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 KIAA0090 23065 broad.mit.edu 37 1 19577911 19577911 + Silent SNP A A G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:19577911A>G uc001bbo.2 - 1 136 c.93T>C c.(91-93)GAT>GAC p.D31D KIAA0090_uc001bbp.2_Silent_p.D31D|KIAA0090_uc001bbq.2_Silent_p.D31D|KIAA0090_uc001bbr.2_Silent_p.D31D|MRTO4_uc001bbs.2_5'Flank NM_015047 NP_055862 Q8N766 K0090_HUMAN hypothetical protein LOC23065 precursor 31 Extracellular (Potential). integral to membrane protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) GTACGCACCAATCAAACTTGC 0.493 NA 9 48 0 0 0 0 ZNF362 149076 broad.mit.edu 37 1 33745847 33745847 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:33745847G>A uc001bxc.1 + 5 642 c.472G>A c.(472-474)GCC>ACC p.A158T NM_152493 NP_689706 Q5T0B9 ZN362_HUMAN zinc finger protein 362 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCGCCTCATCGCCTCGTCCCC 0.682 NA 8 124 0 0 0 0 DBT 1629 broad.mit.edu 37 1 100672165 100672165 + Missense_Mutation SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:100672165C>G uc001dta.2 - 9 1078 c.1045G>C c.(1045-1047)GAT>CAT p.D349H DBT_uc010oug.1_Missense_Mutation_p.D168H NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 349 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TGCTCAGTATCCATTGCTATC 0.388 NA 33 252 0 0 0 0 PSMB4 5692 broad.mit.edu 37 1 151373293 151373293 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:151373293C>T uc001eyc.1 + 4 571 c.548C>T c.(547-549)GCC>GTC p.A183V PSMB4_uc010pda.1_3'UTR|PSMB4_uc001eyb.1_3'UTR NM_002796 NP_002787 P28070 PSB4_HUMAN proteasome beta 4 subunit 183 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTTCGCTGGCCACTGGTTAT 0.358 NA 35 302 0 0 0 0 NID1 4811 broad.mit.edu 37 1 236175241 236175241 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:236175241C>T uc001hxo.2 - 12 2609 c.2507G>A c.(2506-2508)GGC>GAC p.G836D NID1_uc009xgd.2_Intron|NID1_uc009xgc.2_5'UTR NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 836 EGF-like 5; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCAACGGAAGCCGTCTCCCTG 0.577 NA 8 89 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237961367 237961367 + Nonsense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:237961367C>T uc001hyl.1 + 97 14107 c.13987C>T c.(13987-13989)CGA>TGA p.R4663* RYR2_uc010pyb.1_Nonsense_Mutation_p.R96* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4663 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTCTACGGCCGAGACAGAAT 0.408 NA 3 17 0 0 0 0 C1orf101 257044 broad.mit.edu 37 1 244735832 244735832 + Missense_Mutation SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:244735832C>G uc001iam.2 + 11 1767 c.1708C>G c.(1708-1710)CTG>GTG p.L570V C1orf101_uc001iak.1_Missense_Mutation_p.L124V|C1orf101_uc001ial.2_Missense_Mutation_p.L570V|C1orf101_uc010pym.1_Missense_Mutation_p.L419V|C1orf101_uc010pyn.1_Missense_Mutation_p.L503V NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 570 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TCCCTTACATCTGGAAGCACA 0.363 NA 8 70 0 0 0 0 MYO3A 53904 broad.mit.edu 37 10 26463239 26463239 + Missense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr10:26463239C>A uc001isn.2 + 30 4406 c.4046C>A c.(4045-4047)GCA>GAA p.A1349E MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1349 IQ 3. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GAAGATAAAGCAGCGGTATTC 0.488 NA 11 89 0.00829132 0.00858224 1 0 CSGALNACT2 55454 broad.mit.edu 37 10 43650731 43650731 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr10:43650731C>T uc001jan.2 + 2 469 c.134C>T c.(133-135)CCT>CTT p.P45L CSGALNACT2_uc001jam.1_Missense_Mutation_p.P45L NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 45 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 GCATCTCTTCCTGGTGTTGTT 0.463 NA 8 64 0 0 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648571 62648571 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr10:62648571G>A uc001jli.2 - 7 1293 c.855C>T c.(853-855)CTC>CTT p.L285L RHOBTB1_uc001jlh.2_Silent_p.L285L|RHOBTB1_uc001jlj.2_Silent_p.L285L|RHOBTB1_uc001jlk.2_Silent_p.L285L|RHOBTB1_uc009xpe.1_Silent_p.L223L|RHOBTB1_uc001jll.2_Silent_p.L35L NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 285 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) AAGAGGTAGCGAGGTAAATTC 0.438 NA 13 92 0 0 0 0 SEC23IP 11196 broad.mit.edu 37 10 121685734 121685734 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr10:121685734G>A uc001leu.1 + 13 2380 c.2308G>A c.(2308-2310)GGA>AGA p.G770R SEC23IP_uc010qtc.1_Missense_Mutation_p.G559R|SEC23IP_uc009xzk.1_RNA NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 770 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding p.G770R(1) ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) AGTTGGCGCCGGACAGGTGAG 0.393 NA 19 137 0 0 0 0 HRAS 3265 broad.mit.edu 37 11 534289 534289 + Missense_Mutation SNP C C T rs104894229 TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr11:534289C>T uc001lpv.2 - 2 222 c.34G>A c.(34-36)GGC>AGC p.G12S HRAS_uc010qvw.1_Missense_Mutation_p.G12S|HRAS_uc010qvx.1_Missense_Mutation_p.G12S|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 12 GTP. G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12V(250)|p.G12S(54)|p.G12D(39)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCCACACCGCCGGCGCCCACC 0.647 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 56 46 0 0 0 0 DDB1 1642 broad.mit.edu 37 11 61089130 61089130 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr11:61089130G>A uc001nrc.3 - 10 1388 c.1162C>T c.