Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PLEKHN1 84069 broad.mit.edu 37 1 909316 909316 + Missense_Mutation SNP G G T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:909316G>T uc001ace.2 + 13 1729 c.1694G>T c.(1693-1695)GGC>GTC p.G565V PLEKHN1_uc001acd.2_Missense_Mutation_p.G513V|PLEKHN1_uc001acf.2_Missense_Mutation_p.G478V NM_032129 NP_115505 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N 565 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) TGCTCCTCCGGCCCCGCTGGC 0.692 NA 6 28 3.6e-05 4.28e-05 1 0 CCNL2 81669 broad.mit.edu 37 1 1325617 1325617 + Silent SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:1325617G>A uc001afi.2 - 8 1031 c.999C>T c.(997-999)CCC>CCT p.P333P CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Silent_p.P111P|CCNL2_uc001afg.1_Silent_p.P111P|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR NM_030937 NP_112199 Q96S94 CCNL2_HUMAN cyclin L2 isoform A 333 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) CACCCAGCTTGGGGGCAGGAG 0.597 NA 24 140 0 0 0 0 CLCNKA 1187 broad.mit.edu 37 1 16359665 16359665 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:16359665G>A uc001axu.2 + 19 2010 c.1930G>A c.(1930-1932)GCA>ACA p.A644T CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A643T|CLCNKA_uc010obw.1_Missense_Mutation_p.A601T|CLCNKB_uc001axw.3_Intron NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 644 CBS 2. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CCCCATCCAGGCACAAAACCT 0.627 NA OREG0013132 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 205 0 0 0 0 GPSM2 29899 broad.mit.edu 37 1 109446790 109446790 + Nonsense_Mutation SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:109446790C>G uc010ovc.1 + 10 1602 c.1106C>G c.(1105-1107)TCA>TGA p.S369* AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Nonsense_Mutation_p.S369*|GPSM2_uc010ove.1_Nonsense_Mutation_p.S369* NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein 369 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) CTTAATCTCTCAGACCTTCAA 0.348 NA 7 40 0 0 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144882464 144882464 + Silent SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:144882464G>A uc001elw.3 - 24 3846 c.3555C>T c.(3553-3555)TTC>TTT p.F1185F NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.F192F NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1185 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CATCCACTGTGAAGGTAGCCC 0.502 NA T PDGFRB MPD 7 107 0 0 0 0 ATP1A2 477 broad.mit.edu 37 1 160109515 160109515 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:160109515C>T uc001fvc.2 + 21 3058 c.2926C>T c.(2926-2928)CGC>TGC p.R976C ATP1A2_uc001fvd.2_Missense_Mutation_p.R695C NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 976 Extracellular (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGTAGCCCTCCGCATGTACCC 0.557 NA 18 47 0 0 0 0 SOX13 9580 broad.mit.edu 37 1 204082212 204082212 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:204082212G>A uc001ham.2 + 2 764 c.169G>A c.(169-171)GAT>AAT p.D57N SOX13_uc001hal.2_Missense_Mutation_p.D57N|SOX13_uc010pqp.1_Missense_Mutation_p.D57N|SOX13_uc010pqq.1_5'Flank NM_005686 NP_005677 Q9UN79 SOX13_HUMAN SRY-box 13 57 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GGCCTCCCAGGATAGTGCTGA 0.652 NA 5 18 0 0 0 0 RBM34 23029 broad.mit.edu 37 1 235324324 235324324 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:235324324C>T uc001hwn.2 - 2 142 c.112G>A c.(112-114)GTC>ATC p.V38I RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.V38I NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 38 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) CTACTGGCGACCTGTCCAAGC 0.597 NA 4 64 0 0 0 0 CEP170 9859 broad.mit.edu 37 1 243362360 243362360 + Splice_Site SNP A A G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:243362360A>G uc001hzs.2 - 7 1039 c.631_splice c.e7+1 p.G211_splice CEP170_uc001hzt.2_Splice_Site_p.G211_splice|CEP170_uc001hzu.2_Splice_Site_p.G211_splice NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) AGATTTTTTTACCTGATGTTC 0.403 NA 5 36 0 0 0 0 OR2T12 127064 broad.mit.edu 37 1 248458187 248458187 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:248458187G>A uc010pzj.1 - 1 694 c.694C>T c.(694-696)CGC>TGC p.R232C NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GCCTTCTTGCGGGCTTCTGTA 0.522 NA 24 86 0 0 0 0 IL2RA 3559 broad.mit.edu 37 10 6066285 6066285 + Missense_Mutation SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr10:6066285G>C uc001iiz.1 - 3 448 c.289C>G c.(289-291)CAA>GAA p.Q97E IL2RA_uc009xih.1_Missense_Mutation_p.Q97E|IL2RA_uc001ija.1_Missense_Mutation_p.Q59E NM_000417 NP_000408 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha chain precursor 97 Extracellular (Potential). cell proliferation integral to membrane interleukin-2 receptor activity ovary(1)|skin(1) 2 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TCTTCAGGTTGAGGTGTCACT 0.423 NA 6 46 0 0 0 0 ITGA8 8516 broad.mit.edu 37 10 15628625 15628625 + Missense_Mutation SNP A A G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr10:15628625A>G uc001ioc.1 - 23 2330 c.2330T>C c.(2329-2331)CTG>CCG p.L777P ITGA8_uc010qcb.1_Missense_Mutation_p.L762P NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 777 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GTTGATTTGCAGGCTCACAAA 0.358 NA 8 34 0 0 0 0 LDB3 11155 broad.mit.edu 37 10 88452313 88452313 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr10:88452313C>T uc001kdv.2 + 6 904 c.881C>T c.(880-882)GCT>GTT p.A294V LDB3_uc010qml.1_Missense_Mutation_p.A294V|LDB3_uc010qmm.1_Missense_Mutation_p.A362V|LDB3_uc001kdu.2_Missense_Mutation_p.A247V|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Missense_Mutation_p.A247V|LDB3_uc009xsy.2_Missense_Mutation_p.A362V|LDB3_uc001kds.2_Missense_Mutation_p.A294V|LDB3_uc001kdt.2_RNA NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 294 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 GATGAAGAAGCTCTGCGAAGG 0.602 NA 15 86 0 0 0 0 NOLC1 9221 broad.mit.edu 37 10 103921945 103921945 + Silent SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr10:103921945G>A uc001kuo.2 + 13 2254 c.2019G>A c.(2017-2019)GAG>GAA p.E673E NOLC1_uc001kup.2_Silent_p.E683E|NOLC1_uc001kuq.2_Silent_p.E674E|NOLC1_uc009xxb.1_Silent_p.E392E|NOLC1_uc001kur.2_Silent_p.E392E NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 673 mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) TTCGGCATGAGAAAACCAAGA 0.527 NA 55 288 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1271810 1271810 + Missense_Mutation SNP C C A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr11:1271810C>A uc009ycr.1 + 51 15245 c.15119C>A c.(15118-15120)GCC>GAC p.A5040D MUC5B_uc001ltb.2_Missense_Mutation_p.A4570D NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4567 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. A -> T (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTGCTTACCGCCACGGCCACC 0.647 NA 83 240 4.19e-30 5.4e-30 1 0 NLRP14 338323 broad.mit.edu 37 11 7059962 7059962 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr11:7059962G>A uc001mfb.1 + 2 468 c.145G>A c.