPKAPK3 7867 broad.mit.edu 37 3 50684226 50684226 + Silent SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr3:50684226C>A uc003day.1 + 11 1481 c.885C>A c.(883-885)ATC>ATA p.I295I MAPKAPK3_uc003daz.1_Silent_p.I295I|MAPKAPK3_uc003dba.1_Silent_p.I295I|MAPKAPK3_uc010hlr.1_Silent_p.I295I NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 295 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GGCTGACCATCACTCAGTTCA 0.612 NaN 1 0 1.5739e-10 0.028581 1.71161e-10 14 70 MAPKAPK3 7867 broad.mit.edu 37 3 50685381 50685381 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr3:50685381C>T uc003day.1 + 13 1649 c.1053C>T c.(1051-1053)ATC>ATT p.I351I MAPKAPK3_uc003daz.1_Silent_p.I351I|MAPKAPK3_uc003dba.1_Silent_p.I351I|MAPKAPK3_uc010hlr.1_Silent_p.I351I NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 351 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGGTGAAGATCAAGGACCTGA 0.552 NaN 0 0 0 0.09836 0 42 147 SLMAP 7871 broad.mit.edu 37 3 57827025 57827025 + Splice_Site SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr3:57827025G>A uc003dje.1 + 3 552 c.347_splice c.e3-1 p.V116_splice SLMAP_uc003djc.1_Splice_Site_p.V116_splice|SLMAP_uc003djd.1_Splice_Site_p.V116_splice|SLMAP_uc003djf.1_Splice_Site_p.V116_splice NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GTTTCAACCAGTTACCCATGG 0.318 NaN 0 0 0 0.048971 0 51 20 CBLB 868 broad.mit.edu 37 3 105378062 105378062 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr3:105378062C>T uc003dwc.2 - 19 3023 c.2701G>A c.(2701-2703)GCA>ACA p.A901T CBLB_uc003dwa.2_Missense_Mutation_p.A116T|CBLB_uc011bhi.1_Missense_Mutation_p.A879T NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 901 Pro-rich.|Interaction with SH3KBP1. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 CTGGCTGGTGCCTGTGAACCA 0.443 NaN Mis S AML 0 0 0 0.014758 0 4 74 DNAJB11 51726 broad.mit.edu 37 3 186299223 186299223 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr3:186299223G>C uc003fqi.2 + 5 740 c.520G>C c.(520-522)GAG>CAG p.E174Q NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 174 protein folding endoplasmic reticulum lumen heat shock protein binding ovary(1)|lung(1) 2 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TTGTCGGCAAGAGATGCGGAC 0.517 NaN 0 0 0 0.069456 0 31 139 FAM193A 8603 broad.mit.edu 37 4 2692602 2692602 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:2692602C>T uc010icl.2 + 13 2186 c.1835C>T c.(1834-1836)ACG>ATG p.T612M FAM193A_uc010ick.2_Missense_Mutation_p.T812M|FAM193A_uc003gfd.2_Missense_Mutation_p.T612M|FAM193A_uc011bvm.1_Missense_Mutation_p.T634M|FAM193A_uc011bvn.1_Missense_Mutation_p.T612M|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.T466M NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 612 ovary(3) 3 GTCATGGCCACGTCATCAGCC 0.448 NaN 0 0 0 0.0333 0 15 92 MUC7 4589 broad.mit.edu 37 4 71347033 71347033 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:71347033C>T uc011cat.1 + 4 860 c.572C>T c.(571-573)GCC>GTC p.A191V MUC7_uc011cau.1_Missense_Mutation_p.A191V|MUC7_uc003hfj.2_Missense_Mutation_p.A191V|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 191 2.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) ACCACAGCTGCCCCACCCACA 0.587 NaN 0 0 0 0.047766 0 6 165 AFM 173 broad.mit.edu 37 4 74363404 74363404 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:74363404C>G uc003hhb.2 + 10 1258 c.1227C>G c.(1225-1227)CTC>CTG p.L409L NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 409 Albumin 3. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGAAAAGCCTCAAGATGGTAC 0.338 NaN 0 0 0 0.024245 0 13 29 SEC31A 22872 broad.mit.edu 37 4 83776177 83776177 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:83776177G>A uc003hnf.2 - 17 2051 c.1887C>T c.