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 CROCC 9696 broad.mit.edu 37 1 17256382 17256382 + Silent SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:17256382G>T uc001azt.2 + 4 462 c.393G>T c.(391-393)ACG>ACT p.T131T CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_5'UTR NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 131 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGCTGGAGACGCAGGAGCCCA 0.697 NA 7 5 0.00307968 0.00324987 1 0 PAFAH2 5051 broad.mit.edu 37 1 26301058 26301058 + Missense_Mutation SNP T T G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:26301058T>G uc001bld.3 - 9 1022 c.842A>C c.(841-843)AAT>ACT p.N281T PAFAH2_uc001ble.3_Missense_Mutation_p.N281T NM_000437 NP_000428 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2 281 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding ovary(2) 2 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) TTTCTCAGTATTGATAAAGAA 0.468 NA 19 15 0 0 0 0 ARID1A 8289 broad.mit.edu 37 1 27089635 27089635 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:27089635G>T uc001bmv.1 + 8 2964 c.2591G>T c.(2590-2592)GGC>GTC p.G864V ARID1A_uc001bmt.1_Missense_Mutation_p.G864V|ARID1A_uc001bmu.1_Missense_Mutation_p.G864V|ARID1A_uc001bmw.1_Missense_Mutation_p.G481V NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 864 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCCTCCATGGGCAACCGGCCT 0.587 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 24 23 3.29e-13 3.79e-13 1 0 CLCA2 9635 broad.mit.edu 37 1 86913313 86913313 + Silent SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:86913313A>G uc001dlr.3 + 11 1998 c.1836A>G c.(1834-1836)GAA>GAG p.E612E NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 612 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CCTTTGTGGAAAGAGACAGCC 0.493 NA 55 108 0 0 0 0 AGL 178 broad.mit.edu 37 1 100358058 100358058 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:100358058A>G uc001dsi.1 + 24 3554 c.3154A>G c.(3154-3156)AAA>GAA p.K1052E AGL_uc001dsj.1_Missense_Mutation_p.K1052E|AGL_uc001dsk.1_Missense_Mutation_p.K1052E|AGL_uc001dsl.1_Missense_Mutation_p.K1052E|AGL_uc001dsm.1_Missense_Mutation_p.K1036E|AGL_uc001dsn.1_Missense_Mutation_p.K1035E NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1052 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TGGAGTAGGAAAATTCCCTTC 0.378 NA 29 47 0 0 0 0 LINGO4 339398 broad.mit.edu 37 1 151774779 151774779 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:151774779C>T uc001ezf.1 - 2 592 c.402G>A c.(400-402)CTG>CTA p.L134L NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 134 Extracellular (Potential).|LRR 4. integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCAGCAGGGTCAGAGCAGAGA 0.597 NA 92 76 0 0 0 0 CD1A 909 broad.mit.edu 37 1 158226702 158226702 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:158226702A>T uc001frt.2 + 4 1264 c.731A>T c.(730-732)CAG>CTG p.Q244L NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 244 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GAGCAGGAGCAGCAGGGCACT 0.642 NA 39 80 0 0 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054148 160054148 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:160054148G>C uc001fuy.1 + 2 570 c.328G>C c.(328-330)GCC>CCC p.A110P NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 110 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTCGTGGCCGCCTTCCTCTT 0.677 NA 24 39 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237949308 237949308 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:237949308G>C uc001hyl.1 + 91 13420 c.13300G>C c.(13300-13302)GAA>CAA p.E4434Q RYR2_uc010pya.1_Missense_Mutation_p.E849Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4434 Potential.|Glu-rich (acidic). 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) agaaaaagaagaaACCAAATC 0.318 NA 3 3 0 0 0 0 OR2T12 127064 broad.mit.edu 37 1 248458473 248458473 + Nonsense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:248458473C>T uc010pzj.1 - 1 408 c.408G>A c.(406-408)TGG>TGA p.W136* NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GGCACAGCTGCCAGCTCATGA 0.607 NA 29 44 0 0 0 0 FAM178A 55719 broad.mit.edu 37 10 102684308 102684308 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr10:102684308A>G uc001krt.3 + 5 2092 c.1550A>G c.(1549-1551)GAA>GGA p.E517G FAM178A_uc001krr.1_Missense_Mutation_p.E517G|FAM178A_uc001krs.2_Missense_Mutation_p.E517G|FAM178A_uc001kru.1_Missense_Mutation_p.E452G NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 517 0 CATTCTACAGAATCCACCAAA 0.393 NA 58 88 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108371726 108371726 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr10:108371726C>T uc001kym.2 - 22 2984 c.2976G>A c.