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 SAMD11 148398 broad.mit.edu 37 1 866467 866467 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:866467C>T uc001abw.1 + 4 383 c.303C>T c.(301-303)TGC>TGT p.C101C SAMD11_uc001abv.1_Silent_p.C101C NM_152486 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 101 nucleus 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;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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) AGGCGTCCTGCAGGTAGGAGC 0.637 NA 21 31 0 0 0 0 MIIP 60672 broad.mit.edu 37 1 12081875 12081875 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:12081875C>T uc001ato.1 + 2 272 c.92C>T c.(91-93)TCA>TTA p.S31L NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN invasion inhibitory protein 45 31 ovary(1) 1 GTGCGGCGGTCAGTGGCCAGG 0.612 NA 5 27 0 0 0 0 USP48 84196 broad.mit.edu 37 1 22030033 22030033 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:22030033T>A uc001bfb.2 - 21 2832 c.2594A>T c.(2593-2595)TAT>TTT p.Y865F USP48_uc001bfa.2_Missense_Mutation_p.Y403F|USP48_uc010odq.1_Missense_Mutation_p.Y877F|USP48_uc009vqc.2_Missense_Mutation_p.Y799F|USP48_uc001bfc.2_Missense_Mutation_p.Y865F|USP48_uc001bfd.1_Intron NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 865 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TTTATGGACATAGATGGTGGC 0.428 NA 65 126 0 0 0 0 USP1 7398 broad.mit.edu 37 1 62907261 62907261 + Silent SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:62907261T>C uc001daj.1 + 3 601 c.273T>C c.(271-273)TAT>TAC p.Y91Y USP1_uc001dak.1_Silent_p.Y91Y|USP1_uc001dal.1_Silent_p.Y91Y NM_001017415 NP_001017415 O94782 UBP1_HUMAN ubiquitin specific protease 1 91 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) ATACTTGCTATCTTAATAGTA 0.343 NA 31 36 0 0 0 0 RWDD3 25950 broad.mit.edu 37 1 95710106 95710106 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:95710106C>G uc009wdu.2 + 2 501 c.425C>G c.(424-426)ACT>AGT p.T142S RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.T127S|RWDD3_uc009wdt.2_Missense_Mutation_p.T142S|RWDD3_uc001drf.3_Missense_Mutation_p.T142S|RWDD3_uc001drh.3_Missense_Mutation_p.T127S|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.T142S NM_015485 NP_056300 Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 isoform a 142 cytoplasm|nucleus protein binding ovary(1) 1 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) TTGTGGATAACTCTTTTGCAT 0.418 NA 12 59 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103345461 103345461 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:103345461T>A uc001dul.2 - 66 5370 c.5052A>T c.(5050-5052)TTA>TTT p.L1684F COL11A1_uc001duk.2_Missense_Mutation_p.L880F|COL11A1_uc001dum.2_Missense_Mutation_p.L1696F|COL11A1_uc001dun.2_Missense_Mutation_p.L1645F|COL11A1_uc009weh.2_Missense_Mutation_p.L1568F NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1684 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTCAACATCTAAGTATGAAA 0.378 NA 11 23 0 0 0 0 PTGFRN 5738 broad.mit.edu 37 1 117484584 117484584 + Silent SNP C C T rs149801733 TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:117484584C>T uc001egv.1 + 2 434 c.297C>T c.(295-297)AAC>AAT p.N99N NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 99 Extracellular (Potential).|Ig-like C2-type 1. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GGACTGCCAACGACGCCGTGG 0.587 NA 5 27 0 0 0 0 NBPF9 400818 broad.mit.edu 37 1 144619881 144619881 + Splice_Site SNP A A C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:144619881A>C uc009wig.1 + 8 643 c.567_splice c.e8-2 p.R189_splice NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Splice_Site_p.R189_splice|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Splice_Site_p.R120_splice|NBPF9_uc001eli.3_Splice_Site|NBPF9_uc010oyf.1_Splice_Site_p.R120_splice|NBPF9_uc010oyg.1_Splice_Site_p.R154_splice|NBPF9_uc009wii.1_Splice_Site NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 cytoplasm 0 CTGGCTCATCAGGGAGGTGCA 0.522 NA 19 801 0 0 0 0 BCL9 607 broad.mit.edu 37 1 147096739 147096739 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:147096739C>T uc001epq.2 + 10 5000 c.4260C>T c.(4258-4260)AAC>AAT p.N1420N BCL9_uc010ozr.1_Silent_p.N1334N NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1420 Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) GACCTGGCAACCCAGGAAACA 0.542 NA T IGH@|IGL@ B-ALL 18 15 0 0 0 0 DCAF6 55827 broad.mit.edu 37 1 167973999 167973999 + Missense_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:167973999A>T uc001gew.2 + 10 1588 c.1346A>T c.(1345-1347)GAG>GTG p.E449V DCAF6_uc001gev.2_Missense_Mutation_p.E449V|DCAF6_uc001gex.2_Missense_Mutation_p.E449V|DCAF6_uc010plk.1_Missense_Mutation_p.E418V|DCAF6_uc001gey.2_Missense_Mutation_p.E302V NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 449 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 CAGTCTGTTGAGGCATCTGGA 0.373 NA 36 14 0 0 0 0 ZBTB37 84614 broad.mit.edu 37 1 173839375 173839375 + Silent SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:173839375T>C uc009wwp.1 + 3 288 c.12T>C c.(10-12)GGT>GGC p.G4G GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Silent_p.G4G|ZBTB37_uc001gjq.3_Silent_p.G4G|ZBTB37_uc001gjr.2_Silent_p.G4G NM_001122770 NP_001116242 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 isoform 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGGAGAAAGGTGGGAACATAC 0.443 NA 16 22 0 0 0 0 EPRS 2058 broad.mit.edu 37 1 220206926 220206926 + Silent SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:220206926G>C uc001hly.1 - 4 576 c.306C>G c.(304-306)CTC>CTG p.L102L EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Silent_p.L102L|EPRS_uc009xdt.1_5'UTR NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 102 glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) GGCAATGATTGAGTTCATTAA 0.343 NA 20 77 0 0 0 0 DISP1 84976 broad.mit.edu 37 1 223179194 223179194 + Silent SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:223179194A>G uc001hnu.1 + 8 4602 c.4455A>G c.(4453-4455)AGA>AGG p.R1485R NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1485 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) GTTGTGGCAGAATTGTGAGAG 0.408 NA 12 61 0 0 0 0 LYST 1130 broad.mit.edu 37 1 235860530 235860530 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:235860530C>T uc001hxj.2 - 46 10592 c.10417G>A c.