(145-147)GAA>AAA p.E49K NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 49 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ACCCTGGAATGAAGTGAAGAA 0.438 NA 10 85 0 0 0 0 E2F8 79733 broad.mit.edu 37 11 19259523 19259523 + Missense_Mutation SNP T T C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr11:19259523T>C uc001mpm.2 - 3 694 c.172A>G c.(172-174)ACA>GCA p.T58A E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.T58A|E2F8_uc001mpo.1_Missense_Mutation_p.T58A NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 58 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GCTGTCGGTGTCCACGGCTCT 0.517 NA 3 172 0 0 0 0 LRP4 4038 broad.mit.edu 37 11 46917452 46917452 + Missense_Mutation SNP T T A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr11:46917452T>A uc001ndn.3 - 10 1312 c.1166A>T c.(1165-1167)GAT>GTT p.D389V NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 389 Extracellular (Potential).|EGF-like 1; calcium-binding (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CGTGTGCCCATCCTCTGTGAG 0.557 NA 22 82 0 0 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74880401 74880401 + Missense_Mutation SNP T T G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr11:74880401T>G uc001owb.2 + 5 1019 c.632T>G c.(631-633)ATC>AGC p.I211S SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Missense_Mutation_p.I67S|SLCO2B1_uc010rrs.1_Missense_Mutation_p.I95S|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Missense_Mutation_p.I189S NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 211 Helical; Name=4; (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) CCCTTTGGCATCTCCTACATC 0.597 NA 9 92 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717534 13717534 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr12:13717534G>A uc001rbt.2 - 13 2817 c.2638C>T c.(2638-2640)CGC>TGC p.R880C NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 880 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACAGACTGGCGCTCCTCGATC 0.537 NA 24 125 0 0 0 0 PTPRO 5800 broad.mit.edu 37 12 15722430 15722430 + Missense_Mutation SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr12:15722430G>C uc001rcv.1 + 19 3001 c.2827G>C c.(2827-2829)GAG>CAG p.E943Q PTPRO_uc001rcw.1_Missense_Mutation_p.E915Q|PTPRO_uc001rcx.1_Missense_Mutation_p.E132Q|PTPRO_uc001rcy.1_Missense_Mutation_p.E132Q|PTPRO_uc001rcz.1_Missense_Mutation_p.E104Q|PTPRO_uc001rda.1_Missense_Mutation_p.E104Q NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 943 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) TCTTCAGTTTGAGGTGAGTTG 0.448 NA 4 49 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49420564 49420564 + Missense_Mutation SNP C C A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr12:49420564C>A uc001rta.3 - 48 15185 c.15185G>T c.(15184-15186)TGT>TTT p.C5062F NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5062 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 CCAAAGGGCACAGTTGAGGTG 0.617 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 19 91 2.46e-09 3.07e-09 1 0 TPH2 121278 broad.mit.edu 37 12 72425343 72425343 + Silent SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr12:72425343C>T uc009zrw.1 + 11 1482 c.1341C>T c.(1339-1341)TTC>TTT p.F447F TPH2_uc001swy.2_Silent_p.F357F NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 447 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) CAGTATACTTCAATCCCTACA 0.423 NA 8 55 0 0 0 0 RFX4 5992 broad.mit.edu 37 12 107126831 107126831 + Missense_Mutation SNP C C A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr12:107126831C>A uc001tlr.2 + 15 1667 c.1601C>A c.(1600-1602)CCT>CAT p.P534H RFX4_uc001tls.2_Missense_Mutation_p.P543H|RFX4_uc001tlt.2_Missense_Mutation_p.P543H|RFX4_uc001tlv.2_Missense_Mutation_p.P440H NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 534 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 GTTAGCAATCCTTCCCCTGAG 0.478 NA 5 188 0.00116845 0.00131656 1 0 SSH1 54434 broad.mit.edu 37 12 109201543 109201543 + Silent SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr12:109201543G>A uc001tnm.2 - 8 684 c.597C>T c.(595-597)CCC>CCT p.P199P SSH1_uc001tnl.2_5'Flank|SSH1_uc010sxg.1_Silent_p.P210P|SSH1_uc001tnn.3_Silent_p.P199P|SSH1_uc001tno.1_Silent_p.P103P NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 199 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 CTACACCCCCGGGGAAGTAGT 0.612 NA 25 68 0 0 0 0 TPTE2 93492 broad.mit.edu 37 13 20041462 20041462 + Silent SNP A A G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr13:20041462A>G uc001umd.2 - 8 626 c.415T>C c.(415-417)TTA>CTA p.L139L TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 139 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATGTTAAATAAGTCAGAAAAA 0.303 NA 8 28 0 0 0 0 DZIP1 22873 broad.mit.edu 37 13 96237020 96237020 + Missense_Mutation SNP C C T rs147653120 TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr13:96237020C>T uc001vmk.2 - 22 3346 c.2494G>A c.(2494-2496)GCA>ACA p.A832T DZIP1_uc001vmi.2_Missense_Mutation_p.A80T|DZIP1_uc001vmj.2_Missense_Mutation_p.A308T|DZIP1_uc001vml.2_Missense_Mutation_p.A813T|DZIP1_uc001vmm.2_5'Flank NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 832 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) GGATTAAATGCGCCCCAGGCA 0.408 NA 38 90 0 0 0 0 TMTC4 84899 broad.mit.edu 37 13 101289875 101289875 + Missense_Mutation SNP G G A rs141063052 TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr13:101289875G>A uc001vou.2 - 8 1019 c.859C>T c.(859-861)CGC>TGC p.R287C TMTC4_uc001vot.2_Missense_Mutation_p.R306C|TMTC4_uc010tja.1_Missense_Mutation_p.R176C|TMTC4_uc001vov.1_Missense_Mutation_p.R32C|TMTC4_uc001vow.1_Missense_Mutation_p.R70C NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 287 Helical; (Potential). integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ATCCTCCAGCGCACGTAGAGC 0.627 NA 10 126 0 0 0 0 CCNB1IP1 57820 broad.mit.edu 37 14 20781879 20781879 + Nonsense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr14:20781879G>A uc001vwv.2 - 6 1028 c.379C>T c.(379-381)CAG>TAG p.Q127* CCNB1IP1_uc001vww.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_uc001vwx.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_uc001vwy.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_uc001vwz.2_Nonsense_Mutation_p.Q127* NM_182851 NP_878271 Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1 isoform 3 127 Potential. chromosome|nucleus ligase activity|metal ion binding|protein binding HMGA2/CCNB1IP1(2) soft_tissue(2)|ovary(1) 3 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) TGTATTTGCTGAGTATATATC 0.383 NA T HMGA2 leiomyoma 6 46 0 0 0 0 OR6S1 341799 broad.mit.edu 37 14 21109439 21109439 + Missense_Mutation SNP T T C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr14:21109439T>C uc001vxv.1 - 1 412 c.412A>G c.(412-414)ATG>GTG p.M138V NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) GCCCCACTCATGAGCAAGGGG 0.587 NA 14 54 0 0 0 0 ZFP36L1 677 broad.mit.edu 37 14 69257036 69257036 + Silent SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr14:69257036G>A uc001xkh.1 - 2 361 c.231C>T c.