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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PTCHD2 57540 broad.mit.edu 37 1 11591064 11591064 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:11591064C>T uc001ash.3 + 16 3341 c.3203C>T c.(3202-3204)CCG>CTG p.P1068L NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1068 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CTGGTGAAGCCGGGTGGGGCC 0.622 NA 41 75 0 0 0.007835 0 0 EYA3 2140 broad.mit.edu 37 1 28316211 28316211 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:28316211G>C uc001bpi.1 - 15 1580 c.1415C>G c.(1414-1416)TCC>TGC p.S472C EYA3_uc010ofs.1_Missense_Mutation_p.S419C|EYA3_uc010oft.1_Missense_Mutation_p.S426C|EYA3_uc001bpj.2_Missense_Mutation_p.S426C|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA NM_001990 NP_001981 Q99504 EYA3_HUMAN eyes absent 3 472 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity ovary(2)|skin(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) TCCATACCTGGACTGGATGAG 0.423 NA 43 65 0 0 0.00361 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370403 35370403 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:35370403G>T uc001byc.2 - 1 582 c.582C>A c.(580-582)GAC>GAA p.D194E NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 194 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) GCCCATTATAGTCCCGCTTCC 0.597 NA 18 22 2.94398e-08 4.16858e-08 0.007413 1 0 RLF 6018 broad.mit.edu 37 1 40705790 40705790 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:40705790A>T uc001cfc.3 + 8 5447 c.5416A>T c.(5416-5418)AAT>TAT p.N1806Y RLF_uc001cfd.3_Missense_Mutation_p.N1497Y NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1806 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ACAGTCCAGTAATGATTTAAC 0.353 NA 6 35 0 0 0.001168 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45501863 45501863 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:45501863C>A uc001cnd.2 - 9 2231 c.2003G>T c.(2002-2004)GGC>GTC p.G668V NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 668 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) TTGACCCAGGCCCATCAGTGC 0.567 NA 24 36 7.87624e-14 1.23456e-13 0.00278 1 0 EPS8L3 79574 broad.mit.edu 37 1 110293370 110293370 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:110293370C>T uc001dyr.1 - 18 1827 c.1682G>A c.(1681-1683)CGC>CAC p.R561H EPS8L3_uc001dys.1_Missense_Mutation_p.R531H|EPS8L3_uc001dyq.1_Missense_Mutation_p.R562H|EPS8L3_uc009wfm.1_Missense_Mutation_p.R498H NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 561 cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) AGGTCTTATGCGAAGTAGCTG 0.607 NA 16 19 0 0 0.00499 0 0 SLC16A1 6566 broad.mit.edu 37 1 113460446 113460446 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:113460446G>A uc001ecx.2 - 4 1414 c.582C>T c.(580-582)CTC>CTT p.L194L SLC16A1_uc001ecy.2_Silent_p.L194L|SLC16A1_uc001ecz.2_Silent_p.L194L NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 194 Cytoplasmic (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) TTGGTCGCATGAGGGCTCCAG 0.488 NA 29 27 0 0 0.008361 0 0 ZNF697 90874 broad.mit.edu 37 1 120165529 120165529 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:120165529C>T uc001ehy.1 - 3 1551 c.1437G>A c.(1435-1437)ACG>ACA p.T479T NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN zinc finger protein 697 479 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GCTGCGTGAGCGTGGAGAAGT 0.652 NA 10 4 0 0 0.006214 0 0 PHGDH 26227 broad.mit.edu 37 1 120266064 120266064 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:120266064G>T uc001ehz.2 + 3 583 c.356G>T c.(355-357)AGG>ATG p.R119M PHGDH_uc009whl.2_Translation_Start_Site|PHGDH_uc009whm.2_Translation_Start_Site|PHGDH_uc001eia.2_Missense_Mutation_p.R119M|PHGDH_uc009whn.2_Missense_Mutation_p.R119M|PHGDH_uc001eib.2_Missense_Mutation_p.R85M NM_006623 NP_006614 O43175 SERA_HUMAN phosphoglycerate dehydrogenase 119 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity ovary(1) 1 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) TGCCTGGCCAGGTAAGTCCCT 0.473 NA 22 39 8.04996e-18 1.29801e-17 0.001882 1 0 LCE3D 84648 broad.mit.edu 37 1 152552345 152552345 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:152552345G>T uc001fab.2 - 2 125 c.68C>A c.(67-69)CCA>CAA p.P23Q NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 23 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) TGGGCTCTTTGGGGGACACTT 0.612 NA 8 145 0.00307968 0.00348272 0.00308 1 0 LCE2B 26239 broad.mit.edu 37 1 152659578 152659578 + Nonsense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:152659578C>T uc001fai.2 + 2 313 c.259C>T c.(259-261)CAG>TAG p.Q87* NM_014357 NP_055172 O14633 LCE2B_HUMAN late cornified envelope 2B 87 Cys-rich. keratinization ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCGCCGGCACCAGAGCCCCGA 0.667 NA 45 116 0 0 0.00874 0 0 LELP1 149018 broad.mit.edu 37 1 153177365 153177365 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:153177365G>A uc001fbl.2 + 2 292 c.182G>A c.(181-183)TGC>TAC p.C61Y NM_001010857 NP_001010857 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 61 Cys/Pro-rich. ovary(1) 1 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCCTGCCCTGCCCCTCGCAG 0.592 NA 25 46 0 0 0.003954 0 0 BCAN 63827 broad.mit.edu 37 1 156622210 156622210 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:156622210G>A uc001fpp.2 + 8 1804 c.1468G>A c.(1468-1470)GGC>AGC p.G490S BCAN_uc001fpo.2_Missense_Mutation_p.G490S NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 490 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGCAGCCCGGGCCCTGAGGC 0.463 NA 3 16 0 0 0.004672 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156912554 156912554 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:156912554A>G uc001fqo.2 - 32 4174 c.3134T>C c.(3133-3135)ATC>ACC p.I1045T ARHGEF11_uc010phu.1_Missense_Mutation_p.I461T|ARHGEF11_uc001fqn.2_Missense_Mutation_p.I1085T NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1045 PH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGTGCAGATGATGAAGAAGGC 0.537 NA 3 98 0 0 0.000248 0 0 CD1E 913 broad.mit.edu 37 1 158326366 158326366 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:158326366G>A uc001fse.2 + 5 1222 c.983G>A c.(982-984)CGG>CAG p.R328Q CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.R238Q|CD1E_uc001fsj.2_Missense_Mutation_p.R183Q|CD1E_uc001fsc.2_Missense_Mutation_p.R139Q|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.R84Q|CD1E_uc001fsf.2_Missense_Mutation_p.R328Q|CD1E_uc001fry.2_Missense_Mutation_p.R273Q|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Missense_Mutation_p.R139Q|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Missense_Mutation_p.R229Q|CD1E_uc001frz.2_Missense_Mutation_p.R238Q|CD1E_uc009wsw.2_Intron NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 328 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) GTTGACTCACGGTTAAAAAAA 0.303 NA 6 22 0 0 0.001168 0 0 CD1E 913 broad.mit.edu 37 1 158326382 158326382 + Splice_Site SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:158326382G>C uc001fse.2 + 5 1237 c.998_splice c.e5+1 p.S333_splice CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_Splice_Site|CD1E_uc001fsk.2_Splice_Site_p.S243_splice|CD1E_uc001fsj.2_Splice_Site_p.S188_splice|CD1E_uc001fsc.2_Splice_Site_p.S144_splice|CD1E_uc010pig.1_Splice_Site|CD1E_uc001fsa.2_Splice_Site_p.S89_splice|CD1E_uc001fsf.2_Splice_Site_p.S333_splice|CD1E_uc001fry.2_Splice_Site_p.S278_splice|CD1E_uc001fsg.2_Splice_Site|CD1E_uc001fsh.2_Splice_Site_p.S144_splice|CD1E_uc001fsi.2_Splice_Site|CD1E_uc009wsv.2_Splice_Site_p.S234_splice|CD1E_uc001frz.2_Splice_Site_p.S243_splice|CD1E_uc009wsw.2_Intron NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) AAAAACAGAGGTGAGCTTTTT 0.274 NA 5 20 0 0 0.000602 0 0 SPTA1 6708 broad.mit.edu 37 1 158590209 158590209 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:158590209G>C uc001fst.1 - 44 6367 c.6168C>G c.(6166-6168)AAC>AAG p.N2056K NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2056 Spectrin 20. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CACACCAGTTGTTCAAAGCTG 0.458 NA 12 30 0 0 0.00245 0 0 LMX1A 4009 broad.mit.edu 37 1 165182882 165182882 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:165182882C>A uc001gcy.1 - 4 886 c.665G>T c.(664-666)AGG>ATG p.R222M LMX1A_uc001gcz.1_Missense_Mutation_p.R222M|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 222 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) CTATACCTTCCTGCAGGGCTT 0.562 NA 37 104 1.90571e-15 3.02936e-15 0.004289 1 0 C1orf129 80133 broad.mit.edu 37 1 170955788 170955788 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:170955788C>A uc001ghg.2 + 10 946 c.816C>A c.(814-816)ATC>ATA p.I272I C1orf129_uc009wvy.2_Silent_p.I79I|C1orf129_uc010plz.1_Silent_p.I272I NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 272 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATGATAAAATCGCATCTGATG 0.453 NA 22 55 4.35082e-09 6.3473e-09 0.001523 1 0 TNR 7143 broad.mit.edu 37 1 175365760 175365760 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:175365760G>T uc001gkp.1 - 3 1241 c.1160C>A c.(1159-1161)CCA>CAA p.P387Q TNR_uc009wwu.1_Missense_Mutation_p.P387Q|TNR_uc010pmz.1_Silent_p.A352A NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 387 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GGTGAGACCTGGCTCCAGCTC 0.592 NA 21 48 1.00905e-13 1.5743e-13 0.008871 1 0 RALGPS2 55103 broad.mit.edu 37 1 178861370 178861370 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:178861370G>T uc001glz.2 + 15 1591 c.1253G>T c.(1252-1254)AGA>ATA p.R418I RALGPS2_uc010pnb.1_Intron NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 418 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding 0 AACAGGAACAGATTATACCAT 0.393 NA 11 28 3.07112e-06 4.07467e-06 0.000978 1 0 FAM5C 339479 broad.mit.edu 37 1 190067160 190067160 + Silent SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:190067160T>C uc001gse.1 - 8 2521 c.2289A>G c.(2287-2289)AAA>AAG p.K763K FAM5C_uc010pot.1_Silent_p.K661K NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 763 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) AACTACATAATTTGGTCGTGT 0.378 NA 7 89 0 0 0.004482 0 0 KDM5B 10765 broad.mit.edu 37 1 202702680 202702680 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:202702680C>T uc001gyf.2 - 23 3874 c.3758G>A c.(3757-3759)CGA>CAA p.R1253Q KDM5B_uc009xag.2_Missense_Mutation_p.R1289Q|KDM5B_uc001gyg.1_Missense_Mutation_p.R1095Q NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1253 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 AATCATATATCGAAGTGCATC 0.507 NA 7 85 0 0 0.001984 0 0 TMEM81 388730 broad.mit.edu 37 1 205053413 205053413 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:205053413G>C uc001hbt.2 - 1 176 c.36C>G c.(34-36)AGC>AGG p.S12R NM_203376 NP_976310 Q6P7N7 TMM81_HUMAN transmembrane protein 81 precursor 12 integral to membrane 0 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) CCAACCCCAGGCTCCCAAGGA 0.507 NA 18 70 0 0 0.008871 0 0 USH2A 7399 broad.mit.edu 37 1 216390757 216390757 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:216390757A>T uc001hku.1 - 15 3516 c.3129T>A c.(3127-3129)GAT>GAA p.D1043E USH2A_uc001hkv.2_Missense_Mutation_p.D1043E NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1043 Laminin EGF-like 10.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATTGTTGACATCCAAGTGGC 0.343 NA HNSCC(13;0.011) 9 22 0 0 0.006214 0 0 DISP1 84976 broad.mit.edu 37 1 223178804 223178804 + Silent SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:223178804T>C uc001hnu.1 + 8 4212 c.4065T>C c.(4063-4065)TTT>TTC p.F1355F NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1355 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) CTAGGAATTTTTTCCTCCACC 0.512 NA 24 48 0 0 0.00278 0 0 TARBP1 6894 broad.mit.edu 37 1 234606997 234606997 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:234606997C>T uc001hwd.2 - 3 1036 c.1036G>A c.(1036-1038)GTT>ATT p.V346I NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 346 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GGCTTTATAACATGTATCTAA 0.279 NA 7 10 0 0 0.004482 0 0 ACTN2 88 broad.mit.edu 37 1 236902780 236902780 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:236902780T>A uc001hyf.2 + 10 1259 c.1055T>A c.(1054-1056)CTG>CAG p.L352Q ACTN2_uc001hyg.2_Missense_Mutation_p.L144Q|ACTN2_uc009xgi.1_Missense_Mutation_p.L352Q|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.L40Q NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 352 Spectrin 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CAGACCAAGCTGCGGATCAGC 0.607 NA 13 44 0 0 0.001368 0 0 RYR2 6262 broad.mit.edu 37 1 237947539 237947539 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:237947539T>C uc001hyl.1 + 90 12647 c.12527T>C c.(12526-12528)GTG>GCG p.V4176A RYR2_uc010pya.1_Missense_Mutation_p.V591A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4176 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATATTTGACGTGGTCAACGAA 0.502 NA 27 73 0 0 0.00632 0 0 NLRP3 114548 broad.mit.edu 37 1 247593036 247593036 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:247593036G>C uc001icr.2 + 6 2444 c.2306G>C c.(2305-2307)GGC>GCC p.G769A NLRP3_uc001ics.2_Missense_Mutation_p.G769A|NLRP3_uc001icu.2_Missense_Mutation_p.G769A|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.G767A NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 769 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CAGCATCCTGGCTGTAACATT 0.498 NA 4 71 0 0 0.000248 0 0 OR6F1 343169 broad.mit.edu 37 1 247875407 247875407 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:247875407G>T uc001idj.1 - 1 651 c.651C>A c.(649-651)TCC>TCA p.S217S NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGTACACATAGGAGACAAAGG 0.542 NA 35 63 4.31634e-10 6.40795e-10 0.002445 1 0 TAF3 83860 broad.mit.edu 37 10 8007139 8007139 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:8007139A>G uc010qbd.1 + 3 1666 c.1666A>G c.(1666-1668)AAG>GAG p.K556E NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 556 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 aagtaaggagaaggataaagt 0.189 NA 12 18 0 0 0.000978 0 0 SLC39A12 221074 broad.mit.edu 37 10 18266839 18266839 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:18266839C>A uc001ipo.2 + 5 1033 c.760C>A c.(760-762)CAA>AAA p.Q254K SLC39A12_uc001ipn.2_Missense_Mutation_p.Q254K|SLC39A12_uc001ipp.2_Missense_Mutation_p.Q254K|SLC39A12_uc010qck.1_Missense_Mutation_p.Q120K NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 254 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 AGAACTAGACCAACTCCTCAA 0.338 NA 25 100 1.5548e-18 2.51907e-18 0.005443 1 0 MAP3K8 1326 broad.mit.edu 37 10 30728114 30728114 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:30728114G>T uc001ivi.1 + 3 943 c.247G>T c.(247-249)GAT>TAT p.D83Y MAP3K8_uc009xlf.1_Missense_Mutation_p.D83Y|MAP3K8_uc001ivj.1_Missense_Mutation_p.D83Y NM_005204 NP_005195 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 83 cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(3)|central_nervous_system(1) 4 Prostate(175;0.151) AACTGTGGAGGATTTGCTTGC 0.408 NA 19 46 5.26018e-13 8.16903e-13 0.001882 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38651210 38651210 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:38651210G>A uc010qex.1 + 3 357 c.282G>A c.