(10417-10419)GTG>ATG p.V3473M LYST_uc001hxi.2_Missense_Mutation_p.V697M NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3473 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGGGAACCCACGTATTCCCCC 0.468 NA Chediak-Higashi_syndrome 50 13 0 0 0 0 GTPBP4 23560 broad.mit.edu 37 10 1038576 1038576 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr10:1038576C>G uc001ift.2 + 2 267 c.196C>G c.(196-198)CTA>GTA p.L66V GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_5'UTR|GTPBP4_uc010qae.1_Missense_Mutation_p.L19V NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 66 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) TTCACAAATTCTAACAGATTT 0.343 NA 15 24 0 0 0 0 PRKG1 5592 broad.mit.edu 37 10 54040637 54040637 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr10:54040637A>G uc001jjm.2 + 13 1641 c.1447A>G c.(1447-1449)AGG>GGG p.R483G PRKG1_uc001jjo.2_Missense_Mutation_p.R498G|PRKG1_uc009xow.1_Missense_Mutation_p.R201G|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 483 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) AATCATTTACAGGGACCTCAA 0.423 NA 3 82 0 0 0 0 SGPL1 8879 broad.mit.edu 37 10 72610941 72610941 + Missense_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr10:72610941A>T uc001jrm.2 + 4 457 c.235A>T c.(235-237)AGG>TGG p.R79W NM_003901 NP_003892 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 79 Cytoplasmic (Potential). apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity 0 Pyridoxal Phosphate(DB00114) TAAGCTCACCAGGAAGATGCC 0.328 NA 28 45 0 0 0 0 SMC3 9126 broad.mit.edu 37 10 112363045 112363045 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr10:112363045T>A uc001kze.2 + 28 3705 c.3579T>A c.(3577-3579)AAT>AAA p.N1193K NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 1193 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AGTTCAGAAATAAGGTAATTT 0.279 NA 10 18 0 0 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995517 57995517 + Silent SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:57995517G>A uc010rkd.1 - 1 831 c.831C>T c.(829-831)AGC>AGT p.S277S NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) ACGCGATTTGGCTGTCCTCAT 0.557 NA 28 60 0 0 0 0 RSF1 51773 broad.mit.edu 37 11 77411780 77411780 + Missense_Mutation SNP A A C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:77411780A>C uc001oyn.2 - 6 2614 c.2494T>G c.(2494-2496)TCT>GCT p.S832A RSF1_uc001oym.2_Missense_Mutation_p.S580A NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 832 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CTTACTTTAGAATTTGTATCT 0.284 NA 24 16 0 0 0 0 MAML2 84441 broad.mit.edu 37 11 95825060 95825060 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:95825060C>G uc001pfw.1 - 2 3420 c.2135G>C c.(2134-2136)AGA>ACA p.R712T NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 712 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CCTTACCTGTCTCTGTTGTTG 0.443 NA T MECT1|CRTC3 salivary gland mucoepidermoid 9 6 0 0 0 0 PDGFD 80310 broad.mit.edu 37 11 103780424 103780424 + Nonstop_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:103780424A>T uc001phq.2 - 7 1483 c.1111T>A c.(1111-1113)TAA>AAA p.*371K PDGFD_uc001php.2_Nonstop_Mutation_p.*365K NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 371 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) ACATTCTCTTATCGAGGTGGT 0.443 NA 10 68 0 0 0 0 VSIG2 23584 broad.mit.edu 37 11 124618415 124618415 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:124618415C>G uc001qas.2 - 6 798 c.722G>C c.(721-723)CGA>CCA p.R241P VSIG2_uc001qat.2_Missense_Mutation_p.R241P NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 241 Extracellular (Potential). integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) TCCGGCCACTCGGCCTTGGGA 0.607 NA 25 13 0 0 0 0 STT3A 3703 broad.mit.edu 37 11 125479465 125479465 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:125479465C>T uc001qcd.2 + 10 1208 c.1098C>T c.(1096-1098)CTC>CTT p.L366L STT3A_uc009zbm.2_Silent_p.L366L|STT3A_uc001qce.2_Silent_p.L366L|STT3A_uc010sbg.1_Silent_p.L274L|STT3A_uc009zbn.2_Intron NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 366 Helical; (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) ACCTGCAGCTCCTCGTCTTCA 0.453 NA 37 31 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9307319 9307319 + Missense_Mutation SNP G G T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:9307319G>T uc001qvl.2 - 29 3696 c.3667C>A c.(3667-3669)CTC>ATC p.L1223I PZP_uc009zgl.2_Missense_Mutation_p.L1009I NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TGGGCCGTGAGATAAGCGAGG 0.582 NA 20 26 3.62e-10 1.02e-09 1 0 KRT86 3892 broad.mit.edu 37 12 52699946 52699946 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:52699946A>G uc010snq.1 + 8 1262 c.1129A>G c.(1129-1131)AAG>GAG p.K377E KRT86_uc009zmg.2_Missense_Mutation_p.K377E|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.K377E NM_002284 NP_002275 O43790 KRT86_HUMAN keratin 86 377 Rod.|Coil 2. cytoskeleton organization keratin filament structural molecule activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.189) TGCCCTGCAGAAGGCCAAGCA 0.642 NA OREG0021845 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 76 0 0 0 0 TMEM194A 23306 broad.mit.edu 37 12 57457026 57457026 + Silent SNP G G A rs148717635 byFrequency TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:57457026G>A uc001smy.2 - 7 902 c.856C>T c.(856-858)CTG>TTG p.L286L TMEM194A_uc001smx.2_Silent_p.L213L|TMEM194A_uc010sra.1_Silent_p.L27L NM_001130963 NP_001124435 O14524 T194A_HUMAN transmembrane protein 194A isoform a 286 integral to membrane 0 AGGCCCATCAGCTGCAAGGTC 0.443 NA 52 81 0 0 0 0 AGAP2 116986 broad.mit.edu 37 12 58124681 58124681 + Missense_Mutation SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:58124681T>G uc001spq.2 - 11 2201 c.2201A>C c.(2200-2202)AAA>ACA p.K734T AGAP2_uc001spp.2_Missense_Mutation_p.K734T|AGAP2_uc001spr.2_Missense_Mutation_p.K398T NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 734 PH. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 GCCCGGGACTTTGACTGTTGT 0.592 NA 3 7 0 0 0 0 XPOT 11260 broad.mit.edu 37 12 64828639 64828639 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:64828639C>G uc001ssb.2 + 21 3061 c.2635C>G c.