(1162-1164)CGG>TGG p.R388W DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R388W|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Missense_Mutation_p.R388W|DDB1_uc009ynl.1_Missense_Mutation_p.R275W NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 388 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 CGGATGATCCGCAAAGAACCT 0.473 NA NER 19 235 0 0 0 0 DDB1 1642 broad.mit.edu 37 11 61090509 61090509 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr11:61090509G>A uc001nrc.3 - 8 1205 c.979C>T c.(979-981)CGC>TGC p.R327C DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R327C|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Missense_Mutation_p.R327C|DDB1_uc009ynl.1_Missense_Mutation_p.R214C NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 327 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 TCACCCAGGCGAGACCCGACA 0.438 NA NER 3 31 0 0 0 0 DDX10 1662 broad.mit.edu 37 11 108546344 108546344 + Missense_Mutation SNP G G A rs145766863 byFrequency TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr11:108546344G>A uc001pkm.2 + 3 334 c.269G>A c.(268-270)CGT>CAT p.R90H DDX10_uc001pkl.1_Missense_Mutation_p.R90H NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 90 Q motif.|ATP. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) GCTCAGTACCGTTTGGTGACT 0.393 NA T NUP98 AML* 8 92 0 0 0 0 OR6M1 390261 broad.mit.edu 37 11 123676267 123676267 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr11:123676267G>A uc010rzz.1 - 1 791 c.791C>T c.(790-792)TCA>TTA p.S264L NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) ATAATCCAGTGAGGAGTTCTG 0.488 NA 8 66 0 0 0 0 PRB3 5544 broad.mit.edu 37 12 11420574 11420574 + Missense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:11420574C>A uc001qzs.2 - 3 647 c.609G>T c.(607-609)AAG>AAT p.K203N PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 203 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|8.|Pro-rich. Missing (in allele S). extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) GTCCTTCTGGCTTTCCCGGAC 0.627 NA 10 272 1.4e-16 1.51e-16 1 0 PRB3 5544 broad.mit.edu 37 12 11420826 11420826 + Missense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:11420826C>A uc001qzs.2 - 3 395 c.357G>T c.(355-357)AAG>AAT p.K119N PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 119 4.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. K -> E (in Ref. 1; CAA30728). extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) GTCCTTCTGGCTTTCCCGGAC 0.632 NA 18 195 5.77e-19 6.24e-19 1 0 PUS7L 83448 broad.mit.edu 37 12 44148576 44148576 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:44148576G>A uc001rnq.3 - 2 962 c.473C>T c.(472-474)CCT>CTT p.P158L PUS7L_uc001rnr.3_Missense_Mutation_p.P158L|PUS7L_uc001rns.3_Missense_Mutation_p.P158L|PUS7L_uc009zkb.2_Intron NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 158 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) GAATTCAGGAGGTAGTCCAAT 0.368 NA 10 120 0 0 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57867414 57867414 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:57867414G>C uc001sod.2 - 20 2459 c.2266C>G c.(2266-2268)CTA>GTA p.L756V ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.L482V|ARHGAP9_uc001soa.2_Missense_Mutation_p.L355V|ARHGAP9_uc001sob.2_Intron|ARHGAP9_uc001soc.2_Missense_Mutation_p.L666V NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 685 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) AGGTACCGTAGAGTGTCATGG 0.507 NA 12 109 0 0 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57867440 57867440 + Nonsense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:57867440G>C uc001sod.2 - 20 2433 c.2240C>G c.(2239-2241)TCA>TGA p.S747* ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Nonsense_Mutation_p.S473*|ARHGAP9_uc001soa.2_Nonsense_Mutation_p.S346*|ARHGAP9_uc001sob.2_Intron|ARHGAP9_uc001soc.2_Nonsense_Mutation_p.S657* NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 676 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) CTTTGGCATTGAGCCTATTAA 0.488 NA 10 92 0 0 0 0 GNS 2799 broad.mit.edu 37 12 65130831 65130831 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:65130831G>A uc001ssg.3 - 9 1221 c.1051C>T c.(1051-1053)CCA>TCA p.P351S GNS_uc001ssf.2_Missense_Mutation_p.P295S|GNS_uc010ssq.1_Missense_Mutation_p.P383S|GNS_uc010ssr.1_Missense_Mutation_p.P331S NM_002076 NP_002067 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase precursor 351 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1) 1 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) ACCAACAGTGGAACTTTGATA 0.458 NA 5 73 0 0 0 0 ATP11A 23250 broad.mit.edu 37 13 113508638 113508638 + Silent SNP C C T rs144429120 TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr13:113508638C>T uc001vsi.3 + 19 2125 c.2037C>T c.(2035-2037)GCC>GCT p.A679A ATP11A_uc001vsj.3_Silent_p.A679A|ATP11A_uc001vsm.1_Silent_p.A555A|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 679 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TGCAGAAGGCCGGGATCAAAG 0.592 NA 5 57 0 0 0 0 FSIP1 161835 broad.mit.edu 37 15 40068654 40068654 + Missense_Mutation SNP G G T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr15:40068654G>T uc001zki.2 - 2 290 c.72C>A c.(70-72)AGC>AGA p.S24R NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 24 ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TTGAACTTCTGCTCCCAGGGC 0.368 NA 10 146 4.69e-08 5.03e-08 1 0 B2M 567 broad.mit.edu 37 15 45003745 45003745 + Missense_Mutation SNP A A G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr15:45003745A>G uc001zuc.2 + 1 61 c.1A>G c.