(280-282)GGG>GGA p.G94G HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Silent_p.G92G SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TAAATGCTGGGATCATGCCTA 0.363 NA 14 33 0 0 0.00245 0 0 RBP3 5949 broad.mit.edu 37 10 48388863 48388863 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:48388863G>A uc001jez.2 - 1 2129 c.2015C>T c.(2014-2016)GCC>GTC p.A672V NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 672 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) TGTGCGGTAGGCGCCCTGGGC 0.662 NA 14 25 0 0 0.001855 0 0 FRMPD2 143162 broad.mit.edu 37 10 49452849 49452849 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:49452849C>A uc001jgi.2 - 4 460 c.353G>T c.(352-354)GGG>GTG p.G118V FRMPD2_uc001jgh.2_Intron|FRMPD2_uc001jgj.2_Intron NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 118 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) AACATGAAACCCTGCTGACCA 0.423 NA 13 19 1.61879e-10 2.42459e-10 0.001368 1 0 GRID1 2894 broad.mit.edu 37 10 87406989 87406989 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:87406989G>C uc001kdl.1 - 13 2264 c.2163C>G c.(2161-2163)TGC>TGG p.C721W GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.C292W|uc001kdm.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 721 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) GACTGGACACGCAGTTGTCAG 0.617 NA Multiple Myeloma(13;0.14) 62 214 0 0 0.00361 0 0 PLCE1 51196 broad.mit.edu 37 10 95931199 95931199 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:95931199C>T uc001kjk.2 + 4 2389 c.1755C>T c.(1753-1755)ACC>ACT p.T585T PLCE1_uc010qnx.1_Silent_p.T585T|PLCE1_uc001kjm.2_Silent_p.T277T NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 585 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) CGATTCTTACCACTCAGAATG 0.483 NA 24 58 0 0 0.00333 0 0 C10orf28 27291 broad.mit.edu 37 10 99968469 99968469 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:99968469G>T uc001kow.3 + 4 893 c.598G>T c.(598-600)GAC>TAC p.D200Y C10orf28_uc001kox.3_Missense_Mutation_p.D200Y|C10orf28_uc001koy.3_Missense_Mutation_p.D200Y|C10orf28_uc009xvx.2_Missense_Mutation_p.D200Y|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN growth inhibition and differentiation related 200 nucleotide binding large_intestine(1)|skin(1) 2 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) AGCATTTGAAGACAAAGATTT 0.388 NA 10 33 1.76689e-08 2.5338e-08 0.006214 1 0 C10orf76 79591 broad.mit.edu 37 10 103773783 103773783 + Splice_Site SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:103773783T>A uc009xwy.1 - 9 772 c.670_splice c.e9-1 p.S224_splice NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) ATTCACAGACTGTTAAATAAG 0.393 NA 5 65 0 0 0.000602 0 0 GBF1 8729 broad.mit.edu 37 10 104103885 104103885 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:104103885A>T uc001kux.1 + 4 481 c.241A>T c.(241-243)ATC>TTC p.I81F GBF1_uc001kuw.2_Missense_Mutation_p.I81F|GBF1_uc001kuy.1_Missense_Mutation_p.I81F|GBF1_uc001kuz.1_Missense_Mutation_p.I81F NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 81 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CACTGGCCCTATCACTGGACT 0.458 NA 46 60 0 0 0.002522 0 0 CALHM2 51063 broad.mit.edu 37 10 105209508 105209508 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:105209508G>T uc001kwz.2 - 2 577 c.191C>A c.(190-192)CCC>CAC p.P64H CALHM2_uc001kxa.2_Missense_Mutation_p.P64H|CALHM2_uc001kxc.2_Missense_Mutation_p.P64H|CALHM2_uc001kxb.2_Missense_Mutation_p.P64H|CALHM2_uc001kxd.1_Missense_Mutation_p.P64H NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 64 Helical; (Potential). integral to membrane skin(1) 1 CACCAGGGCGGGCACGCCGAT 0.667 NA 6 75 3.59834e-05 4.47468e-05 0.001168 1 0 C10orf81 79949 broad.mit.edu 37 10 115540429 115540429 + Silent SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:115540429C>G uc009xyc.1 + 13 1681 c.990C>G c.(988-990)CCC>CCG p.P330P C10orf81_uc001lar.1_3'UTR|C10orf81_uc001las.1_Silent_p.P330P|C10orf81_uc001lau.1_Silent_p.P246P|C10orf81_uc001lav.2_5'Flank Q5SXH7 CJ081_HUMAN RecName: Full=PH domain-containing protein C10orf81; 426 central_nervous_system(1) 1 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) GTATGTGTCCCTCAAAATGCC 0.453 NA 15 20 0 0 0.003163 0 0 MKI67 4288 broad.mit.edu 37 10 129913665 129913665 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:129913665C>A uc001lke.2 - 7 1202 c.1007G>T c.(1006-1008)AGC>ATC p.S336I MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 336 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GAGAGGAAAGCTGGCGCCCAC 0.483 NA 49 61 6.08268e-21 9.95079e-21 0.00361 1 0 OR52A4 390053 broad.mit.edu 37 11 5142144 5142144 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:5142144G>T uc001lzz.1 - 1 665 c.665C>A c.(664-666)TCC>TAC p.S222Y NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CTGAATATAGGAGAGGGTGAT 0.373 NA 8 16 0.00307968 0.00348272 0.00308 1 0 DCHS1 8642 broad.mit.edu 37 11 6648581 6648581 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:6648581C>A uc001mem.1 - 14 6099 c.5689G>T c.(5689-5691)GGT>TGT p.G1897C NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1897 Cadherin 18.|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) CCTGCTGTACCGGCGCCCAGG 0.607 NA 5 10 0.000602214 0.000709602 0.000602 1 0 INSC 387755 broad.mit.edu 37 11 15212246 15212246 + Splice_Site SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:15212246G>T uc001mly.2 + 6 767 c.721_splice c.e6-1 p.A241_splice INSC_uc001mlz.2_Splice_Site_p.A194_splice|INSC_uc001mma.2_Splice_Site_p.A194_splice|INSC_uc010rcs.1_Splice_Site_p.A229_splice|INSC_uc001mmb.2_Splice_Site_p.A194_splice|INSC_uc001mmc.2_Splice_Site_p.A194_splice NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 TCTCTTCTTAGGCACTGGTGA 0.512 NA 37 87 4.62619e-21 7.605e-21 0.004289 1 0 Unknown 0 broad.mit.edu 37 11 30953443 30953443 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:30953443T>A uc009yjk.1 - 10 1185 c.1116A>T c.(1114-1116)AAA>AAT p.K372N uc009yjl.1_3'UTR RecName: Full=Doublecortin domain-containing protein 5; NA TACAGATGGGTTTCTTCATGG 0.413 NA 13 26 0 0 0.001368 0 0 OR4P4 81300 broad.mit.edu 37 11 55406128 55406128 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:55406128C>G uc010rij.1 + 1 295 c.295C>G c.(295-297)CTC>GTC p.L99V NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 99 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TATGATACAACTCTTTACCAC 0.443 NA 16 76 0 0 0.003163 0 0 OR9G9 504191 broad.mit.edu 37 11 56468651 56468651 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:56468651C>A uc010rjn.1 + 1 788 c.788C>A c.(787-789)TCT>TAT p.S263Y NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTCCCCAGATCTAGCTATTCT 0.433 NA 15 178 1.3612e-06 1.82759e-06 0.003163 1 0 MEN1 4221 broad.mit.edu 37 11 64575538 64575538 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:64575538G>T uc001obj.2 - 3 567 c.494C>A c.(493-495)GCT>GAT p.A165D MEN1_uc001obk.2_Missense_Mutation_p.A165D|MEN1_uc001obl.2_Missense_Mutation_p.A160D|MEN1_uc001obm.2_Missense_Mutation_p.A160D|MEN1_uc001obn.2_Missense_Mutation_p.A165D|MEN1_uc001obo.2_Missense_Mutation_p.A165D|MEN1_uc001obp.2_Missense_Mutation_p.A160D|MEN1_uc001obq.2_Missense_Mutation_p.A165D|MEN1_uc001obr.2_Missense_Mutation_p.A165D NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 165 A -> T (in MEN1).|A -> P (in MEN1; strong decrease in JUND- binding). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 CCCAACCACAGCAAAGGCCAC 0.602 Esophageal Squamous(1;83 158 15500 18603 18803 29295) NA D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 8 9 1.12685e-05 1.44391e-05 0.004482 1 0 CD248 57124 broad.mit.edu 37 11 66082510 66082510 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:66082510A>G uc001ohm.1 - 1 2006 c.1989T>C c.(1987-1989)GCT>GCC p.A663A NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 663 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) CTGCTGTGGGAGCTGGTGAGG 0.647 NA 10 76 0 0 0.006214 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259973 71259973 + Silent SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:71259973A>T uc001oqs.1 + 1 508 c.270A>T c.(268-270)TCA>TCT p.S90S NM_005553 NP_005544 P26371 KRA59_HUMAN keratin associated protein 5-9 90 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament 0 GTTGCTCTTCAGGCTGTGGGT 0.632 NA 140 191 0 0 0.00361 0 0 LRRC32 2615 broad.mit.edu 37 11 76372307 76372307 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:76372307C>T uc001oxq.3 - 3 573 c.330G>A c.(328-330)GCG>GCA p.A110A LRRC32_uc001oxr.3_Silent_p.A110A|LRRC32_uc010rsf.1_Silent_p.A110A NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 110 LRR 3.|Extracellular (Potential). integral to plasma membrane 0 CAGTGGCCATCGCCAGCCGGT 0.672 NA 23 99 0 0 0.001882 0 0 KCTD14 65987 broad.mit.edu 37 11 77727957 77727957 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:77727957C>A uc001oyw.3 - 2 475 c.450G>T c.(448-450)GAG>GAT p.E150D NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN potassium channel tetramerisation domain 150 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) GCACCATGAGCTCCAGGTTCT 0.552 NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748) NA 5 124 1.23904e-05 1.57568e-05 0.000602 1 0 GRM5 2915 broad.mit.edu 37 11 88337921 88337921 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:88337921C>A uc001pcq.2 - 4 1559 c.1359G>T c.(1357-1359)ACG>ACT p.T453T GRM5_uc009yvm.2_Silent_p.T453T NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 453 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CGAATAGGATCGTATCTCCAG 0.443 NA 26 21 7.92952e-12 1.21466e-11 0.003954 1 0 GRM5 2915 broad.mit.edu 37 11 88338052 88338052 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:88338052C>A uc001pcq.2 - 4 1428 c.1228G>T c.(1228-1230)GGG>TGG p.G410W GRM5_uc009yvm.2_Missense_Mutation_p.G410W NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 410 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TTGTGGAGCCCATAGGCCATC 0.463 NA 38 30 2.75727e-19 4.48889e-19 0.004878 1 0 FAT3 120114 broad.mit.edu 37 11 92534237 92534237 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:92534237A>G uc001pdj.3 + 9 8075 c.8058A>G c.(8056-8058)CCA>CCG p.P2686P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2686 Cadherin 24.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGGGCATCCCAGTAAAGCACT 0.458 NA TCGA Ovarian(4;0.039) 3 31 0 0 0.004672 0 0 DDI1 414301 broad.mit.edu 37 11 103907872 103907872 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:103907872C>G uc001phr.2 + 1 565 c.322C>G c.(322-324)CGT>GGT p.R108G PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 108 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GTCCAGCTCCCGTCCACAGCA 0.667 NA 47 45 0 0 0.00361 0 0 SNX19 399979 broad.mit.edu 37 11 130784585 130784585 + Missense_Mutation SNP T T A rs138524806 byFrequency TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:130784585T>A uc001qgk.3 - 1 1798 c.1250A>T c.(1249-1251)GAG>GTG p.E417V SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E417V|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 417 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) TTCAGATGCCTCACCATCTTT 0.552 NA 9 17 0 0 0.000978 0 0 IGSF9B 22997 broad.mit.edu 37 11 133807324 133807324 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:133807324C>G uc001qgx.3 - 5 857 c.626G>C c.(625-627)CGA>CCA p.R209P IGSF9B_uc001qgy.1_Missense_Mutation_p.R51P NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 209 Ig-like 2.|Extracellular (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTGTACGCTCGGCAGGTGTA 0.617 NA 10 8 0 0 0.001368 0 0 NTF3 4908 broad.mit.edu 37 12 5604005 5604005 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:5604005G>T uc001qnl.3 + 1 708 c.625G>T c.(625-627)GAT>TAT p.D209Y NTF3_uc001qnk.3_Missense_Mutation_p.D222Y NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 209 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 CAGGGGTATTGATGATAAACA 0.488 GBM(194;1104 2182 8339 9578 18493) NA 4 54 0.000602214 0.000709602 0.000602 1 0 NCAPD2 9918 broad.mit.edu 37 12 6624087 6624087 + Splice_Site SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:6624087G>A uc001qoo.2 + 9 1033 c.987_splice c.e9+1 p.E329_splice NCAPD2_uc009zen.1_Splice_Site_p.E201_splice|NCAPD2_uc010sfd.1_Splice_Site_p.E284_splice NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 GGATGGAGAAGTAGGTGGTCC 0.458 NA 29 49 0 0 0.002445 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 8 5.4927e-09 7.97862e-09 0.004482 1 0 TMEM117 84216 broad.mit.edu 37 12 44781917 44781917 + Missense_Mutation SNP C C T rs141562455 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:44781917C>T uc001rod.2 + 8 1073 c.1007C>T c.(1006-1008)CCG>CTG p.P336L TMEM117_uc001roe.2_Missense_Mutation_p.P232L|TMEM117_uc009zkc.2_3'UTR NM_032256 NP_115632 Q9H0C3 TM117_HUMAN transmembrane protein 117 336 endoplasmic reticulum|integral to membrane 0 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TATATCGGCCCGGGGCAGAAG 0.378 NA 4 32 0 0 0.000248 0 0 WNT10B 7480 broad.mit.edu 37 12 49359933 49359933 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:49359933C>A uc001rss.2 - 5 1461 c.1115G>T c.(1114-1116)TGC>TTC p.C372F WNT10B_uc001rst.2_3'UTR NM_003394 NP_003385 O00744 WN10B_HUMAN wingless-type MMTV integration site family, 372 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity skin(4)|lung(3) 7 CAGCACATAGCAGCACCAGTG 0.592 NA 18 53 9.7654e-05 0.000118807 0.007413 1 0 MLL2 8085 broad.mit.edu 37 12 49444044 49444044 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:49444044G>A uc001rta.3 - 11 3327 c.3327C>T c.(3325-3327)GCC>GCT p.A1109A NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1109 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCAGGGCTGGGGCAGGGCTGG 0.622 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 3 19 0 0 0.000248 0 0 MMP19 4327 broad.mit.edu 37 12 56236185 56236185 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:56236185A>G uc001sib.2 - 2 246 c.125T>C c.(124-126)CTA>CCA p.L42P MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Missense_Mutation_p.L42P NM_002429 NP_002420 Q99542 MMP19_HUMAN matrix metalloproteinase 19 isoform rasi-1 42 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1) 1 AGATCCTTCTAGAGGCTTCTG 0.453 NA 7 110 0 0 0.004482 0 0 NUP107 57122 broad.mit.edu 37 12 69115750 69115750 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:69115750G>C uc001suf.2 + 16 1556 c.1441G>C c.(1441-1443)GAA>CAA p.E481Q NUP107_uc001sug.2_Missense_Mutation_p.E328Q|NUP107_uc010stj.1_Missense_Mutation_p.E452Q NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 481 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) ACTCCCTAGAGAATATCTGGG 0.428 NA 24 34 0 0 0.004656 0 0 KERA 11081 broad.mit.edu 37 12 91449763 91449763 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:91449763C>G uc001tbl.2 - 2 915 c.296G>C c.(295-297)TGG>TCG p.W99S NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 99 LRR 2. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 TAGATTTATCCATCTTAGCTG 0.368 NA 27 56 0 0 0.003954 0 0 SSH1 54434 broad.mit.edu 37 12 109182463 109182463 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:109182463C>T uc001tnm.2 - 15 2538 c.2451G>A c.