(229-231)CCC>CCT p.P77P ZFP36L1_uc001xki.1_Silent_p.P77P NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 77 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGCTCAGAGCGGGGGCTGGCT 0.692 NA OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 47 0 0 0 0 EXD2 55218 broad.mit.edu 37 14 69701563 69701563 + Silent SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr14:69701563C>T uc001xkt.2 + 7 1148 c.489C>T c.(487-489)GTC>GTT p.V163V EXD2_uc001xku.2_Silent_p.V33V|EXD2_uc001xkv.2_Silent_p.V288V|EXD2_uc001xkw.2_Silent_p.V163V|EXD2_uc010aqt.2_Silent_p.V288V|EXD2_uc010tte.1_Silent_p.V288V|EXD2_uc001xky.2_Silent_p.V163V NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 163 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 AGGGTGTGGTCGACATCCCAT 0.433 NA 13 55 0 0 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102516786 102516786 + Silent SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr14:102516786C>G uc001yks.2 + 78 13991 c.13827C>G c.(13825-13827)GTC>GTG p.V4609V NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4609 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CCTTACCTGTCTACCTGAACT 0.542 NA 34 266 0 0 0 0 TRPM1 4308 broad.mit.edu 37 15 31294456 31294456 + Missense_Mutation SNP T T C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr15:31294456T>C uc001zfm.2 - 27 4509 c.4381A>G c.(4381-4383)ATC>GTC p.I1461V TRPM1_uc010azy.2_Missense_Mutation_p.I1368V|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1461 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TGGTCCGTGATTGAACTGTAC 0.468 NA 35 120 0 0 0 0 ATP8B4 79895 broad.mit.edu 37 15 50212513 50212513 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr15:50212513G>A uc001zxu.2 - 18 1995 c.1853C>T c.(1852-1854)GCG>GTG p.A618V ATP8B4_uc010ber.2_Missense_Mutation_p.A491V|ATP8B4_uc010ufd.1_Missense_Mutation_p.A428V|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 618 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 skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GGCAGCATTCGCATCTTCAAG 0.448 NA 9 84 0 0 0 0 UACA 55075 broad.mit.edu 37 15 70960742 70960742 + Missense_Mutation SNP T T C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr15:70960742T>C uc002asr.2 - 16 2385 c.2281A>G c.(2281-2283)ATT>GTT p.I761V UACA_uc010uke.1_Missense_Mutation_p.I652V|UACA_uc002asq.2_Missense_Mutation_p.I748V|UACA_uc010bin.1_Missense_Mutation_p.I736V NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 761 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 AGATCATCAATAATTGCATCA 0.303 NA 11 37 0 0 0 0 TMEM202 338949 broad.mit.edu 37 15 72698993 72698993 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr15:72698993C>T uc002auq.2 + 3 388 c.388C>T c.(388-390)CTT>TTT p.L130F TMEM202_uc002aur.2_RNA NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN transmembrane protein 202 130 Helical; (Potential). integral to membrane central_nervous_system(1)|skin(1) 2 CTTTACCATACTTACTGGCCT 0.478 NA 20 122 0 0 0 0 KIAA1199 57214 broad.mit.edu 37 15 81173350 81173350 + Missense_Mutation SNP C C A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr15:81173350C>A uc002bfw.1 + 5 750 c.490C>A c.(490-492)CTG>ATG p.L164M KIAA1199_uc010unn.1_Missense_Mutation_p.L164M NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 164 G8. upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CTGGACATTTCTGAACAAGAC 0.493 NA 24 129 7.34e-06 8.89e-06 1 0 CHSY1 22856 broad.mit.edu 37 15 101775715 101775715 + Missense_Mutation SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr15:101775715G>C uc002bwt.1 - 3 871 c.388C>G c.(388-390)CCA>GCA p.P130A NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 130 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACTGGAATTGGTACAGATGTG 0.458 NA 25 102 0 0 0 0 ADCY9 115 broad.mit.edu 37 16 4164292 4164292 + Silent SNP A A G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr16:4164292A>G uc002cvx.2 - 2 1691 c.1152T>C c.(1150-1152)CCT>CCC p.P384P NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 384 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 GCATCTTAAAAGGGCGGAAGG 0.488 NA 3 133 0 0 0 0 ADCY9 115 broad.mit.edu 37 16 4164320 4164320 + Missense_Mutation SNP A A T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr16:4164320A>T uc002cvx.2 - 2 1663 c.1124T>A c.(1123-1125)ATC>AAC p.I375N NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 375 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 AGCTTTTTGGATGGAAGACTT 0.463 NA 33 111 0 0 0 0 ABCC12 94160 broad.mit.edu 37 16 48173139 48173139 + Missense_Mutation SNP A A G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr16:48173139A>G uc002efc.1 - 5 1112 c.766T>C c.(766-768)TTT>CTT p.F256L ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.F256L|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 256 ABC transmembrane type-1 1.|Helical; (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) AGAATGAAAAAGGCGTACGCC 0.473 NA 3 114 0 0 0 0 NFATC3 4775 broad.mit.edu 37 16 68156924 68156924 + Missense_Mutation SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr16:68156924C>G uc002evo.1 + 2 1348 c.1138C>G c.(1138-1140)CAG>GAG p.Q380E NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.Q380E|NFATC3_uc002evm.1_Missense_Mutation_p.Q380E|NFATC3_uc002evn.1_Missense_Mutation_p.Q380E|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 380 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CCTTGGATCTCAGTATCCTTT 0.453 NA 20 115 0 0 0 0 CA5A 763 broad.mit.edu 37 16 87960541 87960541 + Silent SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr16:87960541G>C uc002fkn.1 - 2 209 c.153C>G c.(151-153)CTC>CTG p.L51L NM_001739 NP_001730 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial precursor 51 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0513) GGACCGTCCAGAGTGGGTGCA 0.632 NA 2 7 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652 R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 24 58 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578555 7578555 + Splice_Site SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:7578555C>T uc002gim.2 - 5 570 c.376_splice c.e5-1 p.Y126_splice TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGGGAGTACTGTAGGAAGA 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 22 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11556233 11556233 + Missense_Mutation SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:11556233C>G uc002gne.2 + 14 2577 c.2509C>G c.(2509-2511)CTT>GTT p.L837V DNAH9_uc010coo.2_Missense_Mutation_p.L131V NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 837 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGAATCCCTTCTTTCTCTGGA 0.388 NA 18 53 0 0 0 0 NEK8 284086 broad.mit.edu 37 17 27068133 27068133 + Silent SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:27068133C>T uc002hcp.2 + 13 1770 c.1770C>T c.(1768-1770)CAC>CAT p.H590H TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 590 RCC1 4. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) GCAATCAGCACGGACAGTTGG 0.582 NA 28 118 0 0 0 0 SEZ6 124925 broad.mit.edu 37 17 27286791 27286791 + Missense_Mutation SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:27286791C>G uc002hdp.2 - 8 1890 c.1696G>C c.(1696-1698)GAG>CAG p.E566Q SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.E566Q|SEZ6_uc002hdq.1_Missense_Mutation_p.E441Q NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 566 Extracellular (Potential).|Sushi 2. integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GAGCCCTGCTCCAGGGTGTAG 0.587 NA 5 49 0 0 0 0 SGCA 6442 broad.mit.edu 37 17 48243421 48243421 + Nonsense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:48243421G>A uc002iqi.2 + 1 56 c.20G>A c.(19-21)TGG>TAG p.W7* SGCA_uc010wmh.1_5'UTR|SGCA_uc002iqj.2_Nonsense_Mutation_p.W7*|SGCA_uc010wmi.1_RNA NM_000023 NP_000014 Q16586 SGCA_HUMAN sarcoglycan, alpha isoform 1 precursor 7 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(2) 2 ACACTCTTCTGGACTCCTCTC 0.517 NA 13 233 0 0 0 0 CACNA1G 8913 broad.mit.edu 37 17 48695588 48695588 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:48695588G>A uc002irk.1 + 32 5683 c.5311G>A c.(5311-5313)GAC>AAC p.D1771N CACNA1G_uc002irj.1_Missense_Mutation_p.D1737N|CACNA1G_uc002irl.1_Missense_Mutation_p.D1748N|CACNA1G_uc002irm.1_Missense_Mutation_p.D1737N|CACNA1G_uc002irn.1_Missense_Mutation_p.D1730N|CACNA1G_uc002iro.1_Missense_Mutation_p.D1737N|CACNA1G_uc002irp.1_Missense_Mutation_p.D1771N|CACNA1G_uc002irq.1_Missense_Mutation_p.D1748N|CACNA1G_uc002irr.1_Missense_Mutation_p.D1771N|CACNA1G_uc002irs.1_Missense_Mutation_p.D1760N|CACNA1G_uc002irt.1_Missense_Mutation_p.D1753N|CACNA1G_uc002irv.1_Missense_Mutation_p.D1760N|CACNA1G_uc002irw.1_Missense_Mutation_p.D1748N|CACNA1G_uc002iru.1_Missense_Mutation_p.D1737N|CACNA1G_uc002irx.1_Missense_Mutation_p.D1684N|CACNA1G_uc002iry.1_Missense_Mutation_p.D1673N|CACNA1G_uc002irz.1_Missense_Mutation_p.D1677N|CACNA1G_uc002isa.1_Missense_Mutation_p.D1650N|CACNA1G_uc002isb.1_Missense_Mutation_p.D1691N|CACNA1G_uc002isc.1_Missense_Mutation_p.D1673N|CACNA1G_uc002isd.1_Missense_Mutation_p.D1659N|CACNA1G_uc002ise.1_Missense_Mutation_p.D1639N|CACNA1G_uc002isf.1_Missense_Mutation_p.D1666N|CACNA1G_uc002isg.1_Missense_Mutation_p.D1632N|CACNA1G_uc002ish.1_Missense_Mutation_p.D1639N|CACNA1G_uc002isi.1_Missense_Mutation_p.D1627N NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1771 IV.|Extracellular (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCCAGAGTGTGACGAGACACA 0.622 NA 22 66 0 0 0 0 TEX14 56155 broad.mit.edu 37 17 56676800 56676800 + Missense_Mutation SNP T T C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:56676800T>C uc010dcz.1 - 14 2042 c.1924A>G c.(1924-1926)ATA>GTA p.I642V TEX14_uc002iwr.1_Missense_Mutation_p.I636V|TEX14_uc002iws.1_Missense_Mutation_p.I636V|TEX14_uc010dda.1_Missense_Mutation_p.I416V NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 642 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCTCTTCTATGTCATCTTCC 0.502 NA 18 77 0 0 0 0 ABCA6 23460 broad.mit.edu 37 17 67094139 67094139 + Silent SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:67094139C>T uc002jhw.1 - 23 3217 c.3042G>A c.(3040-3042)CCG>CCA p.P1014P NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1014 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) AGGAACCATCCGGCAACCCAG 0.358 NA 6 25 0 0 0 0 LLGL2 3993 broad.mit.edu 37 17 73568022 73568022 + Silent SNP C C A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:73568022C>A uc002joh.2 + 19 2491 c.2337C>A c.(2335-2337)ATC>ATA p.I779I LLGL2_uc002joi.2_Silent_p.I779I|LLGL2_uc010dgg.1_Silent_p.I779I|LLGL2_uc002joj.2_Silent_p.I768I|LLGL2_uc010wsd.1_Silent_p.I406I NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 779 WD 12. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TGGTGGGCATCCTGGTGCTCG 0.667 NA 7 31 0.00198382 0.00222744 1 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74639688 74639688 + Silent SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:74639688C>G uc002jsh.2 - 1 207 c.33G>C c.(31-33)CTG>CTC p.L11L ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_RNA NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN sialyltransferase 7A 11 Cytoplasmic (Potential). protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity 0 CGCCTTGGCTCAGGTGCCTGC 0.562 NA 6 28 0 0 0 0 SOCS3 9021 broad.mit.edu 37 17 76354904 76354904 + Silent SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:76354904C>T uc002jvl.2 - 2 689 c.273G>A c.(271-273)AAG>AAA p.K91K NM_003955 NP_003946 O14543 SOCS3_HUMAN suppressor of cytokine signaling 3 91 SH2. anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol protein kinase inhibitor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554) TGCGCAGGTTCTTGGTCCCAG 0.657 NA 7 35 0 0 0 0 PTPRS 5802 broad.mit.edu 37 19 5210481 5210481 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr19:5210481C>T uc002mbv.2 - 35 5720 c.5486G>A c.(5485-5487)CGG>CAG p.R1829Q PTPRS_uc002mbu.1_Missense_Mutation_p.R1398Q|PTPRS_uc010xin.1_Missense_Mutation_p.R1371Q|PTPRS_uc002mbw.2_Missense_Mutation_p.R1791Q|PTPRS_uc002mbx.2_Missense_Mutation_p.R1386Q|PTPRS_uc002mby.2_Missense_Mutation_p.R1382Q NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1829 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TTCACTCACCCGGGCATCTGT 0.557 NA 24 82 0 0 0 0 PRAM1 84106 broad.mit.edu 37 19 8563261 8563261 + Missense_Mutation SNP T T C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr19:8563261T>C uc002mkd.2 - 2 1451 c.1431A>G c.(1429-1431)ATA>ATG p.I477M PRAM1_uc002mkc.2_Missense_Mutation_p.I477M NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 525 lipid binding|protein binding 0 CTCACCCACCTATGGATGCTG 0.697 NA 6 5 0 0 0 0 OR7A5 26659 broad.mit.edu 37 19 14938846 14938846 + Missense_Mutation SNP C C A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr19:14938846C>A uc002mzw.2 - 1 431 c.208G>T c.(208-210)GAC>TAC p.D70Y OR7A5_uc010xoa.1_Missense_Mutation_p.D70Y NM_017506 NP_059976 Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2) 2 ACACAAATGTCAGCAAAGGAC 0.488 NA 39 104 4.33e-17 5.49e-17 1 0 BRD4 23476 broad.mit.edu 37 19 15374344 15374344 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr19:15374344G>A uc002nar.2 - 7 1450 c.1228C>T c.(1228-1230)CGT>TGT p.R410C BRD4_uc002nas.2_Missense_Mutation_p.R410C|BRD4_uc002nat.3_Missense_Mutation_p.R410C|BRD4_uc002nau.3_Missense_Mutation_p.R410C NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 410 Bromo 2. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CGGTACTCACGGGCCTCCAGT 0.532 NA T NUT|C15orf55 lethal midline carcinoma of young people 17 34 0 0 0 0 LILRA1 11024 broad.mit.edu 37 19 55107880 55107880 + Nonsense_Mutation SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr19:55107880C>G uc002qgh.1 + 7 1367 c.1185C>G c.(1183-1185)TAC>TAG p.Y395* LILRA2_uc010yfg.1_Nonsense_Mutation_p.Y393*|LILRA1_uc010yfh.1_Nonsense_Mutation_p.Y395* NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 395 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CGGGGACCTACAGGTGCTACG 0.582 NA 10 210 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15417095 15417095 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr2:15417095C>T uc002rcc.1 - 43 5295 c.5269G>A c.