(2635-2637)CTA>GTA p.L879V NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 879 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) CGCATGTTTCCTAGCACCTTT 0.378 NA 36 59 0 0 0 0 GRIP1 23426 broad.mit.edu 37 12 66932903 66932903 + Nonsense_Mutation SNP C C A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:66932903C>A uc001stk.2 - 4 614 c.373G>T c.(373-375)GGA>TGA p.G125* GRIP1_uc010sta.1_Nonsense_Mutation_p.G69*|GRIP1_uc001stl.1_Nonsense_Mutation_p.G69*|GRIP1_uc001stm.2_Nonsense_Mutation_p.G125* NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 125 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) ACTCTTTCTCCCACATTCTTC 0.363 NA 41 89 6.49e-15 1.88e-14 1 0 PTPRB 5787 broad.mit.edu 37 12 70983891 70983891 + Missense_Mutation SNP C C A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:70983891C>A uc001swb.3 - 6 1279 c.1249G>T c.(1249-1251)GTG>TTG p.V417L PTPRB_uc010sto.1_Missense_Mutation_p.V417L|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Missense_Mutation_p.V635L|PTPRB_uc001swa.3_Missense_Mutation_p.V635L|PTPRB_uc001swd.3_Missense_Mutation_p.V634L|PTPRB_uc009zrr.1_Missense_Mutation_p.V514L NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 417 Fibronectin type-III 5.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCAGCACCACAGAATCATTG 0.512 NA OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 78 2.43e-25 7.15e-25 1 0 DNAH10 196385 broad.mit.edu 37 12 124270320 124270320 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:124270320G>A uc001uft.3 + 9 1100 c.1075G>A c.(1075-1077)GTG>ATG p.V359M NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 359 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGGCTTCCACGTGGTCCTGGA 0.537 NA 23 46 0 0 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20221396 20221396 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr13:20221396G>A uc001umh.2 + 3 1192 c.1183G>A c.(1183-1185)GAG>AAG p.E395K MPHOSPH8_uc001umf.1_Missense_Mutation_p.E395K|MPHOSPH8_uc001umg.2_Missense_Mutation_p.E395K|MPHOSPH8_uc001umi.2_Missense_Mutation_p.E92K NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 395 cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) GAGCGGGGAAGAGAGAGGCCT 0.542 NA 5 48 0 0 0 0 OLFM4 10562 broad.mit.edu 37 13 53624472 53624472 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr13:53624472G>A uc001vhl.2 + 5 1099 c.1099G>A c.(1099-1101)GCT>ACT p.A367T OLFM4_uc001vhk.1_3'UTR NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 367 Olfactomedin-like. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) TCTCCCTAATGCTGCCTATAA 0.408 NA 32 46 0 0 0 0 JUB 84962 broad.mit.edu 37 14 23447583 23447583 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr14:23447583G>A uc001whz.2 - 2 1454 c.1078C>T c.(1078-1080)CAC>TAC p.H360Y JUB_uc001why.2_5'Flank NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 360 LIM zinc-binding 1. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) CACTGGGTGTGGTAGAGGCTG 0.527 NA 77 24 0 0 0 0 MDGA2 161357 broad.mit.edu 37 14 47351355 47351355 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr14:47351355T>A uc001wwj.3 - 11 2297 c.2101A>T c.(2101-2103)ACA>TCA p.T701S MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.T472S|MDGA2_uc010ani.2_Missense_Mutation_p.T261S NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 701 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 AAGTTATATGTAATTAATTCT 0.373 NA 18 17 0 0 0 0 ARHGAP11B 89839 broad.mit.edu 37 15 30938316 30938316 + Splice_Site SNP G G A rs112615235 by1000genomes TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr15:30938316G>A uc010azv.1 + 11 c.1127_splice c.e11-1 ARHGAP11B_uc001zeu.2_Splice_Site Q3KRB8 RHGBB_HUMAN Homo sapiens cDNA, FLJ17072. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) TTCCTTGGCAGTGGATAAGTT 0.393 NA 3 26 0 0 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40295429 40295429 + Nonsense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr15:40295429C>T uc001zkm.1 + 23 3321 c.3271C>T c.(3271-3273)CGA>TGA p.R1091* EIF2AK4_uc010bbj.1_Nonsense_Mutation_p.R792*|EIF2AK4_uc001zkn.1_Nonsense_Mutation_p.R191*|EIF2AK4_uc001zko.1_Nonsense_Mutation_p.R29* NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 1091 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) ACTGCTTCCCCGAAACAGACA 0.473 NA 19 41 0 0 0 0 CENPT 80152 broad.mit.edu 37 16 67865170 67865170 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr16:67865170C>T uc002eun.3 - 10 1201 c.652G>A c.(652-654)GAC>AAC p.D218N CENPT_uc002eum.3_Missense_Mutation_p.D218N|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_5'UTR|CENPT_uc010vke.1_Missense_Mutation_p.D115N NM_025082 NP_079358 Q96BT3 CENPT_HUMAN centromere protein T 218 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) GCACCCACGTCTACAGCTCGG 0.607 NA 37 31 0 0 0 0 CBFA2T3 863 broad.mit.edu 37 16 88951552 88951552 + Missense_Mutation SNP G G A rs151180006 TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr16:88951552G>A uc002fmm.1 - 7 1205 c.1019C>T c.(1018-1020)CCG>CTG p.P340L CBFA2T3_uc002fml.1_Missense_Mutation_p.P254L|CBFA2T3_uc010cif.1_Missense_Mutation_p.P279L|CBFA2T3_uc002fmn.1_Missense_Mutation_p.P315L NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 340 Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) GCGGTAGTGCGGCGGCGGTGT 0.697 NA T RUNX1 AML 7 19 0 0 0 0 ABR 29 broad.mit.edu 37 17 1028581 1028581 + Silent SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr17:1028581G>A uc002fsd.2 - 2 293 c.183C>T c.(181-183)AGC>AGT p.S61S ABR_uc002fse.2_Silent_p.S15S|ABR_uc010cjq.1_Silent_p.S73S NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 61 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GGCTGCGGGCGCTGAGCTGCG 0.662 NA 33 70 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532 111 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) 25 13 0 0 0 0 SLC47A2 146802 broad.mit.edu 37 17 19583338 19583338 + Silent SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr17:19583338T>G uc002gwe.3 - 16 1690 c.1515A>C c.(1513-1515)TCA>TCC p.S505S SLC47A2_uc002gwg.3_Silent_p.S469S|SLC47A2_uc002gwf.3_Silent_p.S483S|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA NM_152908 NP_690872 Q86VL8 S47A2_HUMAN solute carrier family 47, member 2 isoform 1 505 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) GCTGCCGGCCTGAATGTTTCT 0.498 NA 14 24 0 0 0 0 NXPH3 11248 broad.mit.edu 37 17 47656378 47656378 + Nonsense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr17:47656378C>T uc002ipa.2 + 2 759 c.475C>T c.