(1885-1887)ATC>ATT p.I629I SEC31A_uc003hne.2_Silent_p.I362I|SEC31A_uc011ccl.1_Silent_p.I590I|SEC31A_uc003hnl.2_Silent_p.I590I|SEC31A_uc003hng.2_Silent_p.I629I|SEC31A_uc003hnh.2_Silent_p.I629I|SEC31A_uc003hni.2_Silent_p.I629I|SEC31A_uc003hnj.2_Silent_p.I590I|SEC31A_uc011ccm.1_Silent_p.I624I|SEC31A_uc011ccn.1_Silent_p.I629I|SEC31A_uc003hnk.2_Silent_p.I590I|SEC31A_uc003hnm.2_Silent_p.I629I|SEC31A_uc003hnn.1_Silent_p.I629I NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 629 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) CCACTGCAGTGATGAGCTTGA 0.348 NaN 0 0 0 0.02938 0 7 34 MTTP 4547 broad.mit.edu 37 4 100532321 100532321 + Silent SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:100532321G>C uc003hvc.3 + 14 2047 c.1791G>C c.(1789-1791)CTG>CTC p.L597L MTTP_uc011cej.1_Silent_p.L624L NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 597 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GTCGAGTTCTGAAGGAAATGG 0.393 NaN 0 0 0 0.0918 0 22 86 CENPE 1062 broad.mit.edu 37 4 104080302 104080302 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:104080302G>C uc003hxb.1 - 22 2556 c.2466C>G c.(2464-2466)TTC>TTG p.F822L CENPE_uc003hxc.1_Missense_Mutation_p.F797L NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 822 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GAAGGGTTTTGAAATTTTGGA 0.348 NaN 0 0 0 0.069234 0 11 71 ANK2 287 broad.mit.edu 37 4 114290876 114290876 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:114290876G>A uc003ibe.3 + 43 11625 c.11525G>A c.(11524-11526)CGG>CAG p.R3842Q ANK2_uc003ibd.3_Missense_Mutation_p.R1748Q|ANK2_uc003ibf.3_Missense_Mutation_p.R1757Q|ANK2_uc011cgc.1_Missense_Mutation_p.R933Q|ANK2_uc003ibg.3_Missense_Mutation_p.R741Q|ANK2_uc003ibh.3_Missense_Mutation_p.R431Q|ANK2_uc011cgd.1_Missense_Mutation_p.R1144Q NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3809 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGCTCTCCGCGGAAAACCAGC 0.532 NaN 0 0 0 0.080935 0 11 68 FAT4 79633 broad.mit.edu 37 4 126336800 126336800 + Missense_Mutation SNP A A C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:126336800A>C uc003ifj.3 + 5 6682 c.6682A>C c.(6682-6684)ACT>CCT p.T2228P FAT4_uc011cgp.1_Missense_Mutation_p.T526P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2228 Cadherin 21.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTACCATTTAACTGTTCAGGC 0.438 NaN 0 0 0 0.099896 0 25 121 FASTKD3 79072 broad.mit.edu 37 5 7867809 7867809 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr5:7867809C>T uc003jeb.2 - 2 525 c.388G>A c.(388-390)GCA>ACA p.A130T FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 130 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 GCTCCTGCTGCCATAGTGTCA 0.418 NaN 0 0 0 0.020292 0 14 61 ELOVL7 79993 broad.mit.edu 37 5 60083198 60083198 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr5:60083198C>T uc003jsi.3 - 3 227 c.27G>A c.(25-27)AGG>AGA p.R9R ELOVL7_uc011cqo.1_5'UTR|ELOVL7_uc010iwk.2_Silent_p.R9R|ELOVL7_uc003jsj.3_5'UTR NM_024930 NP_079206 A1L3X0 ELOV7_HUMAN elongation of very long chain fatty acids-like 9 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) GATGCACAGTCCTCGATGTAA 0.338 NaN 0 0 0 0.105934 0 11 59 GPR98 84059 broad.mit.edu 37 5 89985850 89985850 + Silent SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr5:89985850A>T uc003kju.2 + 30 6759 c.6663A>T c.(6661-6663)GCA>GCT p.A2221A GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2221 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAACAGAGGCAGTCATTATTA 0.378 NaN 0 0 0 0.021553 0 4 12 TRIM36 55521 broad.mit.edu 37 5 114469698 114469698 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr5:114469698C>G uc003kqs.2 - 8 1902 c.1393G>C c.