(1-3)ATG>GTG p.M1V B2M_uc010uek.1_Missense_Mutation_p.M1V|B2M_uc010bdx.1_Missense_Mutation_p.M1V NM_004048 NP_004039 P61769 B2MG_HUMAN beta-2-microglobulin precursor 1 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.M1V(2) ovary(2)|skin(1) 3 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TCGGGCCGAGATGTCTCGCTC 0.612 NA 5 74 0 0 0 0 HERC1 8925 broad.mit.edu 37 15 63942010 63942010 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr15:63942010C>T uc002amp.2 - 54 10809 c.10661G>A c.(10660-10662)CGG>CAG p.R3554Q NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 3554 WD 6. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TCCATCCATCCGTCCCACCAA 0.512 NA 7 23 0 0 0 0 LBXCOR1 390598 broad.mit.edu 37 15 68118861 68118861 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr15:68118861C>T uc002aqy.1 + 2 668 c.668C>T c.(667-669)GCC>GTC p.A223V NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 232 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 ACACCCGACGCCAAGTACACG 0.567 NA 7 57 0 0 0 0 CHD2 1106 broad.mit.edu 37 15 93518123 93518123 + Silent SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr15:93518123C>A uc002bsp.2 + 20 3095 c.2520C>A c.(2518-2520)TCC>TCA p.S840S CHD2_uc002bso.1_Silent_p.S840S|CHD2_uc010bog.1_Silent_p.S85S|CHD2_uc010boh.1_Silent_p.S34S NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 840 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TGGATGGTTCCATCAAGGGAG 0.433 NA 11 62 0.000308642 0.000325176 1 0 RHBDL1 9028 broad.mit.edu 37 16 727018 727019 + Missense_Mutation DNP GC GC AA TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr16:727018_727019GC>AA uc002cis.1 + 3 696_697 c.669_670GC>AA c.(667-672)CTGCAG>CTAAAG p.Q224K RHBDL1_uc002cir.1_Missense_Mutation_p.Q159K|RHBDL1_uc010uun.1_Missense_Mutation_p.Q159K NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 224 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) AGTGGGTGCTGCAGACCTACCA 0.639 NA 8 63 0 0 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67318871 67318871 + Missense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr16:67318871C>A uc002eso.3 + 12 4483 c.1948C>A c.(1948-1950)CCA>ACA p.P650T PLEKHG4_uc002esp.3_Missense_Mutation_p.P457T|PLEKHG4_uc002esq.3_Missense_Mutation_p.P650T|PLEKHG4_uc010cef.2_Missense_Mutation_p.P650T|PLEKHG4_uc002ess.3_Missense_Mutation_p.P650T|PLEKHG4_uc010ceg.2_Missense_Mutation_p.P569T NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 650 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) ACTGAAGCTACCACCGGTGGG 0.667 NA 6 28 0.00198382 0.00207527 1 0 CTCF 10664 broad.mit.edu 37 16 67650717 67650717 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr16:67650717G>A uc002etl.2 + 5 1312 c.1022G>A c.(1021-1023)CGT>CAT p.R341H CTCF_uc010cek.2_Missense_Mutation_p.R13H NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 341 C2H2-type 3. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GTTCGGCATCGTCGTTACAAA 0.488 NA 26 276 0 0 0 0 PRMT7 54496 broad.mit.edu 37 16 68382250 68382250 + Missense_Mutation SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr16:68382250C>G uc002evy.1 + 14 1605 c.1329C>G c.(1327-1329)TTC>TTG p.F443L PRMT7_uc002evx.1_Intron|PRMT7_uc010vlg.1_Missense_Mutation_p.F393L|PRMT7_uc002evz.1_Intron NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 443 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CTAAGATCTTCAAGGCTAACC 0.373 NA 8 84 0 0 0 0 ZNF594 84622 broad.mit.edu 37 17 5085805 5085805 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:5085805G>C uc010cla.1 - 2 1903 c.1747C>G c.(1747-1749)CTC>GTC p.L583V NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 583 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TGTCTGATGAGGTCTGAGCTG 0.458 NA 17 198 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10354168 10354168 + Nonsense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:10354168G>A uc002gmn.2 - 29 4021 c.3910C>T c.(3910-3912)CAG>TAG p.Q1304* uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1304 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CGGGATAGCTGAGAAACCATA 0.383 NA 20 110 0 0 0 0 STAT5B 6777 broad.mit.edu 37 17 40359614 40359614 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:40359614G>A uc002hzh.2 - 16 2208 c.2039C>T c.(2038-2040)TCC>TTC p.S680F NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 680 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GTAGTATTTGGAGTATACTTC 0.388 NA 18 145 0 0 0 0 EZH1 2145 broad.mit.edu 37 17 40854917 40854917 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:40854917C>T uc002iaz.2 - 20 2306 c.2161G>A c.(2161-2163)GAA>AAA p.E721K EZH1_uc002iba.2_Missense_Mutation_p.E712K|EZH1_uc010wgt.1_Missense_Mutation_p.E651K|EZH1_uc010wgu.1_Missense_Mutation_p.E727K|EZH1_uc010wgv.1_Missense_Mutation_p.E681K|EZH1_uc010wgw.1_Missense_Mutation_p.E582K NM_001991 NP_001982 Q92800 EZH1_HUMAN enhancer of zeste homolog 1 721 SET. VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019). anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding p.E721K(1) ovary(3) 3 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) AAGAGCTCTTCGCCAGCTTGA 0.512 NA 20 196 0 0 0 0 OTOP2 92736 broad.mit.edu 37 17 72926892 72926892 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:72926892G>A uc010wrp.1 + 7 1251 c.1162G>A c.(1162-1164)GTG>ATG p.V388M NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 388 Helical; (Potential). integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) CTACTCCATCGTGGCTGTGGT 0.617 NA 6 63 0 0 0 0 EPB41L3 23136 broad.mit.edu 37 18 5489117 5489117 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr18:5489117C>T uc002kmt.1 - 2 152 c.66G>A c.