(475-477)CAG>TAG p.Q159* NXPH3_uc010wlw.1_Nonsense_Mutation_p.Q159* NM_007225 NP_009156 O95157 NXPH3_HUMAN neurexophilin 3 precursor 159 IV (linker domain). neuropeptide signaling pathway extracellular region pancreas(1)|skin(1) 2 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) AGAGTTCCACCAGGAACAGCA 0.567 NA 5 77 0 0 0 0 SS18 6760 broad.mit.edu 37 18 23632698 23632698 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr18:23632698G>A uc002kvm.2 - 5 575 c.497C>T c.(496-498)TCT>TTT p.S166F SS18_uc002kvn.2_Missense_Mutation_p.S166F|SS18_uc010xbf.1_Missense_Mutation_p.S84F|SS18_uc010xbg.1_Missense_Mutation_p.S114F|SS18_uc010xbh.1_Missense_Mutation_p.S114F|SS18_uc010xbi.1_Missense_Mutation_p.S143F|SS18_uc010dlz.1_Missense_Mutation_p.S114F NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 166 Transcriptional activation. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) TGATGGCACAGAATGGTTGTA 0.458 NA T SSX1| SSX2 synovial sarcoma 48 92 0 0 0 0 RTTN 25914 broad.mit.edu 37 18 67843922 67843922 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr18:67843922G>A uc002lkp.2 - 11 1533 c.1465C>T c.(1465-1467)CCT>TCT p.P489S RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.P489S NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 489 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TTTTCAACAGGGAGAAGCGTT 0.418 NA 26 59 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9046408 9046408 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:9046408C>T uc002mkp.2 - 5 35427 c.35223G>A c.(35221-35223)GAG>GAA p.E11741E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11743 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAGTCACCATCTCTGGTGCAC 0.493 NA 44 52 0 0 0 0 EPS15L1 58513 broad.mit.edu 37 19 16514739 16514739 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:16514739G>C uc002ndz.1 - 15 1437 c.1431C>G c.(1429-1431)ATC>ATG p.I477M EPS15L1_uc002ndx.2_Missense_Mutation_p.I477M|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.I367M|EPS15L1_uc010xpf.1_Missense_Mutation_p.I380M|EPS15L1_uc002nea.1_Missense_Mutation_p.I477M|EPS15L1_uc010eah.1_Missense_Mutation_p.I477M|EPS15L1_uc002neb.1_Missense_Mutation_p.I323M|EPS15L1_uc002nec.1_Missense_Mutation_p.I477M NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 477 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 TCAGTGATGAGATCTGAAATG 0.458 NA 13 21 0 0 0 0 UQCRFS1 7386 broad.mit.edu 37 19 29698472 29698472 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:29698472T>C uc002nsd.2 - 2 919 c.808A>G c.(808-810)ATG>GTG p.M270V NM_006003 NP_005994 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske 270 Rieske. respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity 0 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) ACAATCACCATATCGTCACTG 0.473 NA 14 26 0 0 0 0 ZNF507 22847 broad.mit.edu 37 19 32844889 32844889 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:32844889A>G uc002nte.2 + 3 1425 c.1153A>G c.(1153-1155)ATC>GTC p.I385V ZNF507_uc002ntc.2_Missense_Mutation_p.I385V|ZNF507_uc010xrn.1_Missense_Mutation_p.I385V|ZNF507_uc002ntd.2_Missense_Mutation_p.I385V NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) ACAGAAAATCATCAGCAGCAG 0.458 NA 29 44 0 0 0 0 ZNF345 25850 broad.mit.edu 37 19 37368870 37368870 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:37368870G>A uc002oex.2 + 3 1516 c.1138G>A c.(1138-1140)GGT>AGT p.G380S ZNF345_uc002oey.3_Missense_Mutation_p.G380S|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 380 C2H2-type 12. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAGGCCTTTGGTAGTGGCTC 0.418 NA 14 50 0 0 0 0 ZNF345 25850 broad.mit.edu 37 19 37368948 37368948 + Missense_Mutation SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:37368948T>G uc002oex.2 + 3 1594 c.1216T>G c.(1216-1218)TCC>GCC p.S406A ZNF345_uc002oey.3_Missense_Mutation_p.S406A|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 406 C2H2-type 13. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGTGGAAAGTCCTTTAGTAG 0.433 NA 8 42 0 0 0 0 ZNF225 7768 broad.mit.edu 37 19 44636171 44636171 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:44636171C>T uc002oyj.1 + 5 1647 c.1404C>T c.(1402-1404)GCC>GCT p.A468A ZNF225_uc010eje.1_Silent_p.A385A|ZNF225_uc010ejf.1_Silent_p.A468A NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 468 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) TTGGCTGGGCCTCGTGTCTTT 0.418 NA 27 34 0 0 0 0 ZNF233 353355 broad.mit.edu 37 19 44777755 44777755 + Silent SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:44777755T>C uc002oyz.1 + 5 1069 c.942T>C c.(940-942)TAT>TAC p.Y314Y ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Silent_p.Y129Y NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 314 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) AGAAATGCTATAGGAATGGTG 0.488 NA 22 29 0 0 0 0 COLEC11 78989 broad.mit.edu 37 2 3691423 3691423 + Silent SNP G G T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:3691423G>T uc002qya.2 + 7 679 c.531G>T c.(529-531)CTG>CTT p.L177L COLEC11_uc002qxz.2_Silent_p.L174L|COLEC11_uc002qyb.2_Silent_p.L153L|COLEC11_uc002qyc.2_Silent_p.L153L|COLEC11_uc010ewo.2_Silent_p.L129L|COLEC11_uc010ewp.2_Silent_p.L151L|COLEC11_uc010ewq.2_Silent_p.L127L|COLEC11_uc010ewr.2_Silent_p.L127L|COLEC11_uc010ews.2_Silent_p.L103L NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 177 C-type lectin. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GGGGCACGCTGAGCATGCCCA 0.667 NA 19 26 1.02e-10 2.87e-10 1 0 KCNS3 3790 broad.mit.edu 37 2 18112633 18112633 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:18112633C>T uc002rcv.2 + 3 809 c.358C>T c.(358-360)CGC>TGC p.R120C KCNS3_uc002rcw.2_Missense_Mutation_p.R120C NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 120 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTGCAGCAATCGCTACCAGGA 0.507 NA 15 78 0 0 0 0 ALK 238 broad.mit.edu 37 2 29456487 29456487 + Missense_Mutation SNP C C A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:29456487C>A uc002rmy.2 - 14 3338 c.2431G>T c.(2431-2433)GTG>TTG p.V811L NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 811 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) CACTCATGCACGCTTCTGTTC 0.488 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 35 61 1.27e-14 3.66e-14 1 0 C2orf65 130951 broad.mit.edu 37 2 74802648 74802648 + Nonsense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:74802648T>A uc002smy.2 - 7 1108 c.991A>T c.