(2449-2451)CAG>CAA p.Q817Q SSH1_uc001tnl.2_Silent_p.Q505Q NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 817 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 AGCCTGCCTTCTGCAGCTGAA 0.587 NA 10 71 0 0 0.008291 0 0 OAS2 4939 broad.mit.edu 37 12 113445593 113445593 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:113445593G>T uc001tuj.2 + 9 1880 c.1740G>T c.(1738-1740)GGG>GGT p.G580G OAS2_uc001tui.1_Silent_p.G580G NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 580 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 GGGAGCAGGGGAGTGGAGTGC 0.517 Pancreas(199;709 2232 18410 33584 35052) NA 8 126 1.12685e-05 1.44391e-05 0.004482 1 0 RNFT2 84900 broad.mit.edu 37 12 117271635 117271635 + Silent SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:117271635G>C uc009zwn.2 + 8 1154 c.921G>C c.(919-921)CTG>CTC p.L307L RNFT2_uc001twb.3_Silent_p.L307L|RNFT2_uc001twa.3_Silent_p.L217L|RNFT2_uc001twc.3_Silent_p.L55L NM_001109903 NP_001103373 Q96EX2 RNFT2_HUMAN transmembrane protein 118 isoform 1 307 Cytoplasmic (Potential). integral to membrane zinc ion binding 0 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) TGAGCCAGCTGTTCCGATCCC 0.498 NA 19 29 0 0 0.008871 0 0 ANAPC5 51433 broad.mit.edu 37 12 121758194 121758194 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:121758194G>A uc001uag.2 - 12 1631 c.1509C>T c.(1507-1509)CAC>CAT p.H503H ANAPC5_uc010szu.1_Silent_p.H169H|ANAPC5_uc001uae.2_Silent_p.H67H|ANAPC5_uc010szv.1_Silent_p.H105H|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Silent_p.H391H|ANAPC5_uc001uai.1_Silent_p.H105H NM_016237 NP_057321 Q9UJX4 APC5_HUMAN anaphase-promoting complex subunit 5 isoform a 503 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity skin(3)|breast(2)|kidney(1) 6 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TTACCTGGGCGTGCTGACTAT 0.353 NA 6 44 0 0 0.001984 0 0 RNF17 56163 broad.mit.edu 37 13 25433215 25433215 + Nonsense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr13:25433215G>A uc001upr.2 + 26 3728 c.3687G>A c.(3685-3687)TGG>TGA p.W1229* RNF17_uc010tdd.1_Nonsense_Mutation_p.W1088*|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Nonsense_Mutation_p.W1225*|RNF17_uc001ups.2_Nonsense_Mutation_p.W1168*|RNF17_uc010aac.2_Nonsense_Mutation_p.W427*|RNF17_uc010aad.2_Nonsense_Mutation_p.W281* NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 1229 Tudor 3. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTTATTTCTGGAAAAAAGGAG 0.373 NA 6 32 0 0 0.001168 0 0 SMAD9 4093 broad.mit.edu 37 13 37427691 37427691 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr13:37427691C>A uc001uvw.2 - 6 1468 c.1125G>T c.(1123-1125)AAG>AAT p.K375N SMAD9_uc001uvx.2_Missense_Mutation_p.K338N|SMAD9_uc010tep.1_Missense_Mutation_p.K168N NM_001127217 NP_001120689 O15198 SMAD9_HUMAN SMAD family member 9 isoform a 375 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) CGCTGGGGATCTTGCAGACGG 0.567 NA 13 34 4.3838e-07 5.95702e-07 0.001855 1 0 MYCBP2 23077 broad.mit.edu 37 13 77831856 77831856 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr13:77831856T>C uc001vkf.2 - 15 2103 c.2012A>G c.(2011-2013)AAT>AGT p.N671S MYCBP2_uc010aev.2_Missense_Mutation_p.N75S NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 671 RCC1 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTGTCCTTTATTATTTACACC 0.383 NA 48 79 0 0 0.00361 0 0 RNF113B 140432 broad.mit.edu 37 13 98829015 98829015 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr13:98829015G>C uc001vnk.2 - 1 507 c.476C>G c.(475-477)CCC>CGC p.P159R FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN ring finger protein 113B 159 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CGTGTCCTTGGGCTTCAGGTA 0.647 NA 19 54 0 0 0.006122 0 0 OR4K2 390431 broad.mit.edu 37 14 20345265 20345265 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:20345265C>A uc001vwh.1 + 1 839 c.839C>A c.(838-840)CCC>CAC p.P280H NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCTTTACTCCCACTCTGAAC 0.378 NA 29 56 8.58068e-18 1.377e-17 0.007291 1 0 SLC7A8 23428 broad.mit.edu 37 14 23598917 23598917 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:23598917G>A uc001wiz.2 - 9 1931 c.1205C>T c.(1204-1206)ACG>ATG p.T402M SLC7A8_uc001wiw.2_Missense_Mutation_p.T19M|SLC7A8_uc001wix.2_Missense_Mutation_p.T199M|SLC7A8_uc010tnk.1_Missense_Mutation_p.T178M|SLC7A8_uc010tnl.1_Missense_Mutation_p.T297M|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Intron NM_012244 NP_036376 Q9UHI5 LAT2_HUMAN solute carrier family 7 (cationic amino acid 402 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity ovary(1) 1 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) TCCAGCAACCGTGACCCCATA 0.542 NA 22 149 0 0 0.00278 0 0 MYH7 4625 broad.mit.edu 37 14 23884616 23884616 + Nonsense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:23884616C>A uc001wjx.2 - 36 5363 c.5257G>T c.(5257-5259)GAG>TAG p.E1753* NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1753 Potential. E -> K (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) TTGGCCTTCTCCTCAGCATTC 0.577 NA 51 81 3.10996e-30 5.32009e-30 0.00361 1 0 SLC8A3 6547 broad.mit.edu 37 14 70634870 70634870 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:70634870C>T uc001xly.2 - 2 1024 c.270G>A c.(268-270)GGG>GGA p.G90G SLC8A3_uc001xlw.2_Silent_p.G90G|SLC8A3_uc001xlx.2_Silent_p.G90G|SLC8A3_uc001xlz.2_Silent_p.G90G|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 90 Helical; (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TGATGGACACCCCAAGGAACA 0.488 NA 4 41 0 0 0.000248 0 0 EML5 161436 broad.mit.edu 37 14 89087624 89087624 + Silent SNP T T G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:89087624T>G uc001xxg.2 - 38 5221 c.5035A>C c.(5035-5037)AGG>CGG p.R1679R EML5_uc001xxf.2_Silent_p.R466R|EML5_uc001xxd.2_5'Flank|EML5_uc001xxe.2_Silent_p.R28R NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1671 cytoplasm|microtubule ovary(3) 3 TCAGCATTCCTTGTCCCAACA 0.398 NA 51 73 0 0 0.00361 0 0 FAM181A 90050 broad.mit.edu 37 14 94394694 94394694 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:94394694C>T uc001ybz.1 + 3 556 c.249C>T c.(247-249)ATC>ATT p.I83I C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.I21I|FAM181A_uc001yca.1_Silent_p.I21I NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 83 0 CCAGCGACATCAAGGCAGCCC 0.597 NA 12 37 0 0 0.001368 0 0 OCA2 4948 broad.mit.edu 37 15 28231765 28231765 + Missense_Mutation SNP C C G rs140703213 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:28231765C>G uc001zbh.3 - 12 1317 c.1207G>C c.(1207-1209)GAA>CAA p.E403Q OCA2_uc010ayv.2_Missense_Mutation_p.E379Q NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 403 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AATCCCGTTTCTGAAAATATG 0.313 NA Oculocutaneous_Albinism 34 61 0 0 0.00623 0 0 RYR3 6263 broad.mit.edu 37 15 33962744 33962744 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:33962744G>A uc001zhi.2 + 38 5917 c.5847G>A c.(5845-5847)GAG>GAA p.E1949E RYR3_uc010bar.2_Silent_p.E1949E NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1949 4 X approximate repeats.|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) CGGAGGAGGAGGAGAGATGCC 0.403 NA 23 55 0 0 0.003954 0 0 SLC12A6 9990 broad.mit.edu 37 15 34546597 34546597 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:34546597G>A uc001zhw.2 - 8 1234 c.1070C>T c.(1069-1071)GCC>GTC p.A357V SLC12A6_uc001zhv.2_Missense_Mutation_p.A306V|SLC12A6_uc001zhx.2_Missense_Mutation_p.A342V|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.A298V|SLC12A6_uc001zib.2_Missense_Mutation_p.A348V|SLC12A6_uc001zic.2_Missense_Mutation_p.A357V|SLC12A6_uc010bau.2_Missense_Mutation_p.A357V|SLC12A6_uc001zid.2_Missense_Mutation_p.A298V|SLC12A6_uc001zhu.2_Missense_Mutation_p.A169V NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 357 Helical; (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AGCATAGATGGCCAAGATGGA 0.458 NA 27 42 0 0 0.004656 0 0 ZFP106 64397 broad.mit.edu 37 15 42714782 42714782 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:42714782G>A uc001zpw.2 - 15 5556 c.5221C>T c.(5221-5223)CAT>TAT p.H1741Y ZFP106_uc001zpu.2_Missense_Mutation_p.H839Y|ZFP106_uc001zpv.2_Missense_Mutation_p.H926Y|ZFP106_uc001zpx.2_Missense_Mutation_p.H969Y NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 1741 WD 5. nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) GTCACTGCATGATTGTGACCT 0.418 NA 14 31 0 0 0.001855 0 0 GABPB1 2553 broad.mit.edu 37 15 50595319 50595319 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:50595319T>C uc001zyb.2 - 4 702 c.278A>G c.(277-279)CAT>CGT p.H93R GABPB1_uc001zya.2_Missense_Mutation_p.H93R|GABPB1_uc010ufg.1_Missense_Mutation_p.H17R|GABPB1_uc001zyc.2_Missense_Mutation_p.H93R|GABPB1_uc001zyd.2_Missense_Mutation_p.H93R|GABPB1_uc001zye.2_Missense_Mutation_p.H93R|GABPB1_uc001zyf.2_Missense_Mutation_p.H93R NM_005254 NP_005245 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta 93 ANK 3. positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1) 1 ATCAGCACCATGCTACAAAAA 0.318 NA 17 16 0 0 0.006122 0 0 PAQR5 54852 broad.mit.edu 37 15 69692415 69692415 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:69692415C>T uc002arz.2 + 8 1090 c.712C>T c.(712-714)CTG>TTG p.L238L PAQR5_uc002asa.2_Silent_p.L238L NM_017705 NP_060175 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 238 Extracellular (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding ovary(2) 2 CTCTGCACATCTGCCAGAACG 0.567 NA 19 136 0 0 0.007413 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74364587 74364587 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:74364587G>T uc002axa.1 - 14 1606 c.1565C>A c.(1564-1566)CCA>CAA p.P522Q uc010ulg.1_5'Flank NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN golgi autoantigen, golgin subfamily a, 6 522 Potential. 0 CAGGTCCTCTGGGATGTTTGG 0.637 NA 6 146 3.99206e-14 6.28656e-14 0.007413 1 0 CHRNB4 1143 broad.mit.edu 37 15 78921352 78921352 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:78921352C>T uc002bed.1 - 5 1407 c.1295G>A c.(1294-1296)AGC>AAC p.S432N CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.S250N NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 432 Cytoplasmic (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 GGCGATGAAGCTGACACCTTC 0.572 NA 14 39 0 0 0.001855 0 0 AKAP13 11214 broad.mit.edu 37 15 86122780 86122780 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:86122780G>T uc002blv.1 + 7 1651 c.1481G>T c.(1480-1482)TGG>TTG p.W494L AKAP13_uc002blt.1_Missense_Mutation_p.W494L|AKAP13_uc002blu.1_Missense_Mutation_p.W494L NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 494 RII-binding. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GCCACTGTTTGGAAGAATGTG 0.488 Melanoma(94;603 1453 3280 32295 32951) NA 32 53 3.57733e-08 5.04418e-08 0.001786 1 0 AGBL1 123624 broad.mit.edu 37 15 86702217 86702217 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:86702217G>C uc002blz.1 + 4 390 c.310G>C c.(310-312)GTT>CTT p.V104L NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 104 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GCTTTTCAAGGTTATTACTCC 0.448 NA 27 72 0 0 0.004656 0 0 ACAN 176 broad.mit.edu 37 15 89398733 89398733 + Missense_Mutation SNP C C A rs141525827 by1000genomes TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:89398733C>A uc010upo.1 + 12 3291 c.2917C>A c.(2917-2919)CTC>ATC p.L973I ACAN_uc010upp.1_Missense_Mutation_p.L973I|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 973 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTAGGAGACCTCAGTGGGCT 0.557 NA 100 186 6.51614e-51 1.14971e-50 0.00361 1 0 LRRC28 123355 broad.mit.edu 37 15 99828072 99828072 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:99828072G>A uc002bva.1 + 5 456 c.301G>A c.(301-303)GAA>AAA p.E101K LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_5'UTR|LRRC28_uc002bvc.1_Missense_Mutation_p.E101K|LRRC28_uc010uru.1_Missense_Mutation_p.E101K|LRRC28_uc002bvd.1_Intron NM_144598 NP_653199 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 101 LRR 4. 0 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) CAATGCCTTAGAAATTGTTTG 0.388 NA 17 53 0 0 0.00499 0 0 LRRC28 123355 broad.mit.edu 37 15 99828097 99828097 + Missense_Mutation SNP G G T rs146950856 byFrequency TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:99828097G>T uc002bva.1 + 5 481 c.326G>T c.(325-327)CGT>CTT p.R109L LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_5'UTR|LRRC28_uc002bvc.1_Missense_Mutation_p.R109L|LRRC28_uc010uru.1_Missense_Mutation_p.R109L|LRRC28_uc002bvd.1_Intron NM_144598 NP_653199 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 109 LRR 4. 0 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) GAAATTGGTCGTCTGAGAGCT 0.398 NA 12 50 7.03913e-09 1.01811e-08 0.001368 1 0 HBA2 3040 broad.mit.edu 37 16 223583 223583 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:223583C>T uc002cfv.3 + 3 479 c.413C>T c.(412-414)ACC>ATC p.T138I HBA2_uc002cfw.2_Intron NM_000517 NP_000508 P69905 HBA_HUMAN alpha 2 globin 138 hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding 0 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468) ACCGTGCTGACCTCCAAATAC 0.677 GBM(107;1340 2104 14383 27419) NA OREG0003686 type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 28 0 0 0.008291 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923360 9923360 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:9923360C>T uc002czo.3 - 9 2475 c.1927G>A c.(1927-1929)GCT>ACT p.A643T GRIN2A_uc010uym.1_Missense_Mutation_p.A643T|GRIN2A_uc010uyn.1_Missense_Mutation_p.A486T|GRIN2A_uc002czr.3_Missense_Mutation_p.A643T NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 643 Helical; (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTGTAGCTAGCCAGGAATATG 0.507 NA 18 52 0 0 0.006122 0 0 XYLT1 64131 broad.mit.edu 37 16 17294340 17294340 + Missense_Mutation SNP T T G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:17294340T>G uc002dfa.2 - 4 1170 c.1085A>C c.(1084-1086)AAG>ACG p.K362T NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 362 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GCCTCTCACCTTGTCCACGTG 0.582 NA 6 89 0 0 0.001168 0 0 SLC7A5P2 387254 broad.mit.edu 37 16 21531505 21531505 + Missense_Mutation SNP A A C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:21531505A>C uc002djd.2 - 1 261 c.182T>G c.(181-183)GTC>GGC p.V61G uc002diq.3_Intron|LOC100271836_uc002dja.2_RNA|LOC100271836_uc002djb.2_RNA NR_002594 RecName: Full=Putative L-type amino acid transporter 1-like protein MLAS; AltName: Full=hLAT1 3-transmembrane protein MLAS; Short=hLAT1 3TM MLAS; 0 CATGATGGCGACCACGATGAC 0.736 NA 5 47 0 0 0.001984 0 0 ZNF629 23361 broad.mit.edu 37 16 30793208 30793208 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:30793208C>A uc002dzs.1 - 3 2649 c.2441G>T c.(2440-2442)GGT>GTT p.G814V NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 814 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) CTCGCCCTCACCTTCCTGATC 0.612 NA 37 86 2.51541e-25 4.23847e-25 0.004878 1 0 ZNF423 23090 broad.mit.edu 37 16 49671140 49671140 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:49671140G>C uc002efs.2 - 5 2221 c.1923C>G c.