(5269-5271)GAA>AAA p.E1757K NBAS_uc010exl.1_Missense_Mutation_p.E829K|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1757 ovary(2)|liver(1)|skin(1) 4 TGCAGCCTTTCGTGATCAAAG 0.438 NA 12 41 0 0 0 0 ALK 238 broad.mit.edu 37 2 29462560 29462560 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr2:29462560C>T uc002rmy.2 - 13 3248 c.2341G>A c.(2341-2343)GAC>AAC p.D781N NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 781 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGGCAGGCGTCCTCTCCCTGC 0.602 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 14 52 0 0 0 0 NLRC4 58484 broad.mit.edu 37 2 32477515 32477515 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr2:32477515G>A uc002roi.2 - 3 481 c.235C>T c.(235-237)CCT>TCT p.P79S NLRC4_uc002roj.1_Missense_Mutation_p.P79S|NLRC4_uc010ezt.1_Missense_Mutation_p.P79S NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 79 CARD. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGAAATAGAGGATAGTTCCAC 0.413 NA 9 62 0 0 0 0 PNPT1 87178 broad.mit.edu 37 2 55895069 55895069 + Missense_Mutation SNP T T G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr2:55895069T>G uc002rzf.2 - 12 1054 c.1001A>C c.(1000-1002)TAT>TCT p.Y334S PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 334 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TATTATTTCATATGGATCGGC 0.279 NA 13 34 0 0 0 0 VWA3B 200403 broad.mit.edu 37 2 98914471 98914471 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr2:98914471G>A uc002syo.2 + 24 3523 c.3259G>A c.(3259-3261)GCC>ACC p.A1087T VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.A744T|VWA3B_uc002syp.1_Missense_Mutation_p.A479T|VWA3B_uc002syq.1_Missense_Mutation_p.A363T|VWA3B_uc002syr.1_Missense_Mutation_p.A404T|VWA3B_uc002sys.2_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1087 ovary(3)|large_intestine(2)|skin(1) 6 TGTGGGGGGCGCCATGCCCTG 0.587 NA 21 89 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179474486 179474486 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr2:179474486C>T uc010zfg.1 - 221 44184 c.43960G>A c.(43960-43962)GTG>ATG p.V14654M uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V8349M|TTN_uc010zfi.1_Missense_Mutation_p.V8282M|TTN_uc010zfj.1_Missense_Mutation_p.V8157M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15581 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) TCTGCTCGCACACGGAATTGG 0.483 NA 15 411 0 0 0 0 DEFB121 245934 broad.mit.edu 37 20 29992772 29992772 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr20:29992772C>T uc002wvv.1 - 2 211 c.175G>A c.(175-177)GTA>ATA p.V59I NM_001011878 NP_001011878 Q5J5C9 DB121_HUMAN defensin, beta 121 precursor 59 defense response to bacterium extracellular region 0 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TTTGGTTTTACAGGTACATAC 0.413 NA 21 56 0 0 0 0 NCOA6 23054 broad.mit.edu 37 20 33369945 33369945 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr20:33369945C>T uc002xav.2 - 4 2785 c.214G>A c.(214-216)GTG>ATG p.V72M NCOA6_uc002xaw.2_Missense_Mutation_p.V72M|NCOA6_uc010gew.1_Missense_Mutation_p.V72M NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 72 TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 AAATTGGGCACGTTTTTCAAT 0.313 NA 7 25 0 0 0 0 MYH7B 57644 broad.mit.edu 37 20 33587469 33587469 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr20:33587469G>A uc002xbi.1 + 35 4854 c.4762G>A c.(4762-4764)GAG>AAG p.E1588K NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1546 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) CGAGAAGAGTGAGATCCAGGC 0.622 NA 9 41 0 0 0 0 SEMG1 6406 broad.mit.edu 37 20 43836893 43836893 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr20:43836893G>A uc002xni.2 + 2 1012 c.955G>A c.(955-957)GAA>AAA p.E319K SEMG1_uc002xnj.2_Intron|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.E319K NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 319 58 AA repeat 1. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) TAGCCAAACTGAAGAGAAAGC 0.378 NA 7 32 0 0 0 0 TTC3 7267 broad.mit.edu 37 21 38467718 38467718 + Missense_Mutation SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr21:38467718C>G uc002yvz.2 + 9 861 c.756C>G c.(754-756)ATC>ATG p.I252M TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.I252M|TTC3_uc002ywb.2_Missense_Mutation_p.I252M|TTC3_uc010gnf.2_Missense_Mutation_p.I17M|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.I252M NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 252 TPR 1. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TAGCTATTATCTATTACACCA 0.333 NA 6 73 0 0 0 0 TRPM2 7226 broad.mit.edu 37 21 45859043 45859044 + Missense_Mutation DNP GG GG TT rs142254503 byFrequency TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr21:45859043_45859044GG>TT uc002zet.1 + 31 4474_4475 c.4261_4262GG>TT c.(4261-4263)GGC>TTC p.G1421F TRPM2_uc002zeu.1_Missense_Mutation_p.G1421F|TRPM2_uc002zew.1_Missense_Mutation_p.G1421F|TRPM2_uc010gpt.1_Missense_Mutation_p.G1471F|TRPM2_uc002zex.1_Missense_Mutation_p.G1207F|TRPM2_uc002zey.1_Missense_Mutation_p.G900F|TRPM2_uc011aff.1_Missense_Mutation_p.G102F NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1421 Nudix hydrolase.|Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCTGAAGTGCGGCATGGAGGTA 0.599 NA 7 31 0 0 0 0 CCDC116 164592 broad.mit.edu 37 22 21988525 21988525 + Missense_Mutation SNP G G T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr22:21988525G>T uc002zve.2 + 3 380 c.287G>T c.(286-288)CGC>CTC p.R96L CCDC116_uc011aih.1_Missense_Mutation_p.R96L NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 96 Potential. ovary(1)|skin(1) 2 Colorectal(54;0.105) GCGACTGAGCGCATGGCTGCC 0.632 NA 26 66 4.6e-10 5.75e-10 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091841 + Missense_Mutation DNP TG TG CA rs142470496 byFrequency TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr22:29091840_29091841TG>CA uc003adu.1 - 11 1188_1189 c.1116_1117CA>TG c.(1114-1119)TCCAAG>TCTGAG p.K373E CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 373 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(2)|p.S372S(1) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCCAAAATCTTGGAGTGCCCAA 0.416 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 6 27 0 0 0 0 AP1B1 162 broad.mit.edu 37 22 29737728 29737728 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr22:29737728G>A uc003afj.2 - 13 1742 c.1558C>T c.(1558-1560)CGG>TGG p.R520W AP1B1_uc003afi.2_Missense_Mutation_p.R520W|AP1B1_uc003afk.2_Missense_Mutation_p.R520W|AP1B1_uc003afl.2_Missense_Mutation_p.R520W|AP1B1_uc011ako.1_Missense_Mutation_p.R73W NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 520 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 CCACGGTCCCGCAGGTCTGGG 0.597 NA 20 36 0 0 0 0 HRH1 3269 broad.mit.edu 37 3 11300945 11300945 + Silent SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr3:11300945G>A uc010hdr.2 + 2 564 c.222G>A c.