(64-66)GCG>GCA p.A22A EPB41L3_uc010wzh.1_Silent_p.A22A|EPB41L3_uc002kmu.1_Silent_p.A22A|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.A44A|EPB41L3_uc002kmv.1_5'UTR NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 22 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 gcgcccccgccgccTCCTGGG 0.512 NA 3 27 0 0 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255584 9255584 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr18:9255584G>C uc002knv.2 + 9 2576 c.2319G>C c.(2317-2319)GAG>GAC p.E773D ANKRD12_uc002knw.2_Missense_Mutation_p.E750D|ANKRD12_uc002knx.2_Missense_Mutation_p.E750D|ANKRD12_uc010dkx.1_Missense_Mutation_p.E480D NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 773 nucleus ovary(2)|central_nervous_system(1) 3 TAAAAGAAGAGAGAGAAAACA 0.348 NA 7 64 0 0 0 0 SMAD4 4089 broad.mit.edu 37 18 48573554 48573554 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr18:48573554G>A uc010xdp.1 + 2 676 c.138G>A c.(136-138)AAG>AAA p.K46K SMAD4_uc010xdo.1_RNA NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 46 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(5) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGGTAAAGAAGCTGAAGGAGA 0.368 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 7 86 0 0 0 0 DSEL 92126 broad.mit.edu 37 18 65178325 65178325 + Missense_Mutation SNP A A G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr18:65178325A>G uc002lke.1 - 2 4775 c.3551T>C c.(3550-3552)ATA>ACA p.I1184T NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1174 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AGTTGGTGATATTTCCCCTTC 0.363 NA 10 66 0 0 0 0 ZNF407 55628 broad.mit.edu 37 18 72344099 72344099 + Missense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr18:72344099C>A uc002llw.2 + 1 1181 c.1124C>A c.(1123-1125)CCT>CAT p.P375H ZNF407_uc010xfc.1_Missense_Mutation_p.P375H|ZNF407_uc010dqu.1_Missense_Mutation_p.P375H|ZNF407_uc002llu.2_Missense_Mutation_p.P374H NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GCTCAGAATCCTGAAAACCAG 0.413 NA 6 82 0.000157383 0.000166409 1 0 ATCAY 85300 broad.mit.edu 37 19 3920766 3920766 + Missense_Mutation SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:3920766C>G uc002lyy.3 + 12 1506 c.1076C>G c.(1075-1077)TCT>TGT p.S359C ATCAY_uc010xhz.1_Missense_Mutation_p.S365C|ATCAY_uc010dts.2_Missense_Mutation_p.S116C NM_033064 NP_149053 Q86WG3 ATCAY_HUMAN caytaxin 359 transport protein binding breast(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) CTCCACAGGTCTGCTCTGGTC 0.378 NA 4 34 0 0 0 0 PLIN3 10226 broad.mit.edu 37 19 4847853 4847853 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:4847853C>T uc002mbj.2 - 6 861 c.684G>A c.(682-684)CAG>CAA p.Q228Q PLIN3_uc002mbk.2_Silent_p.Q216Q|PLIN3_uc002mbl.3_Silent_p.Q228Q NM_005817 NP_005808 O60664 PLIN3_HUMAN mannose 6 phosphate receptor binding protein 1 228 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding 0 Galsulfase(DB01279)|Idursulfase(DB01271) CCTGCCGCTGCTGCTGCACGG 0.617 NA 3 23 0 0 0 0 HNRNPM 4670 broad.mit.edu 37 19 8551952 8551952 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:8551952C>T uc010dwe.2 + 15 2102 c.2022C>T c.(2020-2022)AAC>AAT p.N674N HNRNPM_uc010dwd.2_Silent_p.N635N|HNRNPM_uc002mka.2_Silent_p.N539N|HNRNPM_uc002mkb.1_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 674 RRM 3. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 ACAAATTCAACGAGTGCGGTA 0.517 NA 18 142 0 0 0 0 CACNA1A 773 broad.mit.edu 37 19 13414687 13414687 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:13414687G>A uc010dze.2 - 16 2237 c.2001C>T c.(1999-2001)GGC>GGT p.G667G CACNA1A_uc010dzc.2_Silent_p.G192G|CACNA1A_uc002mwy.3_Silent_p.G666G|CACNA1A_uc010xne.1_Silent_p.G192G NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 667 Extracellular (Potential).|II. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCCAGTCTTCGCCCGTCAGGA 0.592 NA 18 159 0 0 0 0 ZNF302 55900 broad.mit.edu 37 19 35173684 35173684 + Silent SNP G G A rs149807567 by1000genomes TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:35173684G>A uc002nvr.1 + 4 407 c.144G>A c.(142-144)GTG>GTA p.V48V ZNF302_uc010xrz.1_Silent_p.V4V|ZNF302_uc002nvp.1_Silent_p.V4V|ZNF302_uc002nvq.1_Silent_p.V4V|ZNF302_uc002nvs.1_Silent_p.V4V NM_018443 NP_060913 Q9NR11 ZN302_HUMAN zinc finger protein 302 Error:Variant_position_missing_in_Q9NR11_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TATTTCAGGTGACATTTAGTG 0.433 NA 7 64 0 0 0 0 TRAPPC6A 79090 broad.mit.edu 37 19 45681407 45681407 + Missense_Mutation SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:45681407C>G uc002paw.2 - 1 89 c.70G>C c.(70-72)GAC>CAC p.D24H TRAPPC6A_uc002pav.2_Missense_Mutation_p.D24H|BLOC1S3_uc002pax.3_5'Flank O75865 TPC6A_HUMAN SubName: Full=TRAPPC6Adelta29-42; SubName: Full=Trafficking protein particle complex 6A, isoform CRA_a; 24 vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding 0 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233) GGGCCGGGGTCGGGGTCGTGA 0.627 NA 5 43 0 0 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52715983 52715983 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:52715983G>A uc002pyp.2 + 5 707 c.548G>A c.(547-549)CGG>CAG p.R183Q PPP2R1A_uc010ydk.1_Missense_Mutation_p.R128Q|PPP2R1A_uc010epm.1_Missense_Mutation_p.R223Q|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R4Q NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 183 PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 5.