(991-993)AGA>TGA p.R331* C2orf65_uc010ysa.1_Nonsense_Mutation_p.R331*|C2orf65_uc002smz.2_Nonsense_Mutation_p.R331*|C2orf65_uc010ffp.2_Nonsense_Mutation_p.R49*|C2orf65_uc002smx.2_Nonsense_Mutation_p.R87* NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 331 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 CTTGTAGGTCTGAGGATGAAC 0.483 NA 40 64 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529787 80529787 + Silent SNP G G T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:80529787G>T uc002sok.1 - 2 1428 c.1158C>A c.(1156-1158)CCC>CCA p.P386P CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 386 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 AGCTGGCAGGGGGCCCCAGAT 0.726 NA HNSCC(69;0.2) 9 20 9.7e-10 2.71e-09 1 0 SH3RF3 344558 broad.mit.edu 37 2 110015122 110015122 + Missense_Mutation SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:110015122T>G uc010ywt.1 + 4 1022 c.1022T>G c.(1021-1023)CTG>CGG p.L341R NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 341 zinc ion binding ovary(1) 1 AATGCCTCCCTGCCCTCTGAC 0.617 NA 3 7 0 0 0 0 KIAA1715 80856 broad.mit.edu 37 2 176794733 176794733 + Missense_Mutation SNP C C A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:176794733C>A uc002ukc.1 - 13 1442 c.1249G>T c.(1249-1251)GAT>TAT p.D417Y KIAA1715_uc010zer.1_Missense_Mutation_p.D448Y|KIAA1715_uc010fqw.1_Missense_Mutation_p.D483Y|KIAA1715_uc010zes.1_Missense_Mutation_p.D419Y|KIAA1715_uc002ukd.1_Missense_Mutation_p.D294Y|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 417 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) AGTTCAGGATCAGGAATAGAA 0.428 NA 24 61 1.64e-13 4.73e-13 1 0 KIAA1715 80856 broad.mit.edu 37 2 176794780 176794780 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:176794780G>A uc002ukc.1 - 13 1395 c.1202C>T c.(1201-1203)TCA>TTA p.S401L KIAA1715_uc010zer.1_Missense_Mutation_p.S432L|KIAA1715_uc010fqw.1_Missense_Mutation_p.S467L|KIAA1715_uc010zes.1_Missense_Mutation_p.S403L|KIAA1715_uc002ukd.1_Missense_Mutation_p.S278L|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 401 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TTCAATCACTGAGGCTTCCTC 0.438 NA 35 59 0 0 0 0 TMEFF2 23671 broad.mit.edu 37 2 193049123 193049123 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:193049123C>T uc002utc.2 - 3 763 c.369G>A c.(367-369)CAG>CAA p.Q123Q TMEFF2_uc002utd.1_Silent_p.Q123Q NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 123 Kazal-like 1.|Extracellular (Potential). extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TCTCACTCTGCTGTTTGCATG 0.473 NA 25 43 0 0 0 0 DOCK10 55619 broad.mit.edu 37 2 225653885 225653885 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:225653885T>A uc010fwz.1 - 48 5553 c.5314A>T c.(5314-5316)ATG>TTG p.M1772L DOCK10_uc002vob.2_Missense_Mutation_p.M1766L|DOCK10_uc002voa.2_Missense_Mutation_p.M428L|DOCK10_uc002voc.2_Missense_Mutation_p.M593L NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1772 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATAGAGAACATGCCTTGGGAG 0.373 NA 5 19 0 0 0 0 NAPB 63908 broad.mit.edu 37 20 23401954 23401954 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr20:23401954C>T uc002wta.2 - 1 203 c.86G>A c.(85-87)CGA>CAA p.R29Q NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Missense_Mutation_p.R29Q|NAPB_uc002wtd.3_RNA|NAPB_uc010zst.1_Missense_Mutation_p.R29Q NM_022080 NP_071363 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment 29 intracellular protein transport|vesicle-mediated transport membrane ovary(1) 1 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) AAACAGCCCTCGGAGGAAGGA 0.697 NA 4 7 0 0 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692054 31692054 + Silent SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr21:31692054A>G uc002ynw.2 - 1 554 c.300T>C c.(298-300)GCT>GCC p.A100A NM_203405 NP_981950 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 100 intermediate filament ovary(1) 1 AGAAGAAAGAAGCAGGAAGAA 0.542 NA 25 74 0 0 0 0 MORC2 22880 broad.mit.edu 37 22 31330915 31330915 + Silent SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:31330915G>C uc003aje.1 - 20 3224 c.1860C>G c.(1858-1860)GTC>GTG p.V620V NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 682 ATP binding|zinc ion binding ovary(1)|pancreas(1) 2 ATGCAGTCTTGACGAGAGTGT 0.602 NA 26 56 0 0 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:44083357C>T uc003bdy.1 - 11 1351 c.1136G>A c.(1135-1137)AGA>AAA p.R379K EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308 NA 7 36 0 0 0 0 PLXNB2 23654 broad.mit.edu 37 22 50716358 50716358 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:50716358A>G uc003bkv.3 - 32 5078 c.4972T>C c.(4972-4974)TTC>CTC p.F1658L PLXNB2_uc003bkt.1_Missense_Mutation_p.F450L|PLXNB2_uc003bku.1_Missense_Mutation_p.F643L NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1658 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGGAAGTCGAAGAAGTACTTG 0.602 NA 29 45 0 0 0 0 SHANK3 85358 broad.mit.edu 37 22 51117039 51117039 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:51117039C>T uc003bne.1 + 4 366 c.366C>T c.(364-366)TAC>TAT p.Y122Y NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 122 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TCATGGACTACGTCCAGCTGC 0.602 NA 8 17 0 0 0 0 OXSM 54995 broad.mit.edu 37 3 25832618 25832618 + Missense_Mutation SNP C C A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:25832618C>A uc003cdn.2 + 2 214 c.107C>A c.(106-108)CCA>CAA p.P36Q NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Missense_Mutation_p.P36Q NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 36 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 GGAACTGTGCCAATATCCAGA 0.423 NA 46 32 4.07e-11 1.15e-10 1 0 CHDH 55349 broad.mit.edu 37 3 53854579 53854579 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:53854579G>A uc003dgz.2 - 6 1482 c.1042C>T c.(1042-1044)CGC>TGC p.R348C NM_018397 NP_060867 Q8NE62 CHDH_HUMAN choline dehydrogenase precursor 348 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding ovary(1)|central_nervous_system(1) 2 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) GTGATAGGGCGGGTGCATGCC 0.557 NA 18 72 0 0 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113664258 113664258 + Missense_Mutation SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:113664258T>G uc003eaq.3 + 18 1998 c.1922T>G c.