(220-222)TTG>TTA p.L74L HRH1_uc010hds.2_Silent_p.L74L|HRH1_uc010hdt.2_Silent_p.L74L|HRH1_uc003bwb.3_Silent_p.L74L NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 74 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TGGCGGACTTGATCGTGGGTG 0.577 NA 13 97 0 0 0 0 GALNTL2 117248 broad.mit.edu 37 3 16216900 16216900 + Missense_Mutation SNP T T C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr3:16216900T>C uc003car.3 + 1 717 c.242T>C c.(241-243)CTG>CCG p.L81P GALNTL2_uc003caq.3_Intron NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 81 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 TACAGCCCTCTGGAGGGCCTG 0.617 NA 4 64 0 0 0 0 CD200R1L 344807 broad.mit.edu 37 3 112538730 112538730 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr3:112538730G>A uc003dzi.1 - 5 918 c.692C>T c.(691-693)TCA>TTA p.S231L CD200R1L_uc011bhw.1_Missense_Mutation_p.S210L|CD200R1L_uc010hqf.1_Missense_Mutation_p.S210L NM_001008784 NP_001008784 Q6Q8B3 MO2R2_HUMAN CD200 cell surface glycoprotein receptor 2 231 Extracellular (Potential). integral to membrane receptor activity ovary(1) 1 TGGAGATCCTGAGGTTCTGAG 0.353 NA 8 58 0 0 0 0 ZXDC 79364 broad.mit.edu 37 3 126180734 126180734 + Silent SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr3:126180734G>A uc003eiv.2 - 6 1825 c.1771C>T c.(1771-1773)CTG>TTG p.L591L ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.L591L NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 591 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) CCCTGCTGCAGAACCGTGGCT 0.602 NA 23 90 0 0 0 0 ATP13A3 79572 broad.mit.edu 37 3 194126832 194126832 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr3:194126832C>T uc003fty.3 - 32 3899 c.3497G>A c.(3496-3498)CGG>CAG p.R1166Q ATP13A3_uc003ftx.3_Missense_Mutation_p.R75Q NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 1166 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TTTTCCCCACCGATCCACTGA 0.433 NA 7 61 0 0 0 0 GK2 2712 broad.mit.edu 37 4 80328273 80328273 + Missense_Mutation SNP A A G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr4:80328273A>G uc003hlu.2 - 1 1100 c.1082T>C c.(1081-1083)GTC>GCC p.V361A NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 361 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 AAAGGCTGGGACAAAGTAACA 0.413 NA 17 89 0 0 0 0 HADH 3033 broad.mit.edu 37 4 108935703 108935703 + Silent SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr4:108935703G>A uc003hyq.2 + 3 527 c.378G>A c.(376-378)GTG>GTA p.V126V HADH_uc010ilx.2_Silent_p.V126V|HADH_uc010ily.2_Intron|HADH_uc003hyr.2_Silent_p.V130V NM_005327 NP_005318 Q16836 HCDH_HUMAN L-3-hydroxyacyl-Coenzyme A dehydrogenase 126 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) ATCTGAAGGTGAAAAACGAGC 0.438 NA 19 87 0 0 0 0 C4orf49 84709 broad.mit.edu 37 4 140196504 140196504 + Missense_Mutation SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr4:140196504G>C uc003ihr.1 - 2 305 c.125C>G c.(124-126)TCT>TGT p.S42C NM_032623 NP_116012 Q8TDB4 CD049_HUMAN ovary-specific acidic protein 42 Helical; (Potential). integral to membrane central_nervous_system(1)|skin(1) 2 ATTTGATCCAGATGATCCAGG 0.368 NA 3 53 0 0 0 0 FHDC1 85462 broad.mit.edu 37 4 153897721 153897721 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr4:153897721G>A uc003inf.2 + 11 3353 c.3278G>A c.(3277-3279)CGG>CAG p.R1093Q NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1093 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) AGCAGTGCCCGGGCCCCCAAG 0.682 NA 5 29 0 0 0 0 CCDC125 202243 broad.mit.edu 37 5 68616363 68616363 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr5:68616363C>T uc003jvv.1 - 1 48 c.5G>A c.(4-6)AGC>AAC p.S2N CCDC125_uc003jvx.1_Missense_Mutation_p.S2N|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Missense_Mutation_p.S2N NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 2 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TGCCACCTTGCTCATGAGCCA 0.393 NA 13 60 0 0 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866446 140866446 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr5:140866446G>A uc003lky.1 + 1 1706 c.1706G>A c.(1705-1707)CGG>CAG p.R569Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.R569Q|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 569 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCGTCCTCGGGCCCGGCCT 0.572 NA 30 101 0 0 0 0 PDGFRB 5159 broad.mit.edu 37 5 149516594 149516594 + Missense_Mutation SNP G G A rs150173975 byFrequency TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr5:149516594G>A uc003lro.2 - 2 486 c.17C>T c.(16-18)GCG>GTG p.A6V PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.A6V NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 6 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AGCTGGCATCGCACCCGGAAG 0.642 NA T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 11 45 0 0 0 0 C6orf106 64771 broad.mit.edu 37 6 34614452 34614452 + Missense_Mutation SNP A A C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr6:34614452A>C uc003ojr.2 - 3 682 c.437T>G c.(436-438)ATG>AGG p.M146R C6orf106_uc003ojs.2_Intron NM_024294 NP_077270 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 isoform a 146 skin(2)|ovary(1) 3 GGGGCTGCACATCTGGACGCT 0.522 NA 18 234 0 0 0 0 FGD2 221472 broad.mit.edu 37 6 36989314 36989314 + Silent SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr6:36989314C>T uc010jwp.1 + 12 1431 c.1260C>T c.(1258-1260)ATC>ATT p.I420I FGD2_uc003ong.2_Silent_p.I142I|FGD2_uc011dtv.1_Silent_p.I48I|FGD2_uc003onj.1_5'Flank NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 420 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding upper_aerodigestive_tract(1)|lung(1)|pancreas(1) 3 TTGACCAAATCGAGAAGCGGA 0.597 NA OREG0017395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 26 0 0 0 0 LRFN2 57497 broad.mit.edu 37 6 40360623 40360623 + Missense_Mutation SNP C C T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr6:40360623C>T uc003oph.1 - 3 1894 c.1429G>A c.(1429-1431)GTG>ATG p.V477M NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 477 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TTGTTGACCACGAAGGCCTTG 0.557 NA 3 34 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152832220 152832220 + Missense_Mutation SNP T T A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr6:152832220T>A uc010kiw.2 - 7 930 c.328A>T c.(328-330)AAC>TAC p.N110Y SYNE1_uc003qot.3_Missense_Mutation_p.N117Y|SYNE1_uc003qou.3_Missense_Mutation_p.N110Y|SYNE1_uc010kjb.1_Missense_Mutation_p.N110Y|SYNE1_uc003qpa.1_Missense_Mutation_p.N110Y NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 110 Actin-binding.|Cytoplasmic (Potential).|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCGGTGGAGTTAATGTTGACT 0.328 NA HNSCC(10;0.0054) 32 109 0 0 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22190076 22190076 + Silent SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr7:22190076G>C uc003svg.2 - 18 1687 c.1374C>G c.