(1921-1923)TTC>TTG p.F641L ZNF423_uc010vgn.1_Missense_Mutation_p.F524L NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 641 C2H2-type 14. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CAAAGTTGGAGAACTTGAGGT 0.582 NA 4 44 0 0 0.000602 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416636 57416636 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:57416636A>T uc002eli.2 + 3 953 c.886A>T c.(886-888)ACC>TCC p.T296S NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 296 Mucin-like stalk.|Extracellular (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 CTCAGAAGGGACCCCCAGCAG 0.657 NA 7 67 0 0 0.004482 0 0 GEMIN4 50628 broad.mit.edu 37 17 650493 650493 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:650493C>T uc002frs.1 - 2 909 c.790G>A c.(790-792)GTG>ATG p.V264M GEMIN4_uc010vqa.1_Silent_p.P176P NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 264 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TCCAGATACACGGTTGCAGAC 0.612 NA 6 178 0 0 0.001168 0 0 DERL2 51009 broad.mit.edu 37 17 5389496 5389496 + Splice_Site SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:5389496C>A uc002gcc.1 - 1 4 c.-12_splice c.e1-1 MIS12_uc002gcd.2_5'Flank|MIS12_uc002gce.2_5'Flank NM_016041 NP_057125 Q9GZP9 DERL2_HUMAN Der1-like domain family, member 2 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane protein binding 0 CCCACCGTCGCCTGCCCCACC 0.592 NA 4 2 0.000602214 0.000709602 0.000602 1 0 MYH2 4620 broad.mit.edu 37 17 10427153 10427153 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:10427153G>T uc010coi.2 - 36 5352 c.5224C>A c.(5224-5226)CAA>AAA p.Q1742K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Q1742K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1742 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CCTTGCATTTGGGAAATATCT 0.423 NA 5 79 0.00116845 0.00135315 0.001168 1 0 MYH2 4620 broad.mit.edu 37 17 10432354 10432354 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:10432354C>A uc010coi.2 - 27 3525 c.3397G>T c.(3397-3399)GCC>TCC p.A1133S uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1133S|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1133 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GCCCGGGAGGCCCGCTCTGCC 0.602 NA 17 60 8.10497e-08 1.13335e-07 0.001523 1 0 MYH3 4621 broad.mit.edu 37 17 10536009 10536009 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:10536009C>A uc002gmq.1 - 33 4817 c.4740G>T c.(4738-4740)AAG>AAT p.K1580N NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1580 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TCTCTTCATCCTTCTCGGCGA 0.498 NA 13 216 5.50884e-06 7.19565e-06 0.001368 1 0 CCDC144A 9720 broad.mit.edu 37 17 16593728 16593728 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:16593728G>T uc002gqk.1 + 1 90 c.14G>T c.(13-15)GGT>GTT p.G5V NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 5 0 GCCTCCTGGGGTGGAGAAAAG 0.642 NA 5 15 5.9392e-07 8.03819e-07 0.001168 1 0 KIAA0100 9703 broad.mit.edu 37 17 26966412 26966412 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:26966412C>T uc002hbu.2 - 11 1249 c.1150G>A c.(1150-1152)GAA>AAA p.E384K KIAA0100_uc002hbv.2_Missense_Mutation_p.E384K NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 384 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) TGAGAGAATTCCTGGTGCCGG 0.478 NA 20 31 0 0 0.007413 0 0 CCL23 6368 broad.mit.edu 37 17 34340812 34340812 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:34340812T>A uc002hkt.1 - 3 294 c.223A>T c.(223-225)AAC>TAC p.N75Y CCL23_uc002hks.1_Missense_Mutation_p.N92Y NM_145898 NP_665905 P55773 CCL23_HUMAN small inducible cytokine A23 isoform CKbeta8 75 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) CACTCGCTGTTCGTTTCAAAG 0.522 NA 20 22 0 0 0.007413 0 0 PLXDC1 57125 broad.mit.edu 37 17 37296019 37296019 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:37296019G>C uc002hrg.2 - 2 355 c.143C>G c.(142-144)GCC>GGC p.A48G PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 48 Extracellular (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 GCTCTCTCGGGCTCTCCGGTT 0.662 NA 33 38 0 0 0.003755 0 0 BZRAP1 9256 broad.mit.edu 37 17 56400737 56400737 + Silent SNP C C A rs140181266 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:56400737C>A uc002ivx.3 - 7 1897 c.1026G>T c.(1024-1026)TCG>TCT p.S342S BZRAP1_uc010dcs.2_Silent_p.S282S|BZRAP1_uc010wnt.1_Silent_p.S342S NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 342 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGCTGAGCTCCGATTCCTGAG 0.582 NA 13 153 4.3838e-07 5.95702e-07 0.001855 1 0 FASN 2194 broad.mit.edu 37 17 80042140 80042140 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:80042140G>A uc002kdu.2 - 28 5006 c.4889C>T c.(4888-4890)CCG>CTG p.P1630L FASN_uc002kdv.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 1630 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GAGGAAGTCCGGTGACAGCAG 0.652 Colon(59;314 1043 11189 28578 32273) NA 9 11 0 0 0.004482 0 0 FASN 2194 broad.mit.edu 37 17 80051597 80051597 + Missense_Mutation SNP C C A rs145409565 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:80051597C>A uc002kdu.2 - 4 448 c.331G>T c.(331-333)GTG>TTG p.V111L NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 111 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GAGCCGCTCACGCCCACCCAG 0.662 Colon(59;314 1043 11189 28578 32273) NA 23 61 1.96895e-08 2.81159e-08 0.00278 1 0 RBBP8 5932 broad.mit.edu 37 18 20572830 20572830 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr18:20572830C>T uc002ktw.2 + 11 1371 c.1040C>T c.(1039-1041)TCC>TTC p.S347F RBBP8_uc002kty.2_Missense_Mutation_p.S347F|RBBP8_uc002ktz.2_Missense_Mutation_p.S347F|RBBP8_uc002kua.2_Missense_Mutation_p.S347F|RBBP8_uc002ktx.1_Missense_Mutation_p.S347F NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 347 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) ACAAGTTTGTCCCCTTCTCTT 0.358 NA Direct_reversal_of_damage|Homologous_recombination 15 40 0 0 0.004007 0 0 ASXL3 80816 broad.mit.edu 37 18 31323767 31323767 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr18:31323767G>T uc010dmg.1 + 12 4010 c.3955G>T c.(3955-3957)GAT>TAT p.D1319Y ASXL3_uc002kxq.2_Missense_Mutation_p.D1026Y NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1319 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AAGCTCCATGGATGATAAGCA 0.453 NA 72 132 4.38816e-42 7.70214e-42 0.00361 1 0 FHOD3 80206 broad.mit.edu 37 18 34298499 34298499 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr18:34298499A>G uc002kzt.1 + 15 2759 c.2662A>G c.(2662-2664)ACT>GCT p.T888A FHOD3_uc002kzs.1_Missense_Mutation_p.T905A|FHOD3_uc010dmz.1_Missense_Mutation_p.T620A|FHOD3_uc010dna.1_Missense_Mutation_p.T208A NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 888 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GCCCACATTCACTAAGAAAAA 0.507 NA 25 74 0 0 0.003954 0 0 CDH19 28513 broad.mit.edu 37 18 64202248 64202248 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr18:64202248G>T uc002lkc.1 - 8 1449 c.1311C>A c.(1309-1311)AAC>AAA p.N437K CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.N437K|CDH19_uc002lkd.2_Missense_Mutation_p.N437K NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 437 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TAATACTTAGGTTGTACCAAG 0.328 NA 21 36 8.10497e-08 1.13335e-07 0.001523 1 0 C3 718 broad.mit.edu 37 19 6712321 6712321 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:6712321C>G uc002mfm.2 - 11 1278 c.1216G>C c.(1216-1218)GTG>CTG p.V406L NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 406 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AGTTTGGCCACGCCATCTCCC 0.617 NA 25 19 0 0 0.00333 0 0 PDE4A 5141 broad.mit.edu 37 19 10577915 10577915 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:10577915C>T uc002moj.2 + 15 2387 c.2279C>T c.(2278-2280)TCG>TTG p.S760L PDE4A_uc002mok.2_Missense_Mutation_p.S734L|PDE4A_uc002mol.2_Missense_Mutation_p.S699L|PDE4A_uc002mom.2_Missense_Mutation_p.S521L|PDE4A_uc002mon.2_Missense_Mutation_p.S215L|PDE4A_uc002moo.2_3'UTR NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 760 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GCCCAGGAGTCGTTGGAAGTT 0.607 NA 5 58 0 0 0.000602 0 0 SMARCA4 6597 broad.mit.edu 37 19 11141507 11141507 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:11141507G>T uc002mqf.3 + 25 3768 c.3484G>T c.(3484-3486)GGC>TGC p.G1162C SMARCA4_uc010dxp.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1162C|SMARCA4_uc002mqg.1_Missense_Mutation_p.G1162C|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1162C|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1162C|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxt.1_Missense_Mutation_p.G382C|SMARCA4_uc002mqh.3_Missense_Mutation_p.G285C|SMARCA4_uc002mqi.1_Missense_Mutation_p.G365C NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1162 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGGGGGGCTCGGCCTGAACCT 0.607 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 11 8 3.86212e-05 4.76752e-05 0.008291 1 0 FAM129C 199786 broad.mit.edu 37 19 17653058 17653058 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:17653058G>T uc010xpr.1 + 11 1515 c.1377G>T c.(1375-1377)CTG>CTT p.L459L FAM129C_uc010xpq.1_Silent_p.L459L|FAM129C_uc002ngy.3_Silent_p.L185L|FAM129C_uc010xpu.1_Silent_p.L185L|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Silent_p.L185L|FAM129C_uc002nhb.2_Silent_p.L58L NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 459 0 TTGGCTTTCTGGGGATGCAGA 0.607 NA 14 130 1.49906e-05 1.89207e-05 0.00245 1 0 ARHGAP33 115703 broad.mit.edu 37 19 36279099 36279099 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:36279099G>A uc002obs.1 + 21 3234 c.3149G>A c.(3148-3150)CGG>CAG p.R1050Q ARHGAP33_uc002obt.1_Missense_Mutation_p.R1047Q|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.R799Q NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 1211 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 CAGAAACAACGGGCACCCTGG 0.697 NA 5 75 0 0 0.001168 0 0 CLIP3 25999 broad.mit.edu 37 19 36508329 36508329 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:36508329G>T uc010eeq.1 - 11 1757 c.1475C>A c.(1474-1476)CCC>CAC p.P492H uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.P492H NM_015526 NP_056341 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 492 GoLD. chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCTGTCCCCGGGGGAATCAGT 0.572 NA 5 75 0.000602214 0.000709602 0.000602 1 0 IL28B 282617 broad.mit.edu 37 19 39734506 39734506 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:39734506G>T uc010xut.1 - 4 454 c.450C>A c.(448-450)CGC>CGA p.R150R IL28B_uc010xuu.1_Silent_p.R150R NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 150 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AATGGTGGAGGCGGCCCCGGG 0.692 NA 22 91 2.98393e-07 4.08774e-07 0.00278 1 0 IL28B 282617 broad.mit.edu 37 19 39735475 39735475 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:39735475G>A uc010xut.1 - 1 137 c.133C>T c.(133-135)CTG>TTG p.L45L IL28B_uc010xuu.1_Silent_p.L45L NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 45 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TGTGGAGACAGGGACTTGAAC 0.632 NA 17 38 0 0 0.006122 0 0 ZNF226 7769 broad.mit.edu 37 19 44680673 44680673 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:44680673A>G uc002oyp.2 + 6 1402 c.1258A>G c.(1258-1260)AAA>GAA p.K420E ZNF226_uc002oyq.2_Missense_Mutation_p.K303E|ZNF226_uc002oyr.2_Missense_Mutation_p.K303E|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.K420E|ZNF226_uc002oyt.2_Missense_Mutation_p.K420E NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 420 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) GAAACCATACAAATGTGAGGA 0.418 Pancreas(115;581 1665 13228 19278 50070) NA 24 48 0 0 0.002299 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48183951 48183951 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:48183951G>T uc002phh.3 + 6 1718 c.1524G>T c.(1522-1524)CAG>CAT p.Q508H GLTSCR1_uc002phi.3_Missense_Mutation_p.Q266H NM_015711 NP_056526 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 508 protein binding pancreas(3) 3 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CAGGTGGACAGCTCATCGCGA 0.731 NA 27 27 3.65163e-15 5.77746e-15 0.00632 1 0 NLRP12 91662 broad.mit.edu 37 19 54312855 54312855 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:54312855C>A uc002qch.3 - 3 2278 c.2058G>T c.(2056-2058)ACG>ACT p.T686T NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.T686T|NLRP12_uc002qcj.3_Silent_p.T686T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.T686T NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 686 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCACCAACAGCGTGTGCGCTC 0.517 NA 6 21 8.12818e-05 9.92463e-05 0.001984 1 0 CNOT3 4849 broad.mit.edu 37 19 54656017 54656017 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:54656017T>C uc002qdj.1 + 14 1971 c.1660T>C c.(1660-1662)TCT>CCT p.S554P CNOT3_uc010yel.1_Missense_Mutation_p.S554P|CNOT3_uc002qdi.2_Missense_Mutation_p.S467P|CNOT3_uc002qdk.1_Missense_Mutation_p.S554P|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Missense_Mutation_p.S9P NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 554 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGCCATCAGCTCTGGCATTGA 0.652 NA 22 49 0 0 0.001882 0 0 LILRA2 11027 broad.mit.edu 37 19 55085802 55085802 + Silent SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:55085802A>T uc002qgg.3 + 3 194 c.105A>T c.(103-105)CCA>CCT p.P35P LILRA2_uc010ern.2_Silent_p.P35P|LILRA2_uc002qgf.2_Silent_p.P35P|LILRA2_uc010yfe.1_Silent_p.P35P|LILRA2_uc010yff.1_Silent_p.P23P|LILRA2_uc010ero.2_Silent_p.P23P|LILRA2_uc010yfg.1_Silent_p.P35P NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 35 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) GGGCTGAGCCAGGCTCTGTGA 0.547 NA 6 126 0 0 0.001168 0 0 PTPRH 5794 broad.mit.edu 37 19 55713663 55713663 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:55713663A>G uc002qjq.2 - 6 987 c.914T>C c.(913-915)GTG>GCG p.V305A PTPRH_uc010esv.2_Missense_Mutation_p.V127A|PTPRH_uc002qjs.2_Missense_Mutation_p.V312A NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 305 Extracellular (Potential).|Fibronectin type-III 4. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTGAGCCTCCACTGTCAGGTT 0.552 NA 16 43 0 0 0.00499 0 0 BRSK1 84446 broad.mit.edu 37 19 55798406 55798406 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:55798406G>T uc002qkg.2 + 2 445 c.168G>T c.(166-168)ACG>ACT p.T56T BRSK1_uc002qkf.2_Silent_p.T72T NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 56 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) ACTGCATCACGGGTCAGAAGG 0.637 NA 7 86 1.12685e-05 1.44391e-05 0.004482 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704114 56704114 + Nonsense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:56704114A>T uc010ygh.1 - 1 308 c.308T>A c.(307-309)TTA>TAA p.L103* NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 103 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CACCTTGACTAAGACCTGGAG 0.542 NA 7 67 0 0 0.004482 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58187634 58187634 + Nonsense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:58187634G>T uc002qpu.2 + 3 818 c.121G>T c.