(1921-1923)CTC>CGC p.L641R GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.L474R|GRAMD1C_uc003eas.2_Missense_Mutation_p.L436R|GRAMD1C_uc003eat.2_Missense_Mutation_p.L300R|ZDHHC23_uc003eau.2_5'Flank|ZDHHC23_uc003eav.2_5'Flank NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 641 integral to membrane ovary(2)|skin(1) 3 AAGAGCTCACTCATTATGCTT 0.323 NA 24 50 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124211627 124211627 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:124211627T>A uc003ehg.2 + 32 4851 c.4724T>A c.(4723-4725)ATT>AAT p.I1575N KALRN_uc010hrv.1_Missense_Mutation_p.I1566N|KALRN_uc003ehf.1_Missense_Mutation_p.I1575N|KALRN_uc011bjy.1_Missense_Mutation_p.I1566N NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1575 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 ATCAAGAACATTCGAGAAGTG 0.463 NA 24 46 0 0 0 0 OSBPL11 114885 broad.mit.edu 37 3 125271261 125271261 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:125271261A>G uc003eic.2 - 9 2155 c.1418T>C c.(1417-1419)TTT>TCT p.F473S NM_022776 NP_073613 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 473 lipid transport lipid binding ovary(3)|breast(1)|kidney(1) 5 AGAACTGCTAAAAACACTGGA 0.453 NA 15 27 0 0 0 0 PLSCR1 5359 broad.mit.edu 37 3 146251261 146251261 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:146251261G>C uc003evx.3 - 3 478 c.90C>G c.(88-90)TTC>TTG p.F30L PLSCR1_uc003evy.3_Missense_Mutation_p.F23L|PLSCR1_uc011bnn.1_Missense_Mutation_p.S22C|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Missense_Mutation_p.F30L NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 30 Cytoplasmic. phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 CTTTACCTTGGAATGCTGTCG 0.294 NA 24 92 0 0 0 0 AGTR1 185 broad.mit.edu 37 3 148458977 148458977 + Missense_Mutation SNP T T C rs150629733 byFrequency TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:148458977T>C uc003ewg.2 + 4 601 c.155T>C c.(154-156)GTC>GCC p.V52A AGTR1_uc003ewh.2_Missense_Mutation_p.V52A|AGTR1_uc003ewi.2_Missense_Mutation_p.V52A|AGTR1_uc003ewj.2_Missense_Mutation_p.V52A|AGTR1_uc003ewk.2_Missense_Mutation_p.V52A NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 52 Helical; Name=1; (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GTGGTGATAGTCATTTACTTT 0.378 NA 20 73 0 0 0 0 PHC3 80012 broad.mit.edu 37 3 169824653 169824653 + Nonsense_Mutation SNP G G T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:169824653G>T uc010hws.1 - 12 2463 c.2399C>A c.(2398-2400)TCA>TAA p.S800* PHC3_uc003fgl.2_Nonsense_Mutation_p.S812*|PHC3_uc011bpq.1_Nonsense_Mutation_p.S759* NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 800 FCS-type. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAATCGTTTTGACCGCAAAAA 0.373 NA 13 124 9.31e-06 2.49e-05 1 0 PIK3CA 5290 broad.mit.edu 37 3 178921501 178921501 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:178921501G>C uc003fjk.2 + 5 1140 c.983G>C c.(982-984)TGG>TCG p.W328S NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 328 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AAATCCCTTTGGGTTATAAAT 0.358 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 28 328 0 0 0 0 HRG 3273 broad.mit.edu 37 3 186395211 186395211 + Nonsense_Mutation SNP G G T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:186395211G>T uc003fqq.2 + 7 1140 c.1117G>T c.(1117-1119)GAA>TAA p.E373* NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 373 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) ccatcctcatgaacatgatac 0.045 NA 29 10 1.77e-15 5.16e-15 1 0 THAP6 152815 broad.mit.edu 37 4 76442145 76442145 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr4:76442145C>T uc003him.2 + 3 341 c.244C>T c.(244-246)CCT>TCT p.P82S RCHY1_uc003hij.2_5'Flank|RCHY1_uc003hik.2_5'Flank|RCHY1_uc003hil.2_5'Flank|RCHY1_uc010iip.2_5'Flank|RCHY1_uc010iiq.2_5'Flank|RCHY1_uc010iir.2_5'Flank|THAP6_uc010iis.1_Missense_Mutation_p.P41S|THAP6_uc003hin.2_Missense_Mutation_p.P82S|THAP6_uc011cbm.1_Missense_Mutation_p.P82S|THAP6_uc010iiu.1_RNA|THAP6_uc003hio.1_RNA|THAP6_uc010iiv.2_Missense_Mutation_p.P82S NM_144721 NP_653322 Q8TBB0 THAP6_HUMAN THAP domain containing 6 82 THAP-type. microtubule cytoskeleton DNA binding|metal ion binding 0 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TAAACTGAAACCTGGAGTCAT 0.363 NA 5 33 0 0 0 0 C4orf29 80167 broad.mit.edu 37 4 128951815 128951815 + Missense_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr4:128951815A>T uc003ifr.2 + 12 1547 c.1229A>T c.(1228-1230)CAA>CTA p.Q410L C4orf29_uc003ifs.2_Missense_Mutation_p.Q338L|C4orf29_uc003ift.2_Missense_Mutation_p.Q275L|C4orf29_uc003ifu.2_Missense_Mutation_p.Q275L|C4orf29_uc010inz.2_Missense_Mutation_p.Q241L|C4orf29_uc003ifv.2_Missense_Mutation_p.Q275L NM_001039717 NP_001034806 Q0P651 CD029_HUMAN hypothetical protein LOC80167 precursor 410 extracellular region ovary(1) 1 CTTTTTAAACAAGGACTCTTC 0.353 NA 25 36 0 0 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184368144 184368144 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr4:184368144A>G uc003ivp.1 + 3 1469 c.1307A>G c.(1306-1308)AAG>AGG p.K436R CDKN2AIP_uc003ivq.1_Missense_Mutation_p.K181R NM_017632 NP_060102 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 436 negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding 0 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GTGAAACAGAAGCAACCTTTT 0.408 NA 24 38 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187540589 187540589 + Missense_Mutation SNP T T C rs139480903 by1000genomes TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr4:187540589T>C uc003izf.2 - 10 7339 c.7151A>G c.(7150-7152)AAT>AGT p.N2384S NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2384 Extracellular (Potential).|Cadherin 21. 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 TGGATTATCATTGAGGTCGGT 0.502 NA HNSCC(5;0.00058) 18 39 0 0 0 0 SLC6A18 348932 broad.mit.edu 37 5 1244337 1244337 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:1244337T>C uc003jby.1 + 10 1468 c.1345T>C c.