(1372-1374)CTC>CTG p.L458L RAPGEF5_uc011jyl.1_Silent_p.L139L NM_012294 NP_036426 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 308 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity ovary(1) 1 CAGATGCCTCGAGGGATTTGG 0.343 NA 10 121 0 0 0 0 OGDH 4967 broad.mit.edu 37 7 44684960 44684960 + Missense_Mutation SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr7:44684960G>C uc003tln.2 + 3 366 c.257G>C c.(256-258)GGA>GCA p.G86A OGDH_uc003tlm.2_Missense_Mutation_p.G86A|OGDH_uc011kbx.1_Missense_Mutation_p.G86A|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Missense_Mutation_p.G86A|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 86 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) ACGAATGCCGGAGCCCCACCG 0.582 NA 21 162 0 0 0 0 MYO1G 64005 broad.mit.edu 37 7 45010561 45010561 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr7:45010561G>A uc003tmh.2 - 8 1088 c.944C>T c.(943-945)ACG>ATG p.T315M MYO1G_uc003tmf.2_5'Flank|MYO1G_uc003tmg.2_Missense_Mutation_p.T77M|MYO1G_uc010kym.2_Missense_Mutation_p.T200M|MYO1G_uc003tmi.1_Missense_Mutation_p.T227M|MYO1G_uc003tmj.2_Missense_Mutation_p.T77M NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 315 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 GGGTGTGGCCGTCAGCTCAGC 0.657 NA 9 36 0 0 0 0 PEX1 5189 broad.mit.edu 37 7 92146635 92146635 + Missense_Mutation SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr7:92146635G>C uc003uly.2 - 5 1290 c.1194C>G c.(1192-1194)ATC>ATG p.I398M PEX1_uc011khr.1_Missense_Mutation_p.I190M|PEX1_uc010ley.2_Missense_Mutation_p.I398M|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 398 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TGGTATATTTGATGGCATTGT 0.343 NA 22 110 0 0 0 0 CBWD1 55871 broad.mit.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr9:164038C>G uc003zga.3 - 5 537 c.431_splice c.e5-1 p.G144_splice CBWD1_uc010mgs.2_Splice_Site|CBWD1_uc003zgb.3_Splice_Site_p.G108_splice|CBWD1_uc003zgc.3_Splice_Site_p.G144_splice|CBWD1_uc011llr.1_Splice_Site_p.G108_splice NM_018491 NP_060961 Q9BRT8 CBWD1_HUMAN COBW domain containing 1 isoform 1 ATP binding|protein binding ovary(1) 1 all_lung(41;0.218) all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCCACTGCACCTGAAAATATA 0.269 NA 3 55 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr9:21971186G>A uc003zpk.2 - 2 384 c.172C>T c.(172-174)CGA>TGA p.R58* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 58 ANK 2. 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.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(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) TCCGCCACTCGGGCGCTGCCC 0.677 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) 12 7 0 0 0 0 CHMP5 51510 broad.mit.edu 37 9 33276501 33276501 + Missense_Mutation SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr9:33276501C>G uc003zsl.3 + 7 790 c.435C>G c.(433-435)ATC>ATG p.I145M SUGT1P1_uc010mjq.1_Intron|CHMP5_uc003zsm.3_Missense_Mutation_p.I145M|CHMP5_uc011lnv.1_Missense_Mutation_p.I145M NM_016410 NP_057494 Q9NZZ3 CHMP5_HUMAN chromatin modifying protein 5 145 Potential.|Interaction with VTA1. cellular membrane organization|protein transport cytosol|endosome membrane protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) CAAATGAAATCCAAGAAGCAC 0.358 NA 10 68 0 0 0 0 UNC13B 10497 broad.mit.edu 37 9 35389842 35389842 + Splice_Site SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr9:35389842G>C uc003zwq.2 + 24 3140 c.2848_splice c.e24-1 p.K950_splice UNC13B_uc003zwr.2_Splice_Site_p.K950_splice NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TCTGGATCAAGAAGCAGGAGC 0.498 NA 18 196 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35724572 35724572 + Missense_Mutation SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr9:35724572C>G uc003zxt.2 - 5 862 c.508G>C c.(508-510)GAG>CAG p.E170Q TLN1_uc003zxu.3_Missense_Mutation_p.E170Q NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 170 FERM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGCTTACACTCATCATCTGTG 0.333 NA 244 170 0 0 0 0 ANXA1 301 broad.mit.edu 37 9 75775272 75775272 + Nonsense_Mutation SNP G G T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr9:75775272G>T uc004ajf.1 + 5 438 c.364G>T c.(364-366)GAA>TAA p.E122* ANXA1_uc004aje.1_Nonsense_Mutation_p.E122*|ANXA1_uc004ajg.1_Nonsense_Mutation_p.E122* NM_000700 NP_000691 P04083 ANXA1_HUMAN annexin I 122 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1) 2 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) TGATGCTGATGAACTTCGTGC 0.373 NA 14 114 7.93e-07 9.73e-07 1 0 BAAT 570 broad.mit.edu 37 9 104130542 104130542 + Missense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr9:104130542G>A uc010mtd.2 - 3 638 c.529C>T c.(529-531)CGG>TGG p.R177W BAAT_uc004bbd.3_Missense_Mutation_p.R177W NM_001127610 NP_001121082 Q14032 BAAT_HUMAN bile acid Coenzyme A: amino acid 177 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) AGGCTGGCCCGAAATTCAAGC 0.478 NA 7 42 0 0 0 0 ABCA1 19 broad.mit.edu 37 9 107591238 107591238 + Missense_Mutation SNP G G T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr9:107591238G>T uc004bcl.2 - 15 2387 c.2074C>A c.(2074-2076)CCT>ACT p.P692T NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 692 Helical; (Potential). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACAAGAAGAGGAATGAGGCTA 0.542 NA 10 45 1.09e-07 1.34e-07 1 0 OR1B1 347169 broad.mit.edu 37 9 125391138 125391138 + Missense_Mutation SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr9:125391138C>G uc011lyz.1 - 1 677 c.677G>C c.(676-678)CGA>CCA p.R226P NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGCCCCAATTCGGACATAAGA 0.542 NA 5 79 0 0 0 0 FAM47B 170062 broad.mit.edu 37 X 34961479 34961479 + Silent SNP C C T rs149160457 TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chrX:34961479C>T uc004ddi.1 + 1 549 c.531C>T c.(529-531)ACC>ACT p.T177T NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 177 ovary(3)|breast(1) 4 AGGTACCCACCGAGTCTGGTA 0.612 NA 11 22 0 0 0 0 MAOA 4128 broad.mit.edu 37 X 43601196 43601196 + Splice_Site SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chrX:43601196G>C uc004dfy.2 + 12 1346 c.1165_splice c.e12-1 p.P389_splice MAOA_uc011mkw.1_Splice_Site_p.P256_splice NM_000240 NP_000231 P21397 AOFA_HUMAN monoamine oxidase A behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding breast(2)|ovary(1) 3 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) CTGAACTGCAGCCAGTGCATT 0.423 NA 5 17 0 0 0 0 PRAF2 11230 broad.mit.edu 37 X 48931479 48931479 + Silent SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chrX:48931479G>A uc004dmi.2 - 1 184 c.168C>T c.(166-168)CTC>CTT p.L56L PRAF2_uc004dmh.2_5'Flank|PRAF2_uc011mmt.1_Intron NM_007213 NP_009144 O60831 PRAF2_HUMAN PRA1 domain family, member 2 56 Helical; (Potential). L-glutamate transport|protein transport endosome membrane|integral to membrane 0 CGGCGAGAGCGAGGCCGATGC 0.647 NA 19 24 0 0 0 0 GLRA4 441509 broad.mit.edu 37 X 102979135 102979135 + Missense_Mutation SNP G G T TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chrX:102979135G>T uc011mse.1 - 4 786 c.365C>A c.