(121-123)GAG>TAG p.E41* NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 41 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGGGATTTCTGAGTTCTCAAG 0.398 NA 11 33 6.40141e-05 7.84464e-05 0.000978 1 0 ZNF606 80095 broad.mit.edu 37 19 58490705 58490705 + Missense_Mutation SNP C C G rs138065835 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:58490705C>G uc002qqw.2 - 7 1961 c.1343G>C c.(1342-1344)CGG>CCG p.R448P ZNF606_uc010yhp.1_Missense_Mutation_p.R358P NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 448 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) AGTGTGAGTCCGTTCATGTTT 0.353 NA 6 22 0 0 0.001168 0 0 C2orf71 388939 broad.mit.edu 37 2 29295617 29295617 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:29295617G>T uc002rmt.1 - 1 1511 c.1511C>A c.(1510-1512)GCC>GAC p.A504D NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 504 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 TTCCTGCCAGGCACACAGACT 0.562 NA 31 91 2.81731e-10 4.20104e-10 0.002096 1 0 CYP26B1 56603 broad.mit.edu 37 2 72360433 72360433 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:72360433C>G uc002sih.1 - 5 865 c.865G>C c.(865-867)GGG>CGG p.G289R CYP26B1_uc010yra.1_Missense_Mutation_p.G272R|CYP26B1_uc010yrb.1_Missense_Mutation_p.G214R NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 289 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 TCCAGGGTCCCGTCCTGCAGG 0.632 NA 10 20 0 0 0.001368 0 0 CCT7 10574 broad.mit.edu 37 2 73461511 73461511 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:73461511T>A uc002siz.2 + 1 107 c.5T>A c.(4-6)ATG>AAG p.M2K C2orf7_uc002siy.2_5'Flank|CCT7_uc002sja.2_Missense_Mutation_p.M2K|CCT7_uc010yrf.1_5'UTR|CCT7_uc010feu.2_Missense_Mutation_p.M2K|CCT7_uc010yrg.1_5'UTR|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Missense_Mutation_p.M2K NM_006429 NP_006420 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 isoform a 2 'de novo' posttranslational protein folding ATP binding|unfolded protein binding 0 TCCAAAATGATGGTGAGTGGC 0.627 NA 12 21 0 0 0.000978 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530196 80530196 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:80530196C>A uc002sok.1 - 2 1019 c.749G>T c.(748-750)AGC>ATC p.S250I CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 250 LRR 7.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GTCCAGCGAGCTGACCACAAT 0.592 NA HNSCC(69;0.2) 12 58 0.000978159 0.00114857 0.000978 1 0 GPR17 2840 broad.mit.edu 37 2 128409091 128409091 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:128409091A>T uc010yzn.1 + 4 1477 c.866A>T c.(865-867)CAC>CTC p.H289L LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.H289L|GPR17_uc010yzo.1_Missense_Mutation_p.H261L|GPR17_uc002tpd.2_Missense_Mutation_p.H261L NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 289 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) TACGTGCTGCACTACCGCAGC 0.652 NA 18 33 0 0 0.00499 0 0 RAB6C 84084 broad.mit.edu 37 2 130738011 130738011 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:130738011T>C uc002tpx.1 + 1 777 c.323T>C c.(322-324)ATT>ACT p.I108T uc002tpw.1_RNA NM_032144 NP_115520 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 108 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity lung(1) 1 Colorectal(110;0.1) ACAAAGTGGATTGATGATGTC 0.433 NA 21 196 0 0 0.00632 0 0 PKP4 8502 broad.mit.edu 37 2 159533379 159533379 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:159533379G>T uc002tzv.2 + 20 3516 c.3256G>T c.(3256-3258)GGC>TGC p.G1086C PKP4_uc002tzw.2_Intron|PKP4_uc002tzx.2_Missense_Mutation_p.G743C|PKP4_uc002uaa.2_Intron|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.G267C|PKP4_uc002uad.2_RNA|PKP4_uc002uae.1_Missense_Mutation_p.G173C NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 1086 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 CCTGTACCCTGGTAAGACGCC 0.517 NA HNSCC(62;0.18) 30 42 3.69857e-22 6.13998e-22 0.008361 1 0 XIRP2 129446 broad.mit.edu 37 2 168074801 168074801 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:168074801A>G uc002udx.2 + 4 867 c.849A>G c.(847-849)AGA>AGG p.R283R XIRP2_uc010fpn.2_Silent_p.R316R|XIRP2_uc010fpo.2_Silent_p.R283R|XIRP2_uc010fpp.2_Silent_p.R283R|XIRP2_uc002udy.2_Silent_p.R108R|XIRP2_uc010fpq.2_Silent_p.R61R|XIRP2_uc010fpr.2_Silent_p.R61R NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 108 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATCAGAACAGATCTGAGCAGG 0.408 NA 6 36 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179578033 179578033 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:179578033A>G uc010zfg.1 - 90 23320 c.23096T>C c.(23095-23097)GTT>GCT p.V7699A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4360A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8626 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) CTCCATTACAACTGAGGAGCC 0.393 NA 4 11 0 0 0.000248 0 0 OSGEPL1 64172 broad.mit.edu 37 2 190619958 190619958 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:190619958A>T uc002uqz.1 - 3 1084 c.550T>A c.(550-552)TCA>ACA p.S184T OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Missense_Mutation_p.S184T NM_022353 NP_071748 Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 184 proteolysis|tRNA processing metalloendopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) AGAAAATCTGAAACTCCTTGA 0.348 NA 28 22 0 0 0.007291 0 0 PTH2R 5746 broad.mit.edu 37 2 209309504 209309504 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:209309504A>G uc002vdb.2 + 7 958 c.745A>G c.(745-747)ACA>GCA p.T249A PTH2R_uc010zjb.1_Missense_Mutation_p.T260A NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 249 Helical; Name=3; (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) CTTCCTGGCTACAAATTATTA 0.383 NA 9 120 0 0 0.006214 0 0 ERBB4 2066 broad.mit.edu 37 2 212248356 212248356 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:212248356C>A uc002veg.1 - 28 4009 c.3911G>T c.(3910-3912)CGG>CTG p.R1304L ERBB4_uc002veh.1_Missense_Mutation_p.R1288L|ERBB4_uc010zji.1_Missense_Mutation_p.R1294L|ERBB4_uc010zjj.1_Missense_Mutation_p.R1278L NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1304 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CACAGTATTCCGGTGTCTGTA 0.532 NA TSP Lung(8;0.080) 12 42 7.93312e-07 1.06938e-06 0.00245 1 0 SLC11A1 6556 broad.mit.edu 37 2 219249930 219249930 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:219249930C>T uc002vhv.2 + 4 674 c.334C>T c.(334-336)CGT>TGT p.R112C SLC11A1_uc010zkb.1_Missense_Mutation_p.R112C|SLC11A1_uc010fvp.1_Missense_Mutation_p.R112C|SLC11A1_uc010fvq.1_Missense_Mutation_p.R45C|SLC11A1_uc010zkc.1_Missense_Mutation_p.R45C|SLC11A1_uc002vhu.1_Translation_Start_Site|SLC11A1_uc002vhw.2_Translation_Start_Site|SLC11A1_uc010fvr.2_5'Flank NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 112 Cytoplasmic (Potential). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTGGCTGCACGTCTGGGCGT 0.642 NA 7 114 0 0 0.001984 0 0 PTPRN 5798 broad.mit.edu 37 2 220162011 220162011 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:220162011A>G uc002vkz.2 - 14 2121 c.2032T>C c.(2032-2034)TGG>CGG p.W678R PTPRN_uc010zlc.1_Missense_Mutation_p.W588R|PTPRN_uc002vla.2_Missense_Mutation_p.W649R NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 678 Cytoplasmic (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TCCTCGCACCAGGACGGGGTG 0.657 NA 20 43 0 0 0.008871 0 0 GPR35 2859 broad.mit.edu 37 2 241569575 241569575 + Missense_Mutation SNP T T G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:241569575T>G uc002vzs.1 + 1 781 c.206T>G c.(205-207)CTG>CGG p.L69R GPR35_uc010fzh.1_Missense_Mutation_p.L100R|GPR35_uc010fzi.1_Missense_Mutation_p.L100R NM_005301 NP_005292 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 69 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity skin(2)|pancreas(1) 3 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GACCTCTGCCTGCTGTGCACC 0.632 NA 18 28 0 0 0.008871 0 0 SIRPD 128646 broad.mit.edu 37 20 1532359 1532360 + Missense_Mutation DNP CC CC AA rs141059543 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:1532359_1532360CC>AA uc002wfi.2 - 2 442_443 c.398_399GG>TT c.(397-399)CGG>CTT p.R133L NM_178460 NP_848555 Q9H106 SIRPD_HUMAN signal-regulatory protein delta precursor 133 Ig-like V-type. extracellular region ovary(1)|kidney(1)|skin(1) 3 CCTGAGTGCCCCGACCTGATTG 0.421 NA 16 34 0 0 0.004672 0 0 SIRPA 140885 broad.mit.edu 37 20 1895888 1895888 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:1895888G>T uc002wfq.2 + 3 583 c.223G>T c.(223-225)GGC>TGC p.G75C SIRPA_uc010zps.1_Missense_Mutation_p.G55C|SIRPA_uc002wfr.2_Missense_Mutation_p.G75C|SIRPA_uc002wfs.2_Missense_Mutation_p.G75C|SIRPA_uc002wft.2_Missense_Mutation_p.G75C NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 75 Ig-like V-type.|Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) AGCTGGACCAGGCCGGGAATT 0.537 GBM(155;1668 1920 5945 42733 48121) NA 4 64 2.56e-06 3.42349e-06 0.000248 1 0 SLC32A1 140679 broad.mit.edu 37 20 37356572 37356572 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:37356572C>A uc002xjc.2 + 2 1131 c.868C>A c.(868-870)CGC>AGC p.R290S NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 290 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) ATCGCGGGCGCGCGACTGGGC 0.532 NA 19 34 2.35188e-11 3.58635e-11 0.006122 1 0 SEMG2 6407 broad.mit.edu 37 20 43850431 43850431 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:43850431A>G uc010ggz.2 + 2 215 c.158A>G c.(157-159)GAC>GGC p.D53G SEMG2_uc002xnk.2_Missense_Mutation_p.D53G|SEMG2_uc002xnl.2_Missense_Mutation_p.D53G NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 53 sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) GGACAAAAAGACCAACAACAT 0.388 NA 16 37 0 0 0.003163 0 0 CDH22 64405 broad.mit.edu 37 20 44806656 44806656 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:44806656G>T uc002xrm.2 - 10 2245 c.1844C>A c.(1843-1845)GCC>GAC p.A615D CDH22_uc010ghk.1_Missense_Mutation_p.A615D NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 615 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CATGACAAAGGCCGTGGTGTT 0.652 NA 5 21 1.23904e-05 1.57568e-05 0.000602 1 0 KCNG1 3755 broad.mit.edu 37 20 49621081 49621081 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:49621081C>T uc002xwa.3 - 3 1332 c.1037G>A c.(1036-1038)CGG>CAG p.R346Q NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 346 Helical; Voltage-sensor; Name=Segment S4; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GCGCAGCGCCCGCAGCACGCG 0.736 NA 9 8 0 0 0.006214 0 0 ATP9A 10079 broad.mit.edu 37 20 50329578 50329578 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:50329578C>A uc002xwg.1 - 4 363 c.363G>T c.(361-363)GCG>GCT p.A121A ATP9A_uc010gih.1_Silent_p.A106A NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 121 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 TCTCCTCCACCGCCTCACGGA 0.627 NA 6 20 0.00116845 0.00135315 0.001168 1 0 CDH26 60437 broad.mit.edu 37 20 58569452 58569452 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:58569452C>T uc002ybe.2 + 11 1874 c.1574C>T c.(1573-1575)CCG>CTG p.P525L CDH26_uc002ybf.1_Missense_Mutation_p.P105L|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.P39L|CDH26_uc002ybh.2_5'Flank|CDH26_uc002ybi.2_5'Flank NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 525 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GCAGAGGATCCGGACCTGGAG 0.542 NA 3 32 0 0 0.004672 0 0 TIAM1 7074 broad.mit.edu 37 21 32493002 32493002 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr21:32493002T>C uc002yow.1 - 29 4932 c.4460A>G c.(4459-4461)CAG>CGG p.Q1487R TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.Q1427R NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1487 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 AAGATCAAACTGCTCCTCTAC 0.547 NA 17 26 0 0 0.00499 0 0 MX1 4599 broad.mit.edu 37 21 42807878 42807878 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr21:42807878G>A uc002yzh.2 + 8 1167 c.220G>A c.(220-222)GCC>ACC p.A74T MX1_uc002yzi.2_Missense_Mutation_p.A74T|MX1_uc010goq.2_Missense_Mutation_p.A74T NM_001144925 NP_001138397 P20591 MX1_HUMAN myxovirus resistance protein 1 74 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GCCAGCCATCGCCGTCATCGG 0.602 NA 5 60 0 0 0.000602 0 0 PRODH 5625 broad.mit.edu 37 22 18918540 18918540 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:18918540C>A uc010grl.2 - 2 459 c.445G>T c.(445-447)GAC>TAC p.D149Y PRODH_uc002zoj.3_Missense_Mutation_p.D39Y|PRODH_uc002zol.3_Missense_Mutation_p.D39Y|PRODH_uc002zok.3_Missense_Mutation_p.D149Y NM_016335 NP_057419 O43272 PROD_HUMAN proline dehydrogenase 1 149 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1) 1 L-Proline(DB00172) GGGCTCAGGTCCTCCTCCACT 0.627 NA 20 45 1.9806e-07 2.7355e-07 0.002299 1 0 ZNRF3 84133 broad.mit.edu 37 22 29445929 29445929 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:29445929G>T uc003aeg.2 + 8 1625 c.1460G>T c.(1459-1461)CGC>CTC p.R487L ZNRF3_uc003aeh.1_Missense_Mutation_p.R487L NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 587 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 TCCACCTTCCGCAGCTCCCTC 0.637 NA 24 92 2.21704e-12 3.42725e-12 0.00278 1 0 APOL5 80831 broad.mit.edu 37 22 36122751 36122751 + Silent SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:36122751T>C uc003aof.2 + 3 636 c.636T>C c.(634-636)CAT>CAC p.H212H NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 212 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 CAACATCACATGAGGCTTTCG 0.448 NA 39 116 0 0 0.005524 0 0 EIF3D 8664 broad.mit.edu 37 22 36912753 36912753 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:36912753G>A uc003apq.2 - 11 1191 c.1075C>T c.(1075-1077)CGT>TGT p.R359C EIF3D_uc011amr.1_Missense_Mutation_p.R186C|EIF3D_uc003apr.2_Missense_Mutation_p.R359C|EIF3D_uc011ams.1_Missense_Mutation_p.R262C|EIF3D_uc011amt.1_Missense_Mutation_p.R310C NM_003753 NP_003744 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3 359 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity pancreas(1) 1 GTGACCTACCGGTACGCAACA 0.502 NA 8 132 0 0 0.00308 0 0 SCUBE1 80274 broad.mit.edu 37 22 43614412 43614412 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:43614412G>T uc003bdt.1 - 15 1828 c.1740C>A c.(1738-1740)GCC>GCA p.A580A NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 580 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) TCTTGATGGCGGCCTGCAGGC 0.612 NA 63 74 6.8682e-38 1.19927e-37 0.00361 1 0 SCUBE1 80274 broad.mit.edu 37 22 43616542 43616542 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:43616542C>A uc003bdt.1 - 14 1689 c.1601G>T c.(1600-1602)AGG>ATG p.R534M NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 534 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) GCCACGGCGCCTCTTCTTGGA 0.582 NA 12 58 0.00010058 0.000121926 0.001368 1 0 SHANK3 85358 broad.mit.edu 37 22 51160827 51160827 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:51160827G>T uc003bne.1 + 22 4614 c.4614G>T c.