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.R183W(16)|p.R183Q(7)|p.R183G(2) endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) ATGGTGCGGCGGGCCGCAGCC 0.562 NA Mis clear cell ovarian carcinoma 15 66 0 0 0 0 NLRP5 126206 broad.mit.edu 37 19 56539838 56539838 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:56539838G>C uc002qmj.2 + 7 2239 c.2239G>C c.(2239-2241)GAT>CAT p.D747H NLRP5_uc002qmi.2_Missense_Mutation_p.D728H NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 747 LRR 2. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTTCCCAAGAGATGAGTCCGC 0.517 NA 20 209 0 0 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43984289 43984289 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:43984289C>T uc010yny.1 + 26 3910 c.3827C>T c.(3826-3828)TCA>TTA p.S1276L NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 1276 FERM. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGACCTTTCTCAACTCCAGCA 0.333 NA 6 84 0 0 0 0 TMEM37 140738 broad.mit.edu 37 2 120194495 120194495 + Missense_Mutation SNP C C T rs141678483 TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:120194495C>T uc002tly.2 + 2 86 c.52C>T c.(52-54)CGC>TGC p.R18C NM_183240 NP_899063 Q8WXS4 CCGL_HUMAN transmembrane protein 37 18 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1) 1 AAGGCAGCCCCGCCGGTCCTT 0.612 NA 12 73 0 0 0 0 MYO7B 4648 broad.mit.edu 37 2 128389183 128389183 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:128389183C>T uc002top.2 + 37 5079 c.5026C>T c.(5026-5028)CGG>TGG p.R1676W MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1676 MyTH4 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ACCCATCCTCCGGTACATGGG 0.677 NA 7 34 0 0 0 0 PKP4 8502 broad.mit.edu 37 2 159535144 159535144 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:159535144G>C uc002tzv.2 + 21 3568 c.3308G>C c.(3307-3309)AGA>ACA p.R1103T PKP4_uc002tzw.2_Missense_Mutation_p.R1060T|PKP4_uc002tzx.2_Missense_Mutation_p.R760T|PKP4_uc002uaa.2_Missense_Mutation_p.R912T|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.R284T|PKP4_uc002uad.2_RNA NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 1103 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 TCACCAGCAAGAGAACAAAAT 0.383 NA HNSCC(62;0.18) 18 71 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202149644 202149644 + Missense_Mutation SNP A A G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:202149644A>G uc002uxr.1 + 9 1117 c.908A>G c.(907-909)GAC>GGC p.D303G CASP8_uc002uxp.1_Missense_Mutation_p.D320G|CASP8_uc002uxq.1_Missense_Mutation_p.D288G|CASP8_uc002uxt.1_Missense_Mutation_p.D362G|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.D288G|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.D219G NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 303 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 CAACTCATGGACCACAGTAAC 0.473 NA HNSCC(4;0.00038) 30 136 0 0 0 0 AGAP1 116987 broad.mit.edu 37 2 237032621 237032621 + Missense_Mutation SNP G G A rs150891900 TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:237032621G>A uc002vvs.2 + 18 3024 c.2429G>A c.(2428-2430)CGG>CAG p.R810Q AGAP1_uc002vvt.2_Missense_Mutation_p.R757Q NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 810 ANK 2. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 GCCTACGCCCGGCAGGCCTCC 0.637 NA 6 71 0 0 0 0 C20orf94 128710 broad.mit.edu 37 20 10604013 10604013 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr20:10604013G>A uc010zre.1 + 8 1393 c.1213G>A c.(1213-1215)GAA>AAA p.E405K NM_001009608 NP_001009608 Q5VYV7 CT094_HUMAN hypothetical protein LOC128710 405 protein binding 0 AAAGAAATACGAAAGAGGCCA 0.448 NA 6 63 0 0 0 0 SEC23B 10483 broad.mit.edu 37 20 18491571 18491571 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr20:18491571C>T uc002wqz.1 + 2 535 c.92C>T c.(91-93)GCT>GTT p.A31V SEC23B_uc002wra.1_Missense_Mutation_p.A31V|SEC23B_uc002wrb.1_Missense_Mutation_p.A31V|SEC23B_uc010zsb.1_Missense_Mutation_p.A31V|SEC23B_uc002wrc.1_Missense_Mutation_p.A31V NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 31 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 CGGCTGGAGGCTACAAGAATG 0.502 NA 8 103 0 0 0 0 ATP9A 10079 broad.mit.edu 37 20 50255990 50255990 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr20:50255990G>C uc002xwg.1 - 15 1560 c.1560C>G c.(1558-1560)GAC>GAG p.D520E ATP9A_uc010gih.1_Missense_Mutation_p.D384E|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 520 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 TGGAAGACTGGTCTCGGCCCA 0.542 NA OREG0026043 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 89 0 0 0 0 MOV10L1 54456 broad.mit.edu 37 22 50580618 50580618 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr22:50580618G>A uc003bjj.2 + 16 2262 c.2179G>A c.(2179-2181)GTA>ATA p.V727I MOV10L1_uc003bjk.3_Missense_Mutation_p.V727I|MOV10L1_uc011arp.1_Missense_Mutation_p.V707I|MOV10L1_uc011arq.1_Missense_Mutation_p.V488I|MOV10L1_uc010hao.1_RNA NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 727 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GAGCGATTGGGGTATGTGCTC 0.547 NA OREG0026672 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 36 0 0 0 0 TRIM71 131405 broad.mit.edu 37 3 32933083 32933083 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr3:32933083G>A uc003cff.2 + 4 2450 c.2387G>A c.(2386-2388)CGC>CAC p.R796H NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 796 NHL 5. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 CAGTTCCTGCGCCCACAAGGG 0.592 NA 9 74 0 0 0 0 FAM107A 11170 broad.mit.edu 37 3 58555543 58555543 + Silent SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr3:58555543C>G uc003dkm.2 - 3 604 c.45G>C c.