(2974-2976)CCG>CCA p.P992P SORCS1_uc001kyl.2_Silent_p.P992P|SORCS1_uc009xxs.2_Silent_p.P992P|SORCS1_uc001kyn.1_Silent_p.P992P|SORCS1_uc001kyo.2_Silent_p.P992P NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 992 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CAGGGATGTCCGGGTTGTAGT 0.483 NA 27 52 0 0 0 0 FAM160B1 57700 broad.mit.edu 37 10 116590627 116590627 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr10:116590627C>G uc001lcb.2 + 2 397 c.62C>G c.(61-63)CCT>CGT p.P21R FAM160B1_uc001lcc.2_Missense_Mutation_p.P21R NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 21 lung(1) 1 CCTTCTCTTCCTTTACAAGAA 0.318 NA 27 52 0 0 0 0 ZNF214 7761 broad.mit.edu 37 11 7021319 7021319 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:7021319C>T uc001mfa.2 - 3 1898 c.1595G>A c.(1594-1596)GGA>GAA p.G532E ZNF214_uc010ray.1_Missense_Mutation_p.G532E|ZNF214_uc009yfh.1_Missense_Mutation_p.G532E NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 532 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) AAAACCCTTTCCACAATCATG 0.413 NA 34 36 0 0 0 0 RRAS2 22800 broad.mit.edu 37 11 14316390 14316390 + Missense_Mutation SNP T T A rs113954997 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:14316390T>A uc001mlf.3 - 3 528 c.215A>T c.(214-216)CAA>CTA p.Q72L RRAS2_uc009ygq.2_5'UTR|RRAS2_uc010rco.1_Missense_Mutation_p.Q78L NM_012250 NP_036382 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 72 GTP (By similarity). Q -> L (in an ovarian cancer sample; somatic mutation). endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(1) 1 Epithelial(150;0.203) AAACTCTTCTTGTCCTGCTGT 0.393 NA 59 47 0 0 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68696742 68696742 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:68696742C>T uc001ook.1 + 8 1254 c.1152C>T c.(1150-1152)AGC>AGT p.S384S IGHMBP2_uc001ooj.1_RNA|IGHMBP2_uc001ool.1_5'Flank NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 384 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCGAGGCGAGCTGCTGGATCC 0.622 NA 64 112 0 0 0 0 DLG2 1740 broad.mit.edu 37 11 84996292 84996292 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:84996292C>T uc001pak.2 - 4 470 c.158G>A c.(157-159)TGC>TAC p.C53Y NM_001142699 NP_001136171 Q15700 DLG2_HUMAN chapsyn-110 isoform 1 Error:Variant_position_missing_in_Q15700_after_alignment cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCTGTCATGGCACGGAGCAAG 0.383 NA 50 111 0 0 0 0 TMEM133 83935 broad.mit.edu 37 11 100863058 100863058 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:100863058G>T uc001pgf.2 + 1 248 c.19G>T c.(19-21)GTA>TTA p.V7L NM_032021 NP_114410 Q9H2Q1 TM133_HUMAN transmembrane protein 133 7 integral to membrane 0 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) ACATCACTGCGTAGGACCCGG 0.428 NA 24 46 7.88e-14 9.15e-14 1 0 MCAM 4162 broad.mit.edu 37 11 119181165 119181165 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:119181165G>A uc001pwf.2 - 15 1834 c.1805C>T c.(1804-1806)CCG>CTG p.P602L MCAM_uc001pwg.1_Intron NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule 602 Cytoplasmic (Potential). anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane ovary(2)|breast(1)|central_nervous_system(1) 4 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CTTACGAGACGGGGGTAGCGT 0.587 NA 64 111 0 0 0 0 ROBO4 54538 broad.mit.edu 37 11 124756993 124756993 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:124756993G>T uc001qbg.2 - 15 2455 c.2315C>A c.(2314-2316)CCA>CAA p.P772Q ROBO4_uc010sas.1_Missense_Mutation_p.P627Q|ROBO4_uc001qbh.2_Missense_Mutation_p.P662Q|ROBO4_uc001qbi.2_Missense_Mutation_p.P330Q NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 772 Pro/Ser-rich. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ACTGGAAGCTGGGCTGGGGCC 0.652 NA 14 37 1.5e-05 1.62e-05 1 0 RECQL 5965 broad.mit.edu 37 12 21630754 21630754 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:21630754G>A uc001rex.2 - 8 1198 c.850C>T c.(850-852)CCA>TCA p.P284S RECQL_uc001rey.2_Missense_Mutation_p.P284S NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 284 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 TATAGATTTGGCCTATTAAAA 0.328 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 18 52 0 0 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918866 21918866 + Nonsense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:21918866G>A uc001rff.2 - 3 1404 c.1066C>T c.