(4612-4614)CTG>CTT p.L1538L SHANK3_uc003bnf.1_Silent_p.L985L|SHANK3_uc010hbg.1_Silent_p.L720L NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1538 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TGGGCAGCCTGCTGGACCCTG 0.642 NA 12 24 3.07112e-06 4.07467e-06 0.000978 1 0 IL17RC 84818 broad.mit.edu 37 3 9975223 9975223 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:9975223G>T uc003bua.2 + 19 2558 c.2322G>T c.(2320-2322)GCG>GCT p.A774A CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Silent_p.A703A|IL17RC_uc011atp.1_Silent_p.A529A|IL17RC_uc003bud.2_Silent_p.A244A|IL17RC_uc003bub.2_Silent_p.A688A|IL17RC_uc010hct.2_Silent_p.A690A|IL17RC_uc010hcu.2_Silent_p.A673A|IL17RC_uc010hcv.2_Silent_p.A671A|IL17RC_uc011atq.1_3'UTR|IL17RC_uc003buc.2_Silent_p.A231A|IL17RC_uc003bue.2_Silent_p.A326A|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 774 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 GGACTCCCGCGCCGGGACGCG 0.687 NA 7 8 0.00198382 0.00226626 0.001984 1 0 CAND2 23066 broad.mit.edu 37 3 12856747 12856747 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:12856747G>C uc003bxk.2 + 8 1163 c.1114G>C c.(1114-1116)GAT>CAT p.D372H CAND2_uc003bxj.2_Missense_Mutation_p.D279H NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 372 HEAT 9. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 CCTGCTGCCCGATTTCCACTG 0.602 GBM(43;676 868 1633 6395 37496) NA 6 53 0 0 0.001168 0 0 SCN11A 11280 broad.mit.edu 37 3 38938351 38938351 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:38938351C>A uc011ays.1 - 14 2587 c.2388G>T c.(2386-2388)GTG>GTT p.V796V SCN11A_uc010hhn.1_5'Flank NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 796 II.|Helical; Name=S6 of repeat II; (By similarity). response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTTTTCCTATCACCGTGATCA 0.353 NA 12 15 0.00136819 0.00157905 0.001368 1 0 ROBO2 6092 broad.mit.edu 37 3 77607285 77607285 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:77607285G>T uc003dpy.3 + 9 2065 c.1422G>T c.(1420-1422)CAG>CAT p.Q474H ROBO2_uc003dpz.2_Missense_Mutation_p.Q478H|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.Q478H NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 474 Ig-like C2-type 5.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GCACACTGCAGATTAAGAATT 0.378 NA 7 37 5.18039e-06 6.84624e-06 0.00308 1 0 GPR156 165829 broad.mit.edu 37 3 119886746 119886746 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:119886746C>A uc011bjf.1 - 9 1578 c.1578G>T c.(1576-1578)AGG>AGT p.R526S GPR156_uc011bjg.1_Missense_Mutation_p.R522S NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 526 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) TCTCCAGATGCCTCTGTCTCT 0.577 NA 55 110 5.47352e-35 9.50813e-35 0.00361 1 0 CHCHD6 84303 broad.mit.edu 37 3 126423156 126423156 + Missense_Mutation SNP A A C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:126423156A>C uc003ejf.1 + 1 39 c.1A>C c.(1-3)ATG>CTG p.M1L CHCHD6_uc010hsj.1_Missense_Mutation_p.M1L NM_032343 NP_115719 Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain 1 0 GCATCTCGCCATGGGGAGCAC 0.522 NA 4 12 0 0 0.000248 0 0 ABTB1 80325 broad.mit.edu 37 3 127395174 127395174 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:127395174G>A uc003ejt.2 + 5 468 c.380G>A c.(379-381)CGG>CAG p.R127Q ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.R102Q|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank NM_172027 NP_742024 Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 127 BTB 1. cytoplasm|nucleolus|plasma membrane translation elongation factor activity 0 AAGCCATTCCGGGTGCATCGC 0.582 NA 23 91 0 0 0.00333 0 0 SI 6476 broad.mit.edu 37 3 164732923 164732923 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:164732923A>G uc003fei.2 - 33 4049 c.3987T>C c.(3985-3987)ATT>ATC p.I1329I NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1329 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGCCCAACAAATGTCATTGG 0.318 NA HNSCC(35;0.089) 12 16 0 0 0.00245 0 0 BCL6 604 broad.mit.edu 37 3 187449674 187449674 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:187449674A>G uc003frp.3 - 4 663 c.206T>C c.(205-207)CTT>CCT p.L69P BCL6_uc011bsf.1_Missense_Mutation_p.L69P|BCL6_uc010hza.2_Intron|BCL6_uc003frq.1_Missense_Mutation_p.L69P NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 69 BTB. negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) GATCACACTAAGGTTGCATTT 0.438 NA T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL 3 24 0 0 0.004672 0 0 ATP13A5 344905 broad.mit.edu 37 3 193082037 193082037 + Silent SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:193082037C>G uc011bsq.1 - 2 96 c.96G>C c.(94-96)CGG>CGC p.R32R NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 32 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AGAAGGCTTTCCGTACATTGT 0.463 NA 28 113 0 0 0.008361 0 0 SLC2A9 56606 broad.mit.edu 37 4 9982247 9982247 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:9982247T>A uc003gmc.2 - 5 711 c.650A>T c.(649-651)CAG>CTG p.Q217L SLC2A9_uc003gmd.2_Missense_Mutation_p.Q188L NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 217 Helical; Name=5; (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 GCCCAGAAGCTGCCCAGTGAA 0.567 NA 21 28 0 0 0.002299 0 0 RFC1 5981 broad.mit.edu 37 4 39291518 39291518 + Nonsense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:39291518G>A uc003gty.1 - 24 3447 c.3313C>T c.(3313-3315)CAA>TAA p.Q1105* RFC1_uc003gtx.1_Nonsense_Mutation_p.Q1104* NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 1105 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 TCATCAGATTGAGAGTCATCT 0.398 Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157) NA 20 89 0 0 0.007413 0 0 GABRA4 2557 broad.mit.edu 37 4 46930594 46930594 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:46930594C>T uc003gxg.2 - 9 1452 c.1313G>A c.(1312-1314)CGT>CAT p.R438H NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 438 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGCATTTGCACGGCTGAATGG 0.463 Ovarian(6;283 369 8234 12290 33402) NA 5 69 0 0 0.001168 0 0 SRP72 6731 broad.mit.edu 37 4 57344766 57344766 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:57344766A>T uc003hbv.2 + 8 816 c.776A>T c.(775-777)GAT>GTT p.D259V SRP72_uc010ihe.2_Intron|SRP72_uc003hbw.1_Missense_Mutation_p.D64V NM_006947 NP_008878 O76094 SRP72_HUMAN signal recognition particle 72kDa 259 TPR 3. response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding ovary(1) 1 Glioma(25;0.08)|all_neural(26;0.101) AGACCAACAGATGTGGGATTA 0.348 NA 15 26 0 0 0.003163 0 0 STAP1 26228 broad.mit.edu 37 4 68436850 68436850 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:68436850T>A uc003hde.3 + 2 251 c.169T>A c.(169-171)TAT>AAT p.Y57N STAP1_uc003hdf.2_Missense_Mutation_p.Y57N NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 57 PH. cellular membrane fusion|intracellular protein transport cytoplasm 0 TCTTTTCTTTTATACCGACAA 0.313 NA 38 107 0 0 0.003214 0 0 HNRPDL 9987 broad.mit.edu 37 4 83350667 83350667 + Silent SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:83350667G>C uc003hmr.2 - 1 712 c.177C>G c.(175-177)CGC>CGG p.R59R ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Silent_p.R59R NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 59 regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) CGGTGACGTGGCGCTGGGCCC 0.647 NA 3 3 0 0 0.004672 0 0 UNC5C 8633 broad.mit.edu 37 4 96163625 96163625 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:96163625G>T uc003htp.1 - 7 1217 c.1063C>A c.(1063-1065)CTC>ATC p.L355I UNC5C_uc010ilc.1_Missense_Mutation_p.L355I|UNC5C_uc003htq.2_Missense_Mutation_p.L355I NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 355 Extracellular (Potential).|TSP type-1 2. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGCAAGACGAGGCCGTCGCAG 0.542 NA 8 15 1.06961e-07 1.4895e-07 0.00308 1 0 CENPE 1062 broad.mit.edu 37 4 104116363 104116363 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:104116363C>A uc003hxb.1 - 5 475 c.385G>T c.(385-387)GTA>TTA p.V129L CENPE_uc003hxc.1_Missense_Mutation_p.V129L NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 129 Kinesin-motor. 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) ATGTAAGATACACGTAAGAGA 0.318 NA 10 14 2.17888e-05 2.72967e-05 0.006214 1 0 TBCK 93627 broad.mit.edu 37 4 107168317 107168317 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:107168317C>A uc010ilv.2 - 10 1275 c.910G>T c.(910-912)GAT>TAT p.D304Y TBCK_uc003hyb.2_Missense_Mutation_p.D47Y|TBCK_uc003hye.2_Missense_Mutation_p.D265Y|TBCK_uc003hyc.2_Missense_Mutation_p.D241Y|TBCK_uc003hyd.2_Missense_Mutation_p.D132Y|TBCK_uc003hyf.2_Missense_Mutation_p.D304Y NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 304 intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 TGACTGATATCCTCAGGCAGA 0.358 NA 7 27 0.00198382 0.00226626 0.001984 1 0 SORBS2 8470 broad.mit.edu 37 4 186544274 186544274 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:186544274G>A uc003iyl.2 - 13 3155 c.2297C>T c.(2296-2298)CCA>CTA p.P766L SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.P866L|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.P670L|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.P880L|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 766 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GGGAACATCTGGCAGCAGCTC 0.557 Esophageal Squamous(153;41 2433 9491 36028) NA 9 167 0 0 0.006214 0 0 FAT1 2195 broad.mit.edu 37 4 187524999 187524999 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:187524999C>A uc003izf.2 - 19 10869 c.10681G>T c.(10681-10683)GGT>TGT p.G3561C NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3561 Extracellular (Potential).|Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ATGACGCCACCTGAGTATTCT 0.473 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 12 32 5.50884e-06 7.19565e-06 0.001368 1 0 CDH18 1016 broad.mit.edu 37 5 19473781 19473781 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:19473781G>A uc003jgc.2 - 12 2304 c.1927C>T c.(1927-1929)CCC>TCC p.P643S CDH18_uc003jgd.2_Missense_Mutation_p.P643S|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 643 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) ATGATCAAGGGCTCTTTTTTG 0.443 NA 15 226 0 0 0.003163 0 0 CDH12 1010 broad.mit.edu 37 5 21751882 21751882 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:21751882G>A uc010iuc.2 - 12 2807 c.2349C>T c.(2347-2349)GGC>GGT p.G783G CDH12_uc011cno.1_Silent_p.G743G|CDH12_uc003jgk.2_Silent_p.G783G|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 783 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TCTCTTCTTCGCCAAACATGT 0.448 NA HNSCC(59;0.17) 6 84 0 0 0.001984 0 0 OXCT1 5019 broad.mit.edu 37 5 41739555 41739555 + Silent SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:41739555C>G uc003jmn.2 - 16 1789 c.1458G>C c.(1456-1458)CTG>CTC p.L486L OXCT1_uc011cpo.1_Silent_p.L89L|OXCT1_uc011cpp.1_Silent_p.L89L NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 486 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) AGAGCTCAATCAGAGTCAACC 0.413 NA 3 81 0 0 0.004672 0 0 MGC42105 167359 broad.mit.edu 37 5 43280133 43280133 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:43280133A>G uc003jno.2 + 4 1494 c.613A>G c.(613-615)ACC>GCC p.T205A NM_153361 NP_699192 Q8IY84 NIM1_HUMAN serine/threonine-protein kinase NIM1 205 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1) 9 TGTATTCTATACCAGTAATAC 0.378 NA 17 42 0 0 0.00499 0 0 HCN1 348980 broad.mit.edu 37 5 45645551 45645551 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:45645551C>A uc003jok.2 - 2 610 c.585G>T c.(583-585)AGG>AGT p.R195S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 195 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CAGTCCCAGTCCTAAAATTCA 0.373 NA 15 33 1.49906e-05 1.89207e-05 0.00245 1 0 ENC1 8507 broad.mit.edu 37 5 73931234 73931234 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:73931234C>A uc003kdc.3 - 2 2208 c.1077G>T c.(1075-1077)TGG>TGT p.W359C ENC1_uc011css.1_Missense_Mutation_p.W286C NM_003633 NP_003624 O14682 ENC1_HUMAN ectodermal-neural cortex (with BTB-like domain) 359 Kelch 2. nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding ovary(1)|pancreas(1)|skin(1) 3 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) TATCATAAACCCAGACATCTT 0.542 NA 40 68 2.52637e-11 3.83508e-11 0.005524 1 0 CMYA5 202333 broad.mit.edu 37 5 79025142 79025142 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:79025142A>G uc003kgc.2 + 2 626 c.554A>G c.(553-555)TAT>TGT p.Y185C NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 185 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAGAAGTCATATACTGGCATT 0.368 NA 12 26 0 0 0.000978 0 0 FBN2 2201 broad.mit.edu 37 5 127666351 127666351 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:127666351C>A uc003kuu.2 - 33 4698 c.4259G>T c.(4258-4260)AGC>ATC p.S1420I FBN2_uc003kuv.2_Missense_Mutation_p.S1387I NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1420 EGF-like 23; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGCATTGATGCTACACTGGTG 0.468 NA 5 33 0.000602214 0.000709602 0.000602 1 0 PCDHB16 57717 broad.mit.edu 37 5 140563531 140563531 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:140563531C>A uc003liv.2 + 1 2552 c.1397C>A c.(1396-1398)CCC>CAC p.P466H PCDHB16_uc010jfw.1_Missense_Mutation_p.P138H NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 466 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACAACAGCCCCGCCCTGCAC 0.607 NA 17 178 1.99824e-07 2.74859e-07 0.00499 1 0 PPP2R2B 5521 broad.mit.edu 37 5 146070757 146070757 + Silent SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:146070757T>A uc003loe.2 - 4 906 c.381A>T c.(379-381)CCA>CCT p.P127P PPP2R2B_uc010jgm.2_Silent_p.P116P|PPP2R2B_uc003log.3_Silent_p.P127P|PPP2R2B_uc003lof.3_Silent_p.P127P|PPP2R2B_uc003loi.3_Silent_p.P130P|PPP2R2B_uc003loh.3_Silent_p.P127P|PPP2R2B_uc003loj.3_Silent_p.P107P|PPP2R2B_uc003lok.3_Silent_p.P116P|PPP2R2B_uc011dbu.1_Silent_p.P133P|PPP2R2B_uc011dbv.1_Silent_p.P185P NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 127 WD 2. apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTAGCCTTCTGGCCTCTTAT 0.517 NA 31 58 0 0 0.002836 0 0 FAM71B 153745 broad.mit.edu 37 5 156589500 156589500 + Silent SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:156589500G>C uc003lwn.2 - 2 1876 c.1776C>G c.(1774-1776)TCC>TCG p.S592S NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 592 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCGTCTTCTCGGATGTCATAG 0.512 NA 78 187 0 0 0.00361 0 0 GABRG2 2566 broad.mit.edu 37 5 161576310 161576310 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:161576310G>T uc003lyz.3 + 8 1477 c.1119G>T c.(1117-1119)AAG>AAT p.K373N GABRG2_uc010jjc.2_Missense_Mutation_p.K413N|GABRG2_uc003lyy.3_Missense_Mutation_p.K373N|GABRG2_uc011dej.1_Missense_Mutation_p.K278N NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 373 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ATAAAAAGAAGAAAAACCCTG 0.388 NA 6 39 4.096e-09 6.00153e-09 0.001168 1 0 ODZ2 57451 broad.mit.edu 37 5 167589629 167589629 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:167589629C>A uc010jjd.2 + 13 2409 c.2409C>A c.