(43-45)CTG>CTC p.L15L FAM107A_uc003dko.2_Silent_p.L46L|FAM107A_uc003dkn.2_Silent_p.L15L|FAM107A_uc010hnm.2_Silent_p.L43L|FAM107A_uc003dkp.1_Silent_p.L15L NM_007177 NP_009108 O95990 F107A_HUMAN downregulated in renal cell carcinoma 15 L -> M (in ovarian cancer and renal cell carcinoma cell lines). regulation of cell growth nucleus protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) GCCGGGCCATCAGGCCCCCAA 0.597 NA 12 95 0 0 0 0 PVRL3 25945 broad.mit.edu 37 3 110852576 110852576 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr3:110852576C>T uc003dxt.1 + 6 1164 c.1164C>T c.(1162-1164)CCC>CCT p.P388P PVRL3_uc003dxu.1_Intron NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 388 Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 AAAAATTGCCCTTCCCATTGT 0.443 NA 5 111 0 0 0 0 MFN1 55669 broad.mit.edu 37 3 179076745 179076745 + Missense_Mutation SNP A A C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr3:179076745A>C uc003fjs.2 + 4 492 c.366A>C c.(364-366)AAA>AAC p.K122N MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.K150N NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 122 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ATGGAGATAAAGCCTATCTTA 0.373 NA 10 79 0 0 0 0 HGFAC 3083 broad.mit.edu 37 4 3445789 3445789 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:3445789G>A uc003ghc.2 + 5 502 c.499G>A c.(499-501)GGC>AGC p.G167S HGFAC_uc010icw.2_Missense_Mutation_p.G167S NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 167 EGF-like 1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTGTGCCTCCGGCCCCTGCCT 0.662 NA 9 59 0 0 0 0 SORCS2 57537 broad.mit.edu 37 4 7726911 7726911 + Missense_Mutation SNP T T C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:7726911T>C uc003gkb.3 + 20 2642 c.2642T>C c.(2641-2643)GTT>GCT p.V881A SORCS2_uc011bwi.1_Missense_Mutation_p.V709A NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 881 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 CTGGAGGTGGTTCCTGTCATT 0.577 NA 18 61 0 0 0 0 SCLT1 132320 broad.mit.edu 37 4 129864211 129864211 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:129864211C>T uc003igp.2 - 17 2078 c.1572G>A c.(1570-1572)CGG>CGA p.R524R SCLT1_uc003ign.2_Silent_p.R188R|SCLT1_uc003igo.2_Silent_p.R134R|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 524 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 CAGTCTCTTTCCGTAACTGTT 0.363 NA 8 92 0 0 0 0 SCLT1 132320 broad.mit.edu 37 4 129873944 129873944 + Nonsense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:129873944C>A uc003igp.2 - 14 1704 c.1198G>T c.(1198-1200)GAA>TAA p.E400* SCLT1_uc003ign.2_Nonsense_Mutation_p.E64*|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 400 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 GCTGAAAGTTCTTCTGTTAAT 0.269 NA 8 90 0.000157383 0.000166409 1 0 ZNF827 152485 broad.mit.edu 37 4 146767142 146767142 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:146767142G>A uc003ikn.2 - 7 2293 c.2245C>T c.(2245-2247)CAT>TAT p.H749Y ZNF827_uc003ikm.2_Missense_Mutation_p.H749Y|ZNF827_uc010iox.2_Missense_Mutation_p.H399Y NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 749 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) TCTTTTGTATGATTGTGCTCT 0.463 NA 4 48 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187541184 187541184 + Missense_Mutation SNP A A C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:187541184A>C uc003izf.2 - 10 6744 c.6556T>G c.(6556-6558)TTC>GTC p.F2186V NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2186 Extracellular (Potential).|Cadherin 20. 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 GCACTGTAGAAAGGTTTTTCA 0.507 NA HNSCC(5;0.00058) 6 75 0 0 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33624346 33624346 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:33624346C>T uc003jia.1 - 14 2296 c.2133G>A c.(2131-2133)AAG>AAA p.K711K ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 711 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CAGATCCTTCCTTCTGCTTAA 0.453 NA HNSCC(64;0.19) 6 104 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41008749 41008749 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:41008749C>T uc003jmj.3 - 33 4057 c.3567G>A c.(3565-3567)GTG>GTA p.V1189V HEATR7B2_uc003jmi.3_Silent_p.V744V NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1189 HEAT 13. binding ovary(6)|central_nervous_system(2) 8 CCTGCTGCATCACATGCCGCC 0.567 NA 5 39 0 0 0 0 DDX4 54514 broad.mit.edu 37 5 55082475 55082475 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:55082475G>A uc003jqg.3 + 14 1068 c.994G>A c.(994-996)GCT>ACT p.A332T DDX4_uc010ivz.2_Missense_Mutation_p.A312T|DDX4_uc003jqh.3_Missense_Mutation_p.A298T|DDX4_uc003jqj.2_Missense_Mutation_p.A183T NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 332 ATP (By similarity).|Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GATGGCTTGCGCTCAAACAGG 0.398 NA 8 136 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79030604 79030604 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:79030604G>C uc003kgc.2 + 2 6088 c.6016G>C c.(6016-6018)GAG>CAG p.E2006Q NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2006 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AAACATAGCAGAGGGGAAGGA 0.408 NA 5 45 0 0 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140799485 140799485 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:140799485G>A uc003lkn.1 + 1 2204 c.2059G>A c.