(364-366)TCC>TAC p.S122Y GLRA4_uc010nou.2_Missense_Mutation_p.S122Y NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 122 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 GTCCAGCATGGAGGGATCGAG 0.527 NA 49 53 1.02e-35 1.32e-35 1 0 IGSF1 3547 broad.mit.edu 37 X 130409171 130409171 + Missense_Mutation SNP G G C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chrX:130409171G>C uc004ewd.2 - 17 3512 c.3274C>G c.(3274-3276)CCA>GCA p.P1092A IGSF1_uc004ewe.3_Missense_Mutation_p.P1086A|IGSF1_uc004ewf.2_Missense_Mutation_p.P1072A NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1092 Extracellular (Potential).|Ig-like C2-type 11. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 GTTGAGTCTGGCAGTTCCCCT 0.547 NA 7 132 0 0 0 0 ARHGAP4 393 broad.mit.edu 37 X 153175297 153175297 + Missense_Mutation SNP T T C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chrX:153175297T>C uc004fjk.1 - 19 2354 c.2312A>G c.(2311-2313)GAC>GGC p.D771G ARHGAP4_uc004fjj.1_Missense_Mutation_p.D122G|ARHGAP4_uc011mzf.1_Missense_Mutation_p.D748G|ARHGAP4_uc004fjl.1_Missense_Mutation_p.D811G|ARHGAP4_uc010nup.1_RNA NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 771 SH3. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGCAGTACGTCCCCCCGCCG 0.701 NA 2 3 0 0 0 0 IRAK1 3654 broad.mit.edu 37 X 153284101 153284101 + Silent SNP C C A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chrX:153284101C>A uc004fjs.1 - 5 757 c.678G>T c.(676-678)GTG>GTT p.V226V IRAK1_uc004fjr.1_Silent_p.V226V|IRAK1_uc004fjt.1_Silent_p.V226V|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Silent_p.V252V NM_001569 NP_001560 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 226 ATP (By similarity).|Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity lung(5)|ovary(2)|breast(1)|central_nervous_system(1) 9 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGCCCGGTACACGCACCCAA 0.612 NA 51 70 1.66e-12 2.09e-12 1 0 EMD 2010 broad.mit.edu 37 X 153608360 153608360 + Silent SNP T T A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chrX:153608360T>A uc004fkl.2 + 3 494 c.246T>A c.(244-246)GCT>GCA p.A82A NM_000117 NP_000108 P50402 EMD_HUMAN emerin 82 Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGAGGACGCTTTACTCTACC 0.557 NA 63 78 0 0 0 0 GATAD2B 57459 broad.mit.edu 37 1 153790617 153790618 + Frame_Shift_Ins INS - - A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:153790617_153790618insA uc001fdb.3 - 5 871_872 c.627_628insT c.(625-630)ATTGTTfs p.I209fs NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 209_210 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GATGGCTGAACAATAGATGCTG 0.475 NA 26 126 --- --- --- --- NA NA NA NA IVNS1ABP 10625 broad.mit.edu 37 1 185274695 185274696 + Frame_Shift_Ins INS - - CT TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr1:185274695_185274696insCT uc001grl.2 - 8 1360_1361 c.737_738insAG c.(736-738)AGTfs p.S246fs IVNS1ABP_uc001grj.2_5'UTR|IVNS1ABP_uc009wyj.2_Frame_Shift_Ins_p.S28fs|IVNS1ABP_uc009wyk.2_RNA NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 246 Sufficient for AHR interaction and signaling. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 GGTCATCATCACTGCCAAACAC 0.416 NA 11 67 --- --- --- --- NA NA NA NA CYTSB 92521 broad.mit.edu 37 17 20109115 20109115 + Frame_Shift_Del DEL A A - TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr17:20109115delA uc002gwq.2 + 4 1898 c.1753delA c.(1753-1755)AAAfs p.K585fs CYTSB_uc010cqx.2_Frame_Shift_Del_p.K585fs|CYTSB_uc002gwr.2_Frame_Shift_Del_p.K585fs|CYTSB_uc002gws.2_Frame_Shift_Del_p.K585fs|CYTSB_uc002gwv.2_Frame_Shift_Del_p.K504fs|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Frame_Shift_Del_p.K361fs|CYTSB_uc002gwt.2_Frame_Shift_Del_p.K504fs|CYTSB_uc002gwu.2_Frame_Shift_Del_p.K504fs NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 585 Potential. nucleus 0 AGAAATGTTGAAAGTAGCCCG 0.458 NA 20 74 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187629576 187629580 + Frame_Shift_Del DEL TTGTA TTGTA - TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr4:187629576_187629580delTTGTA uc003izf.2 - 2 1590_1594 c.1402_1406delTACAA c.(1402-1407)TACAAAfs p.Y468fs FAT1_uc010iso.1_Frame_Shift_Del_p.Y468fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 468_469 Extracellular (Potential).|Cadherin 4. 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 AAAAGCAGCTTTGTACGCTGTCTGG 0.473 NA HNSCC(5;0.00058) 50 210 --- --- --- --- NA NA NA NA WRNIP1 56897 broad.mit.edu 37 6 2766468 2766469 + Frame_Shift_Ins INS - - GGGG rs148900120 by1000genomes TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr6:2766468_2766469insGGGG uc003mtz.2 + 1 803_804 c.612_613insGGGG c.(610-615)GGCGGGfs p.G204fs WRNIP1_uc003mua.2_Frame_Shift_Ins_p.G204fs NM_020135 NP_064520 Q96S55 WRIP1_HUMAN Werner helicase interacting protein isoform 1 204_205 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding ovary(1)|pancreas(1) 2 Ovarian(93;0.0412) all_hematologic(90;0.0895) GGGCCAGTggcgggggccgccc 0.465 NA 4 7 --- --- --- --- NA NA NA NA DOPEY1 23033 broad.mit.edu 37 6 83832654 83832656 + In_Frame_Del DEL TTA TTA - TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr6:83832654_83832656delTTA uc003pjs.1 + 12 1553_1555 c.1293_1295delTTA c.(1291-1296)CCTTAT>CCT p.Y433del DOPEY1_uc011dyy.1_In_Frame_Del_p.Y424del|DOPEY1_uc010kbl.1_In_Frame_Del_p.Y424del NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 433 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CCTTCGAACCTTATTATATGTGG 0.315 NA 7 20 --- --- --- --- NA NA NA NA DNAH11 8701 broad.mit.edu 37 7 21609805 21609806 + Frame_Shift_Ins INS - - A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr7:21609805_21609806insA uc003svc.2 + 7 1344_1345 c.1313_1314insA c.(1312-1314)AGAfs p.R438fs NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 438 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTCAACTATAGAAAAAAATTGG 0.391 NA Kartagener_syndrome 11 66 --- --- --- --- NA NA NA NA ELN 2006 broad.mit.edu 37 7 73474233 73474250 + In_Frame_Del DEL GGCGTGGCTCCTGGAGTT GGCGTGGCTCCTGGAGTT - TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f4ca6755-68ca-4702-b08b-65005d31e9be 34dbe31b-1d26-47b3-b6f7-bad6d590e415 g.chr7:73474233_73474250delGGCGTGGCTCCTGGAGTT uc003tzw.2 + 23 1541_1558 c.1450_1467delGGCGTGGCTCCTGGAGTT c.(1450-1467)GGCGTGGCTCCTGGAGTTdel p.GVAPGV496del RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_In_Frame_Del_p.GVAPGV490del|ELN_uc003tzz.2_In_Frame_Del_p.GVAPGV409del|ELN_uc003tzo.2_In_Frame_Del_p.GVAPGV457del|ELN_uc003tzp.2_In_Frame_Del_p.GVAPGV401del|ELN_uc003tzq.2_In_Frame_Del_p.GVAPGV354del|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_In_Frame_Del_p.GVAPGV471del|ELN_uc003tzt.2_In_Frame_Del_p.GVAPGV495del|ELN_uc003tzu.2_In_Frame_Del_p.GVAPGV476del|ELN_uc003tzv.2_In_Frame_Del_p.GVAPGV461del|ELN_uc003tzx.2_In_Frame_Del_p.GVAPGV480del|ELN_uc011kff.1_In_Frame_Del_p.GVAPGV490del|ELN_uc003tzy.2_In_Frame_Del_p.GVAPGV466del NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 519_524 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) TCCTGGTGTCGGCGTGGCTCCTGGAGTTGGCGTGGCTC 0.472 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 80 366 --- --- --- --- NA NA NA NA