(2407-2409)GAC>GAA p.D803E ODZ2_uc003lzr.3_Missense_Mutation_p.D580E|ODZ2_uc003lzt.3_Missense_Mutation_p.D176E|ODZ2_uc010jje.2_Missense_Mutation_p.D74E|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GCTGCCCTGACTTGTGCAACG 0.617 NA 12 23 5.50884e-06 7.19565e-06 0.001368 1 0 TRIM52 84851 broad.mit.edu 37 5 180687006 180687006 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:180687006T>C uc003mnp.2 - 1 1114 c.809A>G c.(808-810)TAC>TGC p.Y270C uc003mnq.2_5'Flank NM_032765 NP_116154 Q96A61 TRI52_HUMAN tripartite motif-containing 52 270 intracellular zinc ion binding 0 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.232) TCTCACCTGGTACTCCTGCAC 0.542 NA 56 157 0 0 0.00361 0 0 SYCP2L 221711 broad.mit.edu 37 6 10911057 10911057 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:10911057G>T uc003mzo.2 + 12 1169 c.873G>T c.(871-873)AGG>AGT p.R291S SYCP2L_uc011din.1_Missense_Mutation_p.R132S|SYCP2L_uc010jow.2_Intron NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 291 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TATTTTGCAGGGTGTATTCAT 0.408 NA 24 90 6.44725e-10 9.52949e-10 0.002299 1 0 HIVEP1 3096 broad.mit.edu 37 6 12161872 12161872 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:12161872G>A uc003nac.2 + 8 6867 c.6688G>A c.(6688-6690)GAG>AAG p.E2230K HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2230 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GAGTACTGACGAGGATGTCAG 0.572 NA 14 15 0 0 0.001855 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169149 32169149 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:32169149G>A uc003obb.2 - 22 4023 c.3884C>T c.(3883-3885)CCC>CTC p.P1295L NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1295 Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GGCCAGGGAGGGCCCCCACTC 0.642 NA 13 28 0 0 0.001368 0 0 DST 667 broad.mit.edu 37 6 56501375 56501375 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:56501375C>T uc003pdf.2 - 22 2969 c.2941G>A c.(2941-2943)GAG>AAG p.E981K DST_uc003pcz.3_Missense_Mutation_p.E803K|DST_uc011dxj.1_Missense_Mutation_p.E832K|DST_uc011dxk.1_Missense_Mutation_p.E843K|DST_uc003pcy.3_Missense_Mutation_p.E477K|DST_uc003pdb.2_Missense_Mutation_p.E477K|DST_uc003pdc.3_Missense_Mutation_p.E477K|DST_uc003pdd.3_Missense_Mutation_p.E477K NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 803 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCTGTGTTCTCCTTTATGTGC 0.418 NA 5 93 0 0 0.000602 0 0 COL9A1 1297 broad.mit.edu 37 6 70942411 70942411 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:70942411C>A uc003pfg.3 - 36 2537 c.2378G>T c.(2377-2379)GGA>GTA p.G793V COL9A1_uc003pfe.3_Missense_Mutation_p.G342V|COL9A1_uc003pff.3_Missense_Mutation_p.G550V NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 793 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 GCCAGGCCTTCCAGGAAGCCC 0.567 NA 9 30 0.000274275 0.000328935 0.004482 1 0 EEF1A1 1915 broad.mit.edu 37 6 74228319 74228319 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:74228319G>A uc003phi.2 - 5 824 c.787C>T c.(787-789)CCT>TCT p.P263S EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.P253S|EEF1A1_uc003phf.2_Missense_Mutation_p.P263S|EEF1A1_uc003phg.2_Missense_Mutation_p.P263S|EEF1A1_uc003phh.2_Missense_Mutation_p.P109S|EEF1A1_uc003phj.2_Missense_Mutation_p.P263S|EEF1A1_uc003phk.2_Missense_Mutation_p.P263S|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 263 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 CGGCCAACAGGAACAGTACCA 0.413 NA OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 47 0 0 0.00308 0 0 PHIP 55023 broad.mit.edu 37 6 79735767 79735767 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:79735767T>C uc003pir.2 - 8 941 c.715A>G c.(715-717)ATG>GTG p.M239V PHIP_uc011dyp.1_Missense_Mutation_p.M239V NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 239 WD 2. insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) GCTGCTATCATGGTATTCTCA 0.433 NA 21 43 0 0 0.001523 0 0 ZNF292 23036 broad.mit.edu 37 6 87965604 87965604 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:87965604A>G uc003plm.3 + 8 2298 c.2257A>G c.(2257-2259)ATA>GTA p.I753V NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 753 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ATATATCTGTATACAGATGAA 0.378 NA 8 20 0 0 0.00308 0 0 MED23 9439 broad.mit.edu 37 6 131924232 131924232 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:131924232G>A uc003qcs.1 - 16 2043 c.1869C>T c.(1867-1869)CTC>CTT p.L623L MED23_uc003qcq.2_Silent_p.L629L|MED23_uc011eca.1_Silent_p.L264L|MED23_uc003qct.1_Silent_p.L629L|MED23_uc011ecb.1_RNA NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 623 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GATGACTCAGGAGCTGAACTC 0.423 NA 18 40 0 0 0.007413 0 0 UNC93A 54346 broad.mit.edu 37 6 167721398 167721399 + Splice_Site DNP GG GG TT TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:167721398_167721399GG>TT uc003qvq.2 + 7 1283 c.1108_splice c.e7+1 p.A370_splice UNC93A_uc003qvr.2_Splice_Site_p.A328_splice NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ACAAAACAATGGTGAGTCCCCA 0.609 NA 11 28 0 0 0.004672 0 0 ITGB8 3696 broad.mit.edu 37 7 20441744 20441744 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:20441744G>T uc003suu.2 + 10 2387 c.1682G>T c.(1681-1683)TGT>TTT p.C561F ITGB8_uc011jyh.1_Missense_Mutation_p.C426F NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 561 III.|Cysteine-rich tandem repeats.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 GGAAATCTGTGTGCTGGTGAG 0.333 NA 17 32 9.16793e-09 1.32034e-08 0.00499 1 0 HOXA10 3206 broad.mit.edu 37 7 27213368 27213368 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:27213368G>T uc011jzm.1 - 1 588 c.558C>A c.(556-558)GCC>GCA p.A186A HOXA10_uc003syw.3_Intron NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 186 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GAGCCAGTTCGGCGGCGGTGG 0.672 NA 6 12 0.00116845 0.00135315 0.001168 1 0 AMPH 273 broad.mit.edu 37 7 38500890 38500890 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:38500890G>T uc003tgu.2 - 11 1079 c.1010C>A c.(1009-1011)CCT>CAT p.P337H AMPH_uc003tgv.2_Missense_Mutation_p.P337H|AMPH_uc003tgt.2_Missense_Mutation_p.P90H NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 337 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 TACCTGGGAAGGTGTTGTCAC 0.502 NA 51 91 1.32667e-27 2.25802e-27 0.00361 1 0 C7orf10 79783 broad.mit.edu 37 7 40277289 40277289 + Silent SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:40277289G>C uc003thn.1 + 7 585 c.540G>C c.(538-540)TCG>TCC p.S180S C7orf10_uc003thm.1_Silent_p.S150S|C7orf10_uc003tho.1_Silent_p.S180S NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 187 transferase activity ovary(2) 2 CTGTTGCCTCGGCTGTTTCTG 0.428 NA 18 50 0 0 0.007413 0 0 TNS3 64759 broad.mit.edu 37 7 47436483 47436483 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:47436483T>C uc003tnv.2 - 16 1305 c.938A>G c.(937-939)AAC>AGC p.N313S TNS3_uc003tnw.2_Missense_Mutation_p.N313S NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 313 focal adhesion protein binding ovary(4) 4 ACCGTGGTCGTTGTACAAGTG 0.527 NA 6 85 0 0 0.001168 0 0 POM121L12 285877 broad.mit.edu 37 7 53103448 53103449 + Missense_Mutation DNP CC CC AA TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:53103448_53103449CC>AA uc003tpz.2 + 1 100_101 c.84_85CC>AA c.(82-87)GCCCTG>GCAATG p.L29M NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 29 0 GCCCCGACGCCCTGGCGGCTCC 0.703 NA 12 27 0 0 0.004672 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628952 84628952 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:84628952T>C uc003uic.2 - 17 2178 c.2138A>G c.(2137-2139)TAC>TGC p.Y713C SEMA3D_uc010led.2_Missense_Mutation_p.Y713C|SEMA3D_uc003uib.2_Missense_Mutation_p.Y352C NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 713 cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 GTAGTCTTTGTATCTCAACCG 0.488 Ovarian(63;442 1191 17318 29975 31528) NA 18 44 0 0 0.006122 0 0 MUC17 140453 broad.mit.edu 37 7 100679577 100679577 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:100679577G>T uc003uxp.1 + 3 4933 c.4880G>T c.(4879-4881)AGT>ATT p.S1627I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1627 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCAACTCCTAGTGAAGGAAGT 0.493 NA 71 244 2.36135e-34 4.0809e-34 0.00361 1 0 LAMB4 22798 broad.mit.edu 37 7 107708521 107708521 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:107708521C>G uc010ljo.1 - 19 2470 c.2386G>C c.(2386-2388)GGG>CGG p.G796R LAMB4_uc003vey.2_Missense_Mutation_p.G796R NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 796 Laminin EGF-like 6. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 CAGCAGCGCCCGACCACAAGA 0.567 NA 7 174 0 0 0.001984 0 0 TMEM168 64418 broad.mit.edu 37 7 112407566 112407566 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:112407566C>G uc003vgn.2 - 5 2172 c.1780G>C c.(1780-1782)GAA>CAA p.E594Q TMEM168_uc010lju.2_Missense_Mutation_p.E594Q|TMEM168_uc011kmr.1_Missense_Mutation_p.E210Q NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 594 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 CAGTTATATTCTACCCAGTCT 0.433 NA 13 29 0 0 0.00245 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192477 132192477 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:132192477G>C uc003vra.3 - 2 1205 c.976C>G c.(976-978)CTT>GTT p.L326V PLXNA4_uc003vrc.2_Missense_Mutation_p.L326V|PLXNA4_uc003vrb.2_Missense_Mutation_p.L326V NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 326 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 TGGACTCCAAGGGTCCTGCCA 0.587 NA 17 27 0 0 0.007413 0 0 EPHB6 2051 broad.mit.edu 37 7 142561001 142561001 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:142561001G>T uc011kst.1 + 5 803 c.16G>T c.(16-18)GCT>TCT p.A6S EPHB6_uc011ksu.1_Missense_Mutation_p.A6S|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 6 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) TACTGAAGGGGCTGCCCAGTT 0.607 NA 4 24 0.00024832 0.000298871 0.000248 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146825897 146825897 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:146825897C>A uc003weu.1 + 7 1568 c.1052C>A c.(1051-1053)GCC>GAC p.A351D NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 351 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACTGATCTTGCCAGAAGGAAG 0.393 NA HNSCC(39;0.1) 20 73 2.89027e-11 4.3678e-11 0.002299 1 0 MLL3 58508 broad.mit.edu 37 7 151970862 151970862 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:151970862C>A uc003wla.2 - 7 1159 c.940G>T c.(940-942)GCC>TCC p.A314S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 314 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AAGGTGCCGGCTCCTGCAGCA 0.438 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 6 153 3.59834e-05 4.47468e-05 0.001168 1 0 RAB11FIP1 80223 broad.mit.edu 37 8 37756794 37756794 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:37756794C>A uc003xkm.1 - 1 210 c.166G>T c.(166-168)GTG>TTG p.V56L RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.V56L NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 56 C2. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CGCTCCGACACGGAGGTGGCG 0.751 NA 9 27 0.00448238 0.00505205 0.004482 1 0 SLCO5A1 81796 broad.mit.edu 37 8 70744733 70744733 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:70744733G>T uc003xyl.2 - 2 883 c.176C>A c.(175-177)CCG>CAG p.P59Q SLCO5A1_uc010lzb.2_Missense_Mutation_p.P59Q|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.P59Q|SLCO5A1_uc010lzc.2_Missense_Mutation_p.P59Q NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 59 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GCCAAAGGCCGGGTTGGCGTC 0.657 NA OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 46 9.31168e-06 1.2116e-05 0.001855 1 0 KCNB2 9312 broad.mit.edu 37 8 73849655 73849655 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:73849655A>T uc003xzb.2 + 3 2653 c.2065A>T c.(2065-2067)AGT>TGT p.S689C NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 689 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TGGGCTACATAGTCCTTTGCA 0.512 NA 25 48 0 0 0.003954 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776363 77776363 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:77776363C>A uc003yav.2 + 11 10665 c.10278C>A c.(10276-10278)CAC>CAA p.H3426Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3422 C2H2-type 20. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAGCTTGCACAAAGAGAAAA 0.448 NA HNSCC(33;0.089) 18 39 5.01169e-05 6.16402e-05 0.00499 1 0 LRRCC1 85444 broad.mit.edu 37 8 86025216 86025216 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:86025216A>G uc003ycw.2 + 4 580 c.426A>G c.(424-426)CTA>CTG p.L142L LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_5'UTR|LRRCC1_uc003ycx.2_Silent_p.L49L|LRRCC1_uc003ycy.2_Silent_p.L122L NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 142 LRR 5. cell division|mitosis centriole|nucleus 0 ATATTGATCTACATAGTAATC 0.343 NA 20 24 0 0 0.002299 0 0 RAD54B 25788 broad.mit.edu 37 8 95392404 95392404 + Missense_Mutation SNP T T G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:95392404T>G uc003ygk.2 - 12 2314 c.2216A>C c.(2215-2217)GAC>GCC p.D739A RAD54B_uc010may.1_Missense_Mutation_p.D546A NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) CCAATCAATGTCATAGAGAAT 0.249 NA Direct_reversal_of_damage|Homologous_recombination 17 26 0 0 0.004007 0 0 PTDSS1 9791 broad.mit.edu 37 8 97296350 97296350 + Silent SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:97296350A>T uc003yht.1 + 3 387 c.285A>T c.(283-285)CGA>CGT p.R95R PTDSS1_uc003yhu.1_Intron NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 95 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CGTTCACTCGACCTCATCCAG 0.353 NA 4 67 0 0 0.000248 0 0 POP1 10940 broad.mit.edu 37 8 99142321 99142321 + Nonsense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:99142321G>A uc003yij.3 + 5 702 c.602G>A c.(601-603)TGG>TAG p.W201* POP1_uc011lgv.1_Nonsense_Mutation_p.W201*|POP1_uc003yik.2_Nonsense_Mutation_p.W201* NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 201 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) AAGAACATTTGGTTAGAAACT 0.448 NA 24 31 0 0 0.00278 0 0 VPS13B 157680 broad.mit.edu 37 8 100829872 100829872 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:100829872G>A uc003yiv.2 + 45 8388 c.8277G>A c.(8275-8277)CGG>CGA p.R2759R VPS13B_uc003yiw.2_Silent_p.R2734R NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2759 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTGTAGTTCGGGAACATTTTG 0.423 Colon(161;2205 2542 7338 31318) NA 22 44 0 0 0.002299 0 0 HAS2 3037 broad.mit.edu 37 8 122641356 122641356 + Silent SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:122641356T>C uc003yph.2 - 2 763 c.225A>G c.(223-225)CTA>CTG p.L75L NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 75 Cytoplasmic (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TGGGGGTTTCTAGGGATTTTT 0.413 NA 34 184 0 0 0.002836 0 0 CYP11B1 1584 broad.mit.edu 37 8 143957227 143957227 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:143957227C>A uc003yxi.2 - 6 1029 c.1022G>T c.