(2059-2061)GAG>AAG p.E687K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.E687K|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 687 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCCAGGCTGAGATGCAGTT 0.552 NA 8 72 0 0 0 0 ODZ2 57451 broad.mit.edu 37 5 167689098 167689098 + Silent SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:167689098C>G uc010jjd.2 + 29 7581 c.7581C>G c.(7579-7581)GCC>GCG p.A2527A ODZ2_uc003lzr.3_Silent_p.A2297A|ODZ2_uc003lzt.3_Silent_p.A1900A|ODZ2_uc010jje.2_Silent_p.A1791A NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ATAACCAGGCCTTCATGGCTC 0.507 NA 6 42 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169477279 169477279 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:169477279G>A uc003maf.2 + 41 4171 c.4091G>A c.(4090-4092)CGC>CAC p.R1364H DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R856H NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1364 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCATCTACCGCGGGAAGGAA 0.502 NA 19 175 0 0 0 0 HK3 3101 broad.mit.edu 37 5 176314244 176314244 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:176314244G>C uc003mfa.2 - 12 1787 c.1695C>G c.(1693-1695)ATC>ATG p.I565M HK3_uc003mez.2_Missense_Mutation_p.I121M NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 565 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAATGGAGTAGATCTCGCTGG 0.622 NA 11 55 0 0 0 0 GPR116 221395 broad.mit.edu 37 6 46847692 46847692 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr6:46847692G>A uc003oyo.3 - 9 1188 c.899C>T c.(898-900)TCC>TTC p.S300F GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.S300F|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Missense_Mutation_p.S300F NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 300 Ig-like 1.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) AGACACATTGGAGGACAAAAC 0.438 NA 9 80 0 0 0 0 CCDC28A 25901 broad.mit.edu 37 6 139101031 139101031 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr6:139101031C>T uc003qie.2 + 3 656 c.501C>T c.(499-501)TCC>TCT p.S167S NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 167 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TCCAGCACTCCTTCCTCACTG 0.453 NA 10 82 0 0 0 0 SEMA3E 9723 broad.mit.edu 37 7 83014672 83014672 + Nonsense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr7:83014672G>A uc003uhy.1 - 16 2279 c.1813C>T c.(1813-1815)CGA>TGA p.R605* NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 605 Ig-like C2-type. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) TGTAAAGATCGTGGGGTACAT 0.398 NA 20 132 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94051241 94051241 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr7:94051241C>T uc003ung.1 + 39 2851 c.2380C>T c.(2380-2382)CGG>TGG p.R794W COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 794 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGCTGCTGGACGGACTGGTCC 0.458 NA HNSCC(75;0.22) 6 57 0 0 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99117510 99117510 + Nonsense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr7:99117510C>A uc003uqv.2 + 4 738 c.614C>A c.(613-615)TCA>TAA p.S205* ZKSCAN5_uc010lfx.2_Nonsense_Mutation_p.S205*|ZKSCAN5_uc003uqw.2_Nonsense_Mutation_p.S205*|ZKSCAN5_uc003uqx.2_Intron|ZKSCAN5_uc003uqy.2_5'UTR NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 205 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CTGACAGCTTCACTTCTCTCA 0.517 NA 11 69 2.27e-07 2.43e-07 1 0 IQUB 154865 broad.mit.edu 37 7 123142651 123142651 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr7:123142651C>T uc003vkn.2 - 6 1600 c.1023G>A c.(1021-1023)GCG>GCA p.A341A IQUB_uc003vko.2_Silent_p.A341A|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.A341A|IQUB_uc003vkq.2_3'UTR NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 341 IQ. ovary(3)|large_intestine(1) 4 GTTATCTCACCGCCTTTAGTC 0.358 NA 6 71 0 0 0 0 XPO7 23039 broad.mit.edu 37 8 21843104 21843104 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr8:21843104G>A uc003xaa.3 + 13 1581 c.1479G>A c.(1477-1479)CTG>CTA p.L493L XPO7_uc010lti.2_Silent_p.L502L|XPO7_uc010ltk.2_Silent_p.L494L NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 493 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CAGGAAGGCTGACATGGCTGG 0.498 NA 40 139 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103305835 103305835 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr8:103305835G>A uc003ykr.1 - 34 4620 c.4587C>T c.(4585-4587)AGC>AGT p.S1529S UBR5_uc003yks.1_Silent_p.S1529S NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1529 Poly-Ser. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CAATTTACCTGCTAGACTGAT 0.433 NA 11 99 0 0 0 0 TRAPPC9 83696 broad.mit.edu 37 8 140744267 140744267 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr8:140744267G>A uc003yvj.2 - 22 3368 c.3234C>T c.(3232-3234)CAC>CAT p.H1078H TRAPPC9_uc003yvh.2_Silent_p.H1176H NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 1078 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 AGACGGTGTCGTGCAGGTCGT 0.657 NA 5 11 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144940690 144940690 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr8:144940690G>A uc003zaa.1 - 2 14755 c.14742C>T c.(14740-14742)AGC>AGT p.S4914S NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 4914 Plectin 61. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTGGTAGATGCTCATCTTCT 0.711 NA 7 102 0 0 0 0 KIAA1797 54914 broad.mit.edu 37 9 20789459 20789459 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:20789459C>T uc003zog.1 + 13 1670 c.1307C>T c.