(1393-1395)GAG>CAG p.E465Q TRIM36_uc011cwc.1_Missense_Mutation_p.E453Q|TRIM36_uc003kqt.2_Missense_Mutation_p.E310Q NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 465 Fibronectin type-III. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) ACTTCTATCTCATTCCATGAC 0.363 NaN 0 0 0 0.020292 0 14 62 PCDHA1 56147 broad.mit.edu 37 5 140167231 140167231 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr5:140167231G>A uc003lhb.2 + 1 1356 c.1356G>A c.(1354-1356)GCG>GCA p.A452A PCDHA1_uc003lha.2_Silent_p.A452A|PCDHA1_uc003lgz.2_Silent_p.A452A NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 452 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGACAACGCGCCTGCGTTCG 0.682 NaN 0 0 0 0.104719 0 40 147 HLA-A 3105 broad.mit.edu 37 6 29911314 29911314 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr6:29911314C>T uc003nol.2 + 3 613 c.613C>T c.(613-615)CGC>TGC p.R205C HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Missense_Mutation_p.R84C|HLA-A_uc003nok.2_Missense_Mutation_p.R84C|HLA-A_uc003non.2_Missense_Mutation_p.R205C|HLA-A_uc003noo.2_Missense_Mutation_p.R205C|HLA-A_uc010jrr.2_Missense_Mutation_p.R205C|HLA-A_uc003nom.2_Missense_Mutation_p.R84C|HLA-A_uc010klp.2_Missense_Mutation_p.R177C|HLA-A_uc011dmc.1_Missense_Mutation_p.R84C|HLA-A_uc011dmd.1_Missense_Mutation_p.R84C NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 205 Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 GACGCTGCAGCGCACGGGTAC 0.652 NaN Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 0 0 0 0.047766 0 8 80 FKBP5 2289 broad.mit.edu 37 6 35554818 35554818 + Missense_Mutation SNP T T C rs61753297 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr6:35554818T>C uc011dte.1 - 8 1036 c.833A>G c.(832-834)TAC>TGC p.Y278C FKBP5_uc003okx.2_Missense_Mutation_p.Y278C|FKBP5_uc011dtf.1_Missense_Mutation_p.Y99C|FKBP5_uc003oky.2_Missense_Mutation_p.Y278C|FKBP5_uc003okz.2_Missense_Mutation_p.T248A NM_001145776 NP_001139248 Q13451 FKBP5_HUMAN FK506 binding protein 5 isoform 1 278 TPR 1. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 CACCTTGAAGTATACGGTTCC 0.408 NaN 0 0 0 0.048971 0 95 91 POPDC3 64208 broad.mit.edu 37 6 105609536 105609536 + Silent SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr6:105609536T>C uc003prb.2 - 2 651 c.249A>G c.(247-249)GTA>GTG p.V83V uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 83 Helical; (Potential). integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) TGACAAACAGTACAAAATTCC 0.433 NaN 0 0 0 0.048971 0 90 100 T 6862 broad.mit.edu 37 6 166571980 166571980 + Silent SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr6:166571980C>A uc003quu.1 - 9 1624 c.1131G>T c.(1129-1131)CGG>CGT p.R377R T_uc003qut.1_Silent_p.R378R|T_uc003quv.1_Silent_p.R319R NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 377 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CGGGGGAGCCCCGGAAGAACT 0.706 NaN Chordoma_Familial_Clustering_of 1 0 3.32936e-07 0.038395 3.48981e-07 16 51 FERD3L 222894 broad.mit.edu 37 7 19184975 19184975 + Missense_Mutation SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:19184975T>C uc003suo.1 - 1 70 c.11A>G c.(10-12)TAT>TGT p.Y4C uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 4 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 GCTCTCCGGATAGGCCGCCAT 0.642 NaN 0 0 0 0.09319 0 11 60 PDE1C 5137 broad.mit.edu 37 7 31862705 31862705 + Missense_Mutation SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:31862705T>C uc003tcm.1 - 14 2033 c.1564A>G c.