(1021-1023)CGC>CTC p.R341L CYP11B1_uc010mex.2_Missense_Mutation_p.R17L|CYP11B1_uc003yxh.2_Missense_Mutation_p.R57L|CYP11B1_uc003yxj.2_Missense_Mutation_p.R341L|CYP11B1_uc010mey.2_Missense_Mutation_p.R412L NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 341 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GCTCTCCTGGCGCAGGGCCTG 0.642 NA Familial_Hyperaldosteronism_type_I 52 108 7.47603e-22 1.23501e-21 0.00361 1 0 APBA1 320 broad.mit.edu 37 9 72055918 72055918 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:72055918A>G uc004ahh.2 - 11 2571 c.2295T>C c.(2293-2295)AAT>AAC p.N765N NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 765 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 TTACAATTCCATTCTGGACGC 0.403 NA 8 63 0 0 0.008291 0 0 RPSAP9 653162 broad.mit.edu 37 9 79013852 79013852 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:79013852A>G uc011lsj.1 + 1 338 c.238A>G c.(238-240)AGG>GGG p.R80G NR_026890 SubName: Full=Laminin receptor-like protein LAMRL5; 0 TATATCCTCCAGGAATACTGG 0.498 NA 6 25 0 0 0.001168 0 0 PRUNE2 158471 broad.mit.edu 37 9 79267540 79267540 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:79267540G>C uc010mpk.2 - 11 8540 c.8416C>G c.(8416-8418)CCA>GCA p.P2806A PRUNE2_uc011lsk.1_Missense_Mutation_p.P55A|PRUNE2_uc011lsl.1_Missense_Mutation_p.P70A|PRUNE2_uc011lsm.1_Missense_Mutation_p.P70A|PRUNE2_uc004akj.3_Missense_Mutation_p.P259A|PRUNE2_uc010mpl.1_Missense_Mutation_p.P259A NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2806 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TTGATATTTGGGGCTGTGAGC 0.393 NA 57 73 0 0 0.00361 0 0 TBC1D2 55357 broad.mit.edu 37 9 101014106 101014106 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:101014106C>A uc011lvb.1 - 2 652 c.472G>T c.(472-474)GCC>TCC p.A158S TBC1D2_uc004ayq.2_Missense_Mutation_p.A158S|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.A158S NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 158 Interaction with CADH1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CCAGCCAGGGCGGCATCAGGG 0.637 NA 7 55 0.00198382 0.00226626 0.001984 1 0 HSPA5 3309 broad.mit.edu 37 9 128000949 128000949 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:128000949G>C uc004bpn.2 - 6 1410 c.1154C>G c.(1153-1155)TCC>TGC p.S385C NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 385 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) TATGCCACGGGATGGTTCCTT 0.463 NA Prostate(1;0.17) 26 17 0 0 0.003954 0 0 AIF1L 83543 broad.mit.edu 37 9 133986984 133986984 + Nonsense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:133986984G>T uc004cab.1 + 3 199 c.94G>T c.(94-96)GAG>TAG p.E32* AIF1L_uc004cad.1_Nonsense_Mutation_p.E58*|AIF1L_uc004cae.1_Nonsense_Mutation_p.E32*|AIF1L_uc004cac.1_RNA|AIF1L_uc011mce.1_Nonsense_Mutation_p.E37* NM_031426 NP_113614 Q9BQI0 AIF1L_HUMAN ionized calcium binding adapter molecule 2 32 actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane actin filament binding|calcium ion binding 0 ACCTCTTTAGGAGTTTCTGTG 0.547 Esophageal Squamous(95;611 1423 5044 34794 42333) NA 84 124 1.58411e-63 2.80971e-63 0.00361 1 0 NOTCH1 4851 broad.mit.edu 37 9 139391157 139391157 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:139391157C>A uc004chz.2 - 34 7034 c.7034G>T c.(7033-7035)GGC>GTC p.G2345V NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2345 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCCTACCATGCCATGCTGCAG 0.682 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 8 71 2.17888e-05 2.72967e-05 0.006214 1 0 SHOX 6473 broad.mit.edu 37 X 595382 595382 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:595382G>A uc004cph.1 + 3 998 c.307G>A c.(307-309)GAC>AAC p.D103N SHOX_uc004cpi.2_Missense_Mutation_p.D103N NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 103 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAAGCGCGAGGACGTGAAGTC 0.622 Ovarian(95;18 1419 12424 14056 28266) NA 16 25 0 0 0.008871 0 0 EIF1AX 1964 broad.mit.edu 37 X 20148716 20148716 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:20148716T>C uc004czt.2 - 6 555 c.347A>G c.(346-348)AAT>AGT p.N116S NM_001412 NP_001403 P47813 IF1AX_HUMAN X-linked eukaryotic translation initiation 116 cytosol translation initiation factor activity ovary(1) 1 ATCAGTTTCATTGATTTTAGC 0.328 NA 14 4 0 0 0.00245 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999035 27999035 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:27999035C>T uc004dbx.1 - 1 532 c.417G>A c.(415-417)TTG>TTA p.L139L NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 139 ovary(3)|skin(1) 4 TCCACTCCTCCAACGCCTGAT 0.498 NA 8 7 0 0 0.00308 0 0 FAM47C 442444 broad.mit.edu 37 X 37028396 37028396 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:37028396G>A uc004ddl.1 + 1 1927 c.1913G>A c.(1912-1914)CGG>CAG p.R638Q NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 638 ovary(3) 3 CCCAAGACTCGGATGTACAGT 0.647 NA 43 33 0 0 0.00361 0 0 RBM10 8241 broad.mit.edu 37 X 47034417 47034417 + Splice_Site SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:47034417G>A uc004dhf.2 + 6 882 c.503_splice c.e6-1 p.G168_splice RBM10_uc004dhe.1_Intron|RBM10_uc004dhg.2_Splice_Site_p.G91_splice|RBM10_uc004dhh.2_Splice_Site_p.G168_splice|RBM10_uc010nhq.2_Splice_Site_p.G91_splice|RBM10_uc004dhi.2_Splice_Site_p.G233_splice NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 GCTGTCTCCAGGTCAGAGCCG 0.532 Melanoma(171;120 2705 19495 39241) NA 20 8 0 0 0.001882 0 0 ITIH5L 347365 broad.mit.edu 37 X 54781507 54781507 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:54781507G>T uc004dtj.2 - 9 3175 c.3145C>A c.(3145-3147)CTG>ATG p.L1049M NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 1049 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GCTCCTCCCAGGATCTCCTCA 0.483 NA 35 15 1.43246e-33 2.46296e-33 0.007835 1 0 LAS1L 81887 broad.mit.edu 37 X 64749694 64749694 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:64749694C>A uc004dwa.1 - 5 651 c.579G>T c.(577-579)CTG>CTT p.L193L LAS1L_uc004dwc.1_Silent_p.L193L|LAS1L_uc004dwd.1_Silent_p.L151L NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 193 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 AGGTCTCTCTCAGGCTGTTCT 0.517 NA 42 30 4.0492e-12 6.23096e-12 0.006999 1 0 TEX11 56159 broad.mit.edu 37 X 69890292 69890292 + Silent SNP G G A rs148392671 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:69890292G>A uc004dyl.2 - 17 1522 c.1360C>T c.(1360-1362)CTG>TTG p.L454L TEX11_uc004dyk.2_Silent_p.L129L|TEX11_uc004dym.2_Silent_p.L439L NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 454 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) GTGAAGTCCAGATCCATTTCA 0.353 NA 19 3 0 0 0.001523 0 0 ATRX 546 broad.mit.edu 37 X 76891476 76891476 + Silent SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:76891476T>C uc004ecp.3 - 16 4861 c.4629A>G c.(4627-4629)GAA>GAG p.E1543E ATRX_uc004ecq.3_Silent_p.E1505E|ATRX_uc004eco.3_Silent_p.E1328E NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1543 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CTTTGGTTTCTTCATCTTCAT 0.333 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 13 7 0 0 0.001368 0 0 TEX13A 56157 broad.mit.edu 37 X 104464957 104464957 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:104464957G>T uc004ema.2 - 2 237 c.125C>A c.(124-126)TCC>TAC p.S42Y IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.S42Y NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 42 intracellular zinc ion binding ovary(2) 2 CTTCTCCCAGGATAAGGATAT 0.567 NA 11 23 1.61879e-10 2.42459e-10 0.001368 1 0 COL4A6 1288 broad.mit.edu 37 X 107418907 107418907 + Missense_Mutation SNP C C A rs140519216 byFrequency TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:107418907C>A uc004enw.3 - 29 2913 c.2810G>T c.(2809-2811)CGT>CTT p.R937L COL4A6_uc004env.3_Missense_Mutation_p.R936L|COL4A6_uc011msn.1_Missense_Mutation_p.R936L|COL4A6_uc010npk.2_Missense_Mutation_p.R936L NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 937 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 AGTACCAGCACGTCCAGATGG 0.428 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 41 7 7.05121e-23 1.17637e-22 0.002522 1 0 DCX 1641 broad.mit.edu 37 X 110654013 110654013 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:110654013G>A uc004epd.2 - 1 362 c.190C>T c.(190-192)CCG>TCG p.P64S DCX_uc011msv.1_Missense_Mutation_p.P64S|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 64 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 TGGAACTTCGGGCTAAATACA 0.423 NA 11 98 0 0 0.000978 0 0 AMOT 154796 broad.mit.edu 37 X 112024174 112024174 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:112024174G>A uc004epr.2 - 9 2413 c.2413C>T c.(2413-2415)CTG>TTG p.L805L AMOT_uc004eps.2_Silent_p.L396L|AMOT_uc011mtc.1_Silent_p.L45L|hsa-mir-4329|MI0015901_5'Flank NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 805 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 GAGCCAGTCAGGGTGGATGAG 0.527 NA 5 83 0 0 0.000602 0 0 USP26 83844 broad.mit.edu 37 X 132160640 132160640 + Missense_Mutation SNP G G T rs144039408 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:132160640G>T uc010nrm.1 - 6 2079 c.1609C>A c.(1609-1611)CAG>AAG p.Q537K USP26_uc011mvf.1_Missense_Mutation_p.Q537K NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 537 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) ATGACTTCCTGGTCATTCTTC 0.403 NSCLC(104;342 1621 36940 47097 52632) NA 42 36 9.73076e-26 1.64787e-25 0.006999 1 0 HIAT1 64645 broad.mit.edu 37 1 100544036 100544037 + Frame_Shift_Del DEL CC CC - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:100544036_100544037delCC uc001dst.2 + 10 1034_1035 c.1034_1035delCC c.(1033-1035)GCCfs p.A345fs NM_033055 NP_149044 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 345 Helical; Name=10; (Potential). transmembrane transport integral to membrane|plasma membrane transporter activity 0 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) GCAGTAGCAGCCATGTCTAGCA 0.426 NA 7 80 --- --- --- --- NA NA NA NA NA KIAA1462 57608 broad.mit.edu 37 10 30315934 30315935 + Frame_Shift_Del DEL AA AA - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 AA AA - - AA AA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:30315934_30315935delAA uc001iux.2 - 2 3201_3202 c.3142_3143delTT c.(3142-3144)TTAfs p.L1048fs KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Frame_Shift_Del_p.L910fs|KIAA1462_uc009xle.1_Frame_Shift_Del_p.L1048fs NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1048 ovary(4) 4 CACAGACCGTAAGTCTGGAGCT 0.589 NA 35 131 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1221270 1221279 + Frame_Shift_Del DEL GAGAACATCG GAGAACATCG - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 GAGAACATCG GAGAACATCG - - GAGAACATCG GAGAACATCG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:1221270_1221279delGAGAACATCG uc002lrl.1 + 6 1908_1917 c.793_802delGAGAACATCG c.(793-804)GAGAACATCGGGfs p.E265fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 265_268 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2)|p.Y246fs*3(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGTTGTTTGAGAACATCGGGAAGGGGAG 0.605 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 8 14 --- --- --- --- NA NA NA NA NA GTDC1 79712 broad.mit.edu 37 2 144709595 144709595 + Frame_Shift_Del DEL T T - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:144709595delT uc002tvp.2 - 11 1526 c.1247delA c.(1246-1248)CAGfs p.Q416fs GTDC1_uc002tvo.2_Frame_Shift_Del_p.R368fs|GTDC1_uc002tvq.2_Frame_Shift_Del_p.Q298fs|GTDC1_uc002tvr.2_Frame_Shift_Del_p.Q331fs|GTDC1_uc010fnn.2_Frame_Shift_Del_p.Q416fs|GTDC1_uc002tvs.2_Frame_Shift_Del_p.Q384fs|GTDC1_uc010fno.2_Frame_Shift_Del_p.Q287fs NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 416 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) GCAGAAATTCTGGAGCCTTTT 0.333 NA 24 42 --- --- --- --- NA NA NA NA NA PLCL1 5334 broad.mit.edu 37 2 198966044 198966044 + Frame_Shift_Del DEL G G - rs77860458 byFrequency TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:198966044delG uc010fsp.2 + 4 3246 c.2955delG c.(2953-2955)GCGfs p.A985fs PLCL1_uc002uuv.3_Frame_Shift_Del_p.A906fs NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 985 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TAGAAATGGCGGACACAGTCC 0.318 NA 37 57 --- --- --- --- NA NA NA NA NA MICAL3 57553 broad.mit.edu 37 22 18389298 18389318 + Splice_Site DEL ACAGGAGCAAAGCTTACCTTG ACAGGAGCAAAGCTTACCTTG - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 ACAGGAGCAAAGCTTACCTTG ACAGGAGCAAAGCTTACCTTG - - ACAGGAGCAAAGCTTACCTTG ACAGGAGCAAAGCTTACCTTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:18389298_18389318delACAGGAGCAAAGCTTACCTTG uc002zng.3 - 2 617 c.264_splice c.e2+1 p.K88_splice MICAL3_uc011agl.1_Splice_Site_p.K88_splice|MICAL3_uc002znh.2_Splice_Site_p.K88_splice|MICAL3_uc002znk.1_Splice_Site_p.K88_splice|MICAL3_uc002znl.1_Splice_Site|MICAL3_uc010grf.2_Splice_Site_p.K88_splice|MICAL3_uc011agm.1_Splice_Site_p.K88_splice NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CCAGGGCCCAACAGGAGCAAAGCTTACCTTGGTGTTAGTGC 0.498 NA 24 104 --- --- --- --- NA NA NA NA NA EPHA6 285220 broad.mit.edu 37 3 97251210 97251210 + Frame_Shift_Del DEL G G - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:97251210delG uc010how.1 + 11 2252 c.2209delG c.(2209-2211)GGAfs p.G737fs EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Frame_Shift_Del_p.G103fs|EPHA6_uc003drs.3_Frame_Shift_Del_p.G129fs|EPHA6_uc003drr.3_Frame_Shift_Del_p.G129fs|EPHA6_uc003drt.2_Frame_Shift_Del_p.G129fs|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 642 ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 AGGTGAATTTGGAGAAGTCTG 0.388 NA 8 63 --- --- --- --- NA NA NA NA NA LZTS1 11178 broad.mit.edu 37 8 20110819 20110819 + Frame_Shift_Del DEL C C - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:20110819delC uc003wzr.2 - 2 734 c.623delG c.(622-624)GGCfs p.G208fs LZTS1_uc010ltg.1_Frame_Shift_Del_p.G208fs NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 208 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GTGGGCGGAGCCCCCAAAACG 0.637 NA 47 82 --- --- --- --- NA NA NA NA NA CDKN2A 1029 broad.mit.edu 37 9 21974782 21974783 + Frame_Shift_Ins INS - - GA rs138677674 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:21974782_21974783insGA uc003zpk.2 - 1 256_257 c.44_45insTC c.(43-45)TGGfs p.W15fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Ins_p.W15fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 15 ANK 1. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(23)|p.W15*(7)|p.S12fs*6(1)|p.L16fs*9(1)|p.W15L(1)|p.S7_A19del(1)|p.M9_A20>X(1)|p.S12fs*20(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCGTGGCCAGCCAGTCAGCCGA 0.757 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 9 26 --- --- --- --- NA NA NA NA NA ZNF484 83744 broad.mit.edu 37 9 95609868 95609871 + Frame_Shift_Del DEL TACT TACT - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 TACT TACT - - TACT TACT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:95609868_95609871delTACT uc004asu.1 - 5 1347_1350 c.1198_1201delAGTA c.(1198-1203)AGTATGfs p.S400fs ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Frame_Shift_Del_p.S402fs|ZNF484_uc010mrb.1_Frame_Shift_Del_p.S364fs|ZNF484_uc004asv.1_Frame_Shift_Del_p.S364fs NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 400_401 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCTGATGCATACTTAGTGTTGAT 0.338 NA 14 22 --- --- --- --- NA NA NA NA NA