(1306-1308)GCT>GTT p.A436V NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 436 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) GACTGGTTGGCTTCAGTAGAG 0.463 NA 11 84 0 0 0 0 IGFBPL1 347252 broad.mit.edu 37 9 38414183 38414183 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:38414183G>A uc004aba.2 - 2 501 c.478C>T c.(478-480)CCT>TCT p.P160S NM_001007563 NP_001007564 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 160 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding 0 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) CTTCGGGGAGGAACGACGACC 0.592 NA 6 83 0 0 0 0 PRUNE2 158471 broad.mit.edu 37 9 79465512 79465512 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:79465512C>T uc010mpk.2 - 3 335 c.211G>A c.(211-213)GAG>AAG p.E71K PRUNE2_uc004akn.2_Missense_Mutation_p.E71K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 71 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AACCTCGTCTCGGTGAAGTAG 0.393 NA 16 151 0 0 0 0 DAPK1 1612 broad.mit.edu 37 9 90321943 90321943 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:90321943G>A uc004apc.2 + 26 4095 c.3957G>A c.(3955-3957)CCG>CCA p.P1319P DAPK1_uc004apd.2_Silent_p.P1319P|DAPK1_uc011ltg.1_Silent_p.P1253P|DAPK1_uc011lth.1_Silent_p.P1056P|DAPK1_uc004apg.2_Silent_p.P296P NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 1319 Death. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 TGCTGGACCCGCCCGACCCCC 0.602 NA Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 9 106 0 0 0 0 CENPP 401541 broad.mit.edu 37 9 95094556 95094556 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:95094556G>C uc004arz.2 + 2 752 c.212G>C c.(211-213)AGT>ACT p.S71T CENPP_uc010mqx.2_Intron|CENPP_uc004ary.1_Missense_Mutation_p.S71T NM_001012267 NP_001012267 Q6IPU0 CENPP_HUMAN centromere protein P 71 Potential. CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm ovary(2) 2 TCATTTCTAAGTACGCTTACT 0.348 NA 4 31 0 0 0 0 TMOD1 7111 broad.mit.edu 37 9 100331211 100331211 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:100331211G>A uc004axk.1 + 8 975 c.762G>A c.(760-762)TTG>TTA p.L254L TMOD1_uc004axl.1_Silent_p.L254L NM_003275 NP_003266 P28289 TMOD1_HUMAN tropomodulin 1 254 muscle filament sliding cytosol actin binding 0 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) ACAAGGTGTTGAAGACACTGA 0.507 NA 13 107 0 0 0 0 TMOD1 7111 broad.mit.edu 37 9 100331220 100331220 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:100331220G>A uc004axk.1 + 8 984 c.771G>A c.(769-771)CTG>CTA p.L257L TMOD1_uc004axl.1_Silent_p.L257L NM_003275 NP_003266 P28289 TMOD1_HUMAN tropomodulin 1 257 muscle filament sliding cytosol actin binding 0 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) TGAAGACACTGAATGTGGAAT 0.498 NA 15 102 0 0 0 0 GALNT12 79695 broad.mit.edu 37 9 101585618 101585618 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:101585618C>T uc004ayz.2 + 2 452 c.452C>T c.(451-453)ACT>ATT p.T151I NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN N-acetylgalactosaminyltransferase 12 151 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(62;0.0559) GCCTGGTCAACTCTCCTTCGG 0.428 NA 5 84 0 0 0 0 FNBP1 23048 broad.mit.edu 37 9 132740854 132740854 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:132740854C>T uc004byw.1 - 4 454 c.235G>A c.(235-237)GAA>AAA p.E79K FNBP1_uc011mbv.1_Missense_Mutation_p.E79K|FNBP1_uc011mbw.1_Missense_Mutation_p.E79K|FNBP1_uc004bza.2_Missense_Mutation_p.E79K|FNBP1_uc004byz.1_Missense_Mutation_p.E79K|FNBP1_uc004byx.1_5'UTR|FNBP1_uc004byy.1_5'UTR NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN formin binding protein 1 79 Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding 0 Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) TCATTCATTTCGTTCAGGTTG 0.433 NA T MLL AML 7 50 0 0 0 0 CACNA1B 774 broad.mit.edu 37 9 141016410 141016410 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:141016410C>T uc004cog.2 + 46 7124 c.6979C>T c.(6979-6981)CGG>TGG p.R2327W CACNA1B_uc004coi.2_Missense_Mutation_p.R1539W NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 2327 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGGCCGAGCACGGCACAGCTA 0.637 NA 9 39 0 0 0 0 PTPRN2 5799 broad.mit.edu 37 7 158380276 158380277 + Frame_Shift_Ins INS - - G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr7:158380276_158380277insG uc003wno.2 - 1 206_207 c.85_86insC c.(85-87)CGCfs p.R29fs PTPRN2_uc003wnp.2_Frame_Shift_Ins_p.R29fs|PTPRN2_uc003wnq.2_Frame_Shift_Ins_p.R29fs|PTPRN2_uc003wnr.2_Frame_Shift_Ins_p.R29fs NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 29 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTGCCGGCCGCGGGGGACGGAC 0.594 NA 2 4 --- --- --- --- NA NA NA NA SURF2 6835 broad.mit.edu 37 9 136226880 136226882 + In_Frame_Del DEL GGA GGA - rs149969130 TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:136226880_136226882delGGA uc004cdi.2 + 4 440_442 c.392_394delGGA c.(391-396)CGGAGG>CGG p.131_132RR>R NM_017503 NP_059973 Q15527 SURF2_HUMAN surfeit 2 131_132 protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) CTGGTGCACCGGAGGAGGAGGAG 0.635 NA 7 35 --- --- --- --- NA NA NA NA RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chrX:47030561_47030563delGGA uc004dhf.2 + 4 715_717 c.336_338delGGA c.(334-339)GGGGAG>GGG p.E119del RBM10_uc004dhe.1_In_Frame_Del_p.E109del|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_In_Frame_Del_p.E119del|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_In_Frame_Del_p.E184del NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 119 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 CCGAGCAAGGggaggaggaggag 0.522 NA 4 9 --- --- --- --- NA NA NA NA