(1564-1566)AGG>GGG p.R522G PDE1C_uc003tcn.1_Missense_Mutation_p.R522G|PDE1C_uc003tco.1_Missense_Mutation_p.R582G|PDE1C_uc003tcr.2_Missense_Mutation_p.R522G|PDE1C_uc003tcs.2_Missense_Mutation_p.R522G NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 522 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) ACCTTGGCCCTCCATCTCTCC 0.458 NaN 0 0 0 0.074837 0 35 170 SFRP4 6424 broad.mit.edu 37 7 37955842 37955842 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:37955842C>A uc003tfo.3 - 1 684 c.298G>T c.(298-300)GTG>TTG p.V100L NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 100 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 CGTTGGCACACCGACTTGCAC 0.627 NaN 1 0 5.03518e-11 0.043863 5.54508e-11 17 60 C7orf36 57002 broad.mit.edu 37 7 39612174 39612174 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:39612174G>C uc003thc.3 + 3 559 c.550G>C c.(550-552)GAA>CAA p.E184Q NM_020192 NP_064577 Q9NRH1 CG036_HUMAN hypothetical protein LOC57002 184 0 TTCATATGTAGAATGTTGTAG 0.393 NaN 0 0 0 0.049695 0 20 92 GRM8 2918 broad.mit.edu 37 7 126544099 126544099 + Silent SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:126544099T>A uc003vlr.2 - 4 1256 c.945A>T c.(943-945)ATA>ATT p.I315I GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.I315I|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Silent_p.I36I NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 315 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGACAGGTGCTATTTTGGATC 0.403 NaN HNSCC(24;0.065) 0 0 0 0.059317 0 35 121 LRGUK 136332 broad.mit.edu 37 7 133812300 133812300 + Nonsense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:133812300C>A uc003vrm.1 + 1 196 c.180C>A c.(178-180)TAC>TAA p.Y60* NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 60 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 CCTCCTCCTACCTGCTCCAGC 0.597 NaN 1 0 1.17739e-12 0.108266 1.32172e-12 26 154 ARHGEF5 7984 broad.mit.edu 37 7 144062382 144062382 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:144062382G>A uc003wel.2 + 2 2738 c.2620G>A c.(2620-2622)GGT>AGT p.G874S ARHGEF5_uc003wek.2_Missense_Mutation_p.G874S|ARHGEF5_uc003wem.2_5'Flank NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 874 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) GAACTCAGGGGGTCATGCCAA 0.612 NaN 0 0 0 0.048971 0 74 140 MCPH1 79648 broad.mit.edu 37 8 6357451 6357451 + Splice_Site SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr8:6357451G>A uc003wqi.2 + 12 2282 c.2214_splice c.e12+1 p.P738_splice ANGPT2_uc003wqj.3_3'UTR|ANGPT2_uc003wqk.3_3'UTR|ANGPT2_uc010lri.2_3'UTR NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) TGCAGCTCCCGTAAGTCAGAT 0.428 NaN 0 0 0 0.020292 0 15 50 KCNU1 157855 broad.mit.edu 37 8 36793051 36793051 + Silent SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr8:36793051A>T uc010lvw.2 + 27 3150 c.3063A>T c.(3061-3063)CCA>CCT p.P1021P NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1021 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCACCCGGCCAGCCAATGAGT 0.458 NaN 0 0 0 0.048971 0 71 103 POP1 10940 broad.mit.edu 37 8 99168597 99168597 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr8:99168597G>A uc003yij.3 + 15 2477 c.2377G>A c.(2377-2379)GAA>AAA p.E793K POP1_uc011lgv.1_Missense_Mutation_p.E793K|POP1_uc003yik.2_Missense_Mutation_p.E793K NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 793 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GGAGGCCAGTGAAAACCATGT 0.512 NaN 0 0 0 0.069456 0 35 216 ALDOB 229 broad.mit.edu 37 9 104192127 104192127 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr9:104192127G>A uc004bbk.2 - 3 316 c.234C>T c.(232-234)ATC>ATT p.I78I NM_000035 NP_000026 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 78 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) CGTGGAAAAGGATCACACCCC 0.517 NaN 0 0 0 0.048971 0 151 95 SLC7A3 84889 broad.mit.edu 37 X 70149567 70149567 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:70149567G>C uc004dyn.2 - 2 439 c.281C>G c.