(1345-1347)TGC>CGC p.C449R NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 449 Helical; Name=9; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGGGCTGGTCTGCCTGGTCTG 0.627 NA 26 37 0 0 0 0 C5orf34 375444 broad.mit.edu 37 5 43506112 43506112 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:43506112G>C uc003jnz.1 - 5 987 c.670C>G c.(670-672)CTG>GTG p.L224V C5orf34_uc011cpx.1_Missense_Mutation_p.L110V NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 224 breast(1) 1 Lung NSC(6;2.07e-05) GGCGAAGGCAGCTCTTCCCTC 0.423 NA 50 88 0 0 0 0 ZNF366 167465 broad.mit.edu 37 5 71756463 71756463 + Silent SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:71756463C>G uc003kce.1 - 2 1047 c.861G>C c.(859-861)GGG>GGC p.G287G NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 287 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TGAAGAGCTTCCCGCAGTGCG 0.627 NA 23 50 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237238 140237238 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:140237238C>T uc003lhx.2 + 1 1605 c.1605C>T c.(1603-1605)AGC>AGT p.S535S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.S535S NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 535 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGGTGAGCGCGCGCGATG 0.682 NA 54 39 0 0 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502789 140502789 + Silent SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:140502789A>T uc003lip.1 + 1 1209 c.1209A>T c.(1207-1209)GTA>GTT p.V403V NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 403 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGGTAACAGAGAGAC 0.448 NA 32 19 0 0 0 0 HSPA1A 3303 broad.mit.edu 37 6 31785354 31785354 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr6:31785354C>T uc003nxj.2 + 1 2064 c.1821C>T c.(1819-1821)ATC>ATT p.I607I HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Silent_p.I370I|HSPA1A_uc003nxi.1_Silent_p.I442I|uc011dok.1_RNA NM_005345 NP_005336 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 607 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding ovary(1) 1 ACCCCATCATCAGCGGACTGT 0.632 NA 30 82 0 0 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107031256 107031256 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr6:107031256T>C uc003prj.2 - 8 1507 c.1030A>G c.(1030-1032)ATG>GTG p.M344V RTN4IP1_uc010kdd.2_Silent_p.S220S|RTN4IP1_uc003prk.2_Missense_Mutation_p.M244V NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 precursor 344 mitochondrion oxidoreductase activity|zinc ion binding 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) CCACTGGCCATGAAAAATGCC 0.413 NA 20 28 0 0 0 0 MACC1 346389 broad.mit.edu 37 7 20198105 20198105 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:20198105C>T uc003sus.3 - 5 2188 c.1879G>A c.(1879-1881)GAT>AAT p.D627N MACC1_uc010kug.2_Missense_Mutation_p.D627N NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 627 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 AAGACACTATCTGACATAAAC 0.353 NA 33 76 0 0 0 0 ZNF107 51427 broad.mit.edu 37 7 64166764 64166764 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:64166764A>G uc003ttd.2 + 7 868 c.82A>G c.(82-84)AAA>GAA p.K28E ZNF107_uc003tte.2_Missense_Mutation_p.K28E NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) TTCTTTCCAGAAAGTGACACT 0.363 NA 26 25 0 0 0 0 SMURF1 57154 broad.mit.edu 37 7 98638089 98638089 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:98638089A>G uc003upu.1 - 14 1860 c.1540T>C c.(1540-1542)TTC>CTC p.F514L SMURF1_uc003upv.1_Missense_Mutation_p.F488L|SMURF1_uc003upt.2_Missense_Mutation_p.F488L NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 514 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) TGCTTGTAGAAGGGCACTGTG 0.542 NA OREG0018189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 55 0 0 0 0 SMURF1 57154 broad.mit.edu 37 7 98645385 98645385 + Silent SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:98645385G>A uc003upu.1 - 11 1472 c.1152C>T c.(1150-1152)GTC>GTT p.V384V SMURF1_uc003upv.1_Silent_p.V358V|SMURF1_uc003upt.2_Silent_p.V358V NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 384 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) CGTGTCTGAGGACTTTCAGCT 0.567 NA 123 97 0 0 0 0 SLC4A2 6522 broad.mit.edu 37 7 150771897 150771897 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:150771897A>G uc003wit.3 + 19 3272 c.3016A>G c.(3016-3018)ATT>GTT p.I1006V SLC4A2_uc011kve.1_Missense_Mutation_p.I997V|SLC4A2_uc003wiu.3_Missense_Mutation_p.I992V|SLC4A2_uc003wiv.3_Missense_Mutation_p.I200V|uc011kvf.1_3'UTR NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 1006 Membrane (anion exchange).|Helical; (Potential). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTGGTCTTCATTCTCATCTT 0.597 NA 10 15 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151945031 151945031 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:151945031T>C uc003wla.2 - 14 2707 c.2488A>G c.(2488-2490)ATT>GTT p.I830V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 830 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CTCTTAGTAATAGCTGGTTTA 0.383 NA N medulloblastoma 8 167 0 0 0 0 CCNE2 9134 broad.mit.edu 37 8 95897779 95897779 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr8:95897779T>C uc003yhc.2 - 8 717 c.608A>G c.(607-609)TAT>TGT p.Y203C CCNE2_uc003yhd.2_Missense_Mutation_p.Y203C NM_057749 NP_477097 O96020 CCNE2_HUMAN cyclin E2 203 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding 0 Breast(36;8.75e-07) TTTAGGAGCATAGATTTCCTT 0.229 NA 26 31 0 0 0 0 TRHR 7201 broad.mit.edu 37 8 110100298 110100298 + Missense_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr8:110100298A>T uc003ymz.3 + 1 573 c.557A>T c.(556-558)AAT>ATT p.N186I NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 186 Extracellular (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) ATCTCCAGGAATTACTACTCA 0.403 NA 14 51 0 0 0 0 TAF2 6873 broad.mit.edu 37 8 120809913 120809913 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr8:120809913C>G uc003you.2 - 7 1236 c.966G>C c.(964-966)ATG>ATC p.M322I NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 322 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TAAAAATGCTCATGGAAGCAT 0.338 NA 11 25 0 0 0 0 IL11RA 3590 broad.mit.edu 37 9 34655639 34655639 + Silent SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:34655639G>A uc003zvi.2 + 3 1494 c.138G>A c.(136-138)CTG>CTA p.L46L IL11RA_uc011loq.1_Silent_p.L46L|IL11RA_uc003zvj.2_Silent_p.L46L|IL11RA_uc003zvk.2_Silent_p.L46L|IL11RA_uc010mke.2_Translation_Start_Site|IL11RA_uc003zvl.2_RNA NM_004512 NP_004503 Q14626 I11RA_HUMAN interleukin 11 receptor, alpha isoform 1 46 Ig-like C2-type.|Extracellular (Potential). integral to plasma membrane cytokine receptor activity skin(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) CCGTGAAGCTGTGTTGTCCTG 0.582 NA 10 12 0 0 0 0 COL15A1 1306 broad.mit.edu 37 9 101817638 101817638 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:101817638G>A uc004azb.1 + 34 3382 c.3176G>A c.(3175-3177)GGA>GAA p.G1059E NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1059 Triple-helical region 8 (COL8). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GGCCTGCCCGGAAATCCAGGC 0.542 NA 27 63 0 0 0 0 OR1L4 254973 broad.mit.edu 37 9 125486501 125486501 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:125486501T>C uc004bmu.1 + 1 233 c.233T>C c.(232-234)ATA>ACA p.I78T NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 78 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACAACAGTCATAGTGCCTAAG 0.443 NA 34 100 0 0 0 0 SLC2A6 11182 broad.mit.edu 37 9 136338606 136338607 + Nonsense_Mutation DNP GC GC AT TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:136338606_136338607GC>AT uc004cee.2 - 8 1247_1248 c.1152_1153GC>AT c.(1150-1155)GCGCAG>GCATAG p.Q385* SLC2A6_uc004cef.2_Intron|SLC2A6_uc004ceg.2_Nonsense_Mutation_p.Q362* NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose 385 Extracellular (Potential). integral to membrane|plasma membrane D-glucose transmembrane transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) GCCAGGGGCTGCGCCAAGTCCC 0.663 NA 8 20 0 0 0 0 ABCB7 22 broad.mit.edu 37 X 74288843 74288843 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chrX:74288843T>C uc004eca.2 - 12 1683 c.1658A>G c.(1657-1659)CAG>CGG p.Q553R ABCB7_uc004ebz.2_Missense_Mutation_p.Q554R|ABCB7_uc011mqn.1_Missense_Mutation_p.Q527R|ABCB7_uc010nls.2_Missense_Mutation_p.Q514R|ABCB7_uc010nlt.2_Missense_Mutation_p.Q513R NM_004299 NP_004290 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B, member 7 553 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity ovary(1) 1 TTTAAATACCTGAGGTACCAC 0.403 NA 3 73 0 0 0 0 RBM41 55285 broad.mit.edu 37 X 106358744 106358744 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chrX:106358744G>C uc004emz.2 - 4 392 c.361C>G c.(361-363)CTT>GTT p.L121V RBM41_uc004emy.1_Missense_Mutation_p.L121V NM_018301 NP_060771 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 121 nucleotide binding|RNA binding ovary(1) 1 ATATCTTGAAGACGGTTCTGT 0.463 NA 32 13 0 0 0 0 TMLHE 55217 broad.mit.edu 37 X 154736595 154736595 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chrX:154736595T>C uc004fnn.2 - 6 1125 c.959A>G c.(958-960)AAT>AGT p.N320S TMLHE_uc004fno.2_Missense_Mutation_p.N320S|TMLHE_uc004fnp.3_Missense_Mutation_p.N320S NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 320 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) TGGGTAGATATTTAAGACTGG 0.373 NA 70 14 0 0 0 0 CPT2 1376 broad.mit.edu 37 1 53676319 53676319 + Frame_Shift_Del DEL C C - TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:53676319delC uc001cvb.3 + 4 1488 c.973delC c.(973-975)CTCfs p.L325fs NM_000098 NP_000089 P23786 CPT2_HUMAN carnitine O-palmitoyltransferase precursor 325 Mitochondrial matrix (By similarity). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity 0 L-Carnitine(DB00583)|Perhexiline(DB01074) AGTGTTCTGTCTCTGCCTAGA 0.512 NA 28 50 --- --- --- --- NA NA NA NA HMX3 340784 broad.mit.edu 37 10 124895904 124895904 + Frame_Shift_Del DEL C C - TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr10:124895904delC uc010quc.1 + 1 338 c.338delC c.(337-339)TCCfs p.S113fs NM_001105574 NP_001099044 A6NHT5 HMX3_HUMAN H6 family homeobox 3 113 cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) CTGGAGCGCTCCCCAGCCTGG 0.672 NA 2 4 --- --- --- --- NA NA NA NA PRB1 5542 broad.mit.edu 37 12 11506549 11506549 + Frame_Shift_Del DEL G G - TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:11506549delG uc001qzw.1 - 4 525 c.488delC c.(487-489)CCAfs p.P163fs PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 224 9.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) ACCTCCTTGTGGGGGTGGTCC 0.612 NA 94 82 --- --- --- --- NA NA NA NA ZNF737 100129842 broad.mit.edu 37 19 20728437 20728437 + Frame_Shift_Del DEL T T - TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:20728437delT uc002npa.2 - 4 752 c.572delA c.(571-573)CATfs p.H191fs NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 191 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 AATTTTCTTATGTGTAGTAAG 0.358 NA 12 29 --- --- --- --- NA NA NA NA SERPIND1 3053 broad.mit.edu 37 22 21138419 21138420 + Frame_Shift_Ins INS - - G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:21138419_21138420insG uc002ztb.1 + 3 1116_1117 c.1049_1050insG c.(1048-1050)GTGfs p.V350fs PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Frame_Shift_Ins_p.V378fs NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 350 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CTGGAATACGTGGGGGGCATCA 0.54 NA OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 72 --- --- --- --- NA NA NA NA MEI1 150365 broad.mit.edu 37 22 42191530 42191531 + Frame_Shift_Ins INS - - T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:42191530_42191531insT uc003baz.1 + 29 3675_3676 c.3650_3651insT c.(3649-3651)CATfs p.H1217fs WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Frame_Shift_Ins_p.H603fs|MEI1_uc003bbc.1_Frame_Shift_Ins_p.H585fs|MEI1_uc010gym.1_Frame_Shift_Ins_p.H550fs|MEI1_uc003bbd.1_Intron|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc003bbf.2_Frame_Shift_Ins_p.H231fs|MEI1_uc003bbg.2_Intron NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 1217 binding central_nervous_system(1)|skin(1) 2 CAGGCCCTGCATGGCTTCTTCC 0.574 NA 23 36 --- --- --- --- NA NA NA NA SURF2 6835 broad.mit.edu 37 9 136227265 136227266 + Frame_Shift_Del DEL GA GA - TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:136227265_136227266delGA uc004cdi.2 + 5 690_691 c.642_643delGA c.(640-645)AGGAGAfs p.R214fs NM_017503 NP_059973 Q15527 SURF2_HUMAN surfeit 2 214_215 protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) ATGAGAGCAGGAGAGAGACGAC 0.554 NA 9 29 --- --- --- --- NA NA NA NA