(280-282)TCT>TGT p.S94C SLC7A3_uc004dyo.2_Missense_Mutation_p.S94C NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 94 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TGCCGAACCAGAACGGGGAAC 0.542 NaN 0 0 0 0.080935 0 10 16 PHKA1 5255 broad.mit.edu 37 X 71839145 71839145 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:71839145C>T uc004eax.3 - 20 2449 c.2148G>A c.(2146-2148)ATG>ATA p.M716I PHKA1_uc004eay.3_Missense_Mutation_p.M716I|PHKA1_uc011mqi.1_Missense_Mutation_p.M657I NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 716 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) TAGGAAGATACATGTGAACAT 0.388 NaN 0 0 0 0.069234 0 10 4 MAGEE2 139599 broad.mit.edu 37 X 75003748 75003748 + Missense_Mutation SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:75003748A>G uc004ecj.1 - 1 1324 c.1139T>C c.(1138-1140)CTT>CCT p.L380P NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 380 MAGE 2. ovary(1)|skin(1) 2 TTGCTGGACAAGGAGGTAGAT 0.443 NaN 0 0 0 0.074837 0 38 82 PAK3 5063 broad.mit.edu 37 X 110463610 110463610 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:110463610C>A uc004epa.2 + 15 1642 c.1615C>A c.(1615-1617)CCT>ACT p.P539T PAK3_uc010npt.1_Missense_Mutation_p.P524T|PAK3_uc010npu.1_Missense_Mutation_p.P524T|PAK3_uc004eoz.2_Missense_Mutation_p.P524T|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.P560T|PAK3_uc010npw.1_Missense_Mutation_p.P545T NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 539 multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 ATTAGCCAAGCCTCTCTCCAG 0.418 NaN TSP Lung(19;0.15) 1 0 0.000274275 0.047766 0.00028239 9 16 STAG2 10735 broad.mit.edu 37 X 123200039 123200039 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:123200039C>T uc004etz.3 + 21 2450 c.2111C>T c.(2110-2112)TCA>TTA p.S704L STAG2_uc004eua.2_Missense_Mutation_p.S704L|STAG2_uc004eub.2_Missense_Mutation_p.S704L|STAG2_uc004euc.2_Missense_Mutation_p.S704L|STAG2_uc004eud.2_Missense_Mutation_p.S704L|STAG2_uc004eue.2_Missense_Mutation_p.S704L NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 704 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CATGACCTTTCAAAGTGGGAT 0.289 NaN 0 0 0 0.049695 0 19 51 F8 2157 broad.mit.edu 37 X 154124398 154124398 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:154124398C>G uc004fmt.2 - 22 6554 c.6383G>C c.(6382-6384)GGG>GCG p.G2128A F8_uc010nvi.1_3'UTR NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 2128 F5/8 type C 1. 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 ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 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) CCACTTCTTCCCATCAAGACT 0.413 NaN 0 0 0 0.048971 0 62 92 EDC4 23644 broad.mit.edu 37 16 67911712 67911712 + Frame_Shift_Del DEL C C - TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:67911712delC uc002eur.2 + 7 1024 c.858delC c.(856-858)ATCfs p.I286fs EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Frame_Shift_Del_p.I218fs|EDC4_uc010ces.1_Frame_Shift_Del_p.I129fs|EDC4_uc002eus.2_Frame_Shift_Del_p.I16fs NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 286 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) TTAGCCAGATCAAGCAGGGCT 0.582 NaN NaN NaN NaN NaN NaN 55 86 --- --- PHLPP1 23239 broad.mit.edu 37 18 60562283 60562283 + Frame_Shift_Del DEL T T - TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:60562283delT uc002lis.2 + 6 748 c.570delT c.(568-570)CATfs p.H190fs NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 702 LRR 3. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 CCAATAATCATTTAGGGGACT 0.438 NaN NaN NaN NaN NaN NaN 18 28 --- ---