(1066-1068)CGA>TGA p.R356* NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 356 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) TCCAGCTCTCGGGCACTGCAC 0.463 NA 61 155 0 0 0 0 FAM113B 91523 broad.mit.edu 37 12 47629946 47629946 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:47629946T>C uc001rpn.2 + 4 1831 c.1100T>C c.(1099-1101)TTC>TCC p.F367S FAM113B_uc001rpq.2_Missense_Mutation_p.F367S NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 367 Pro-rich. hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) CATGCAGGTTTCTTCGTCGAA 0.522 NA 88 182 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49420628 49420628 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:49420628C>T uc001rta.3 - 48 15121 c.15121G>A c.(15121-15123)GGG>AGG p.G5041R NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5041 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCAGTGGCCCCGTCACCCTCC 0.607 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 24 114 0 0 0 0 LRRC10 376132 broad.mit.edu 37 12 70004207 70004207 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:70004207C>T uc001svc.2 - 1 736 c.412G>A c.(412-414)GAT>AAT p.D138N NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 138 LRR 4. nucleus 0 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CAGACCACATCCGGCAGCTGG 0.632 NA 22 107 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78225481 78225481 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:78225481C>A uc001syp.2 + 1 413 c.240C>A c.(238-240)AGC>AGA p.S80R NAV3_uc001syo.2_Missense_Mutation_p.S80R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 80 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAGAAGACAGCAAGGTTAGTT 0.413 NA HNSCC(70;0.22) 38 13 8.16e-20 9.68e-20 1 0 WSCD2 9671 broad.mit.edu 37 12 108634152 108634152 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:108634152C>T uc001tms.2 + 8 1920 c.1176C>T c.(1174-1176)AGC>AGT p.S392S WSCD2_uc001tmt.2_Silent_p.S392S|WSCD2_uc001tmu.2_Silent_p.S140S NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 392 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 ACTGGCGCAGCGGACGGACCA 0.607 NA 118 58 0 0 0 0 SELPLG 6404 broad.mit.edu 37 12 109016914 109016914 + Silent SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:109016914C>A uc001tni.2 - 2 1330 c.1170G>T c.(1168-1170)CCG>CCT p.P390P SELPLG_uc001tnh.2_Silent_p.P380P|SELPLG_uc010sxe.1_Silent_p.P406P NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 390 Cytoplasmic (Potential). blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 GCGTCAGGCCCGGGCTCTTGG 0.642 NA 19 5 1.16e-05 1.25e-05 1 0 BRCA2 675 broad.mit.edu 37 13 32972595 32972595 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr13:32972595A>T uc001uub.1 + 27 10172 c.9945A>T c.(9943-9945)AAA>AAT p.K3315N NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3315 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAAAGAAAAAAGAACTGAATT 0.368 NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 33 54 0 0 0 0 SUGT1 10910 broad.mit.edu 37 13 53233376 53233376 + Missense_Mutation SNP A A G rs12875900 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr13:53233376A>G uc001vhc.2 + 5 545 c.320A>G c.(319-321)AAA>AGA p.K107R SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Missense_Mutation_p.K107R|SUGT1_uc010thb.1_Missense_Mutation_p.K51R|SUGT1_uc001vhd.2_5'UTR NM_001130912 NP_001124384 Q9Y2Z0 SUGT1_HUMAN suppressor of G2 allele of SKP1 isoform a 107 TPR 3. mitosis kinetochore|ubiquitin ligase complex binding 0 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) GAAGGACAAAAATTAGATAGT 0.249 NA 12 12 0 0 0 0 RASA3 22821 broad.mit.edu 37 13 114758033 114758033 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr13:114758033C>G uc001vui.2 - 22 2304 c.2173G>C c.(2173-2175)GAT>CAT p.D725H RASA3_uc010tkk.1_Missense_Mutation_p.D693H|RASA3_uc001vuj.2_Missense_Mutation_p.D342H NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 725 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CGGTCCCCATCAATGTCCAGC 0.483 NA 16 31 0 0 0 0 KTN1 3895 broad.mit.edu 37 14 56142559 56142559 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr14:56142559G>C uc001xcb.2 + 42 4080 c.3778G>C c.(3778-3780)GCA>CCA p.A1260P KTN1_uc001xce.2_Missense_Mutation_p.A1203P|KTN1_uc001xcc.2_Missense_Mutation_p.A1260P|KTN1_uc001xcd.2_Missense_Mutation_p.A1209P|KTN1_uc010trb.1_Missense_Mutation_p.A1232P|KTN1_uc001xcf.1_Missense_Mutation_p.A1209P|KTN1_uc010aoq.2_Missense_Mutation_p.A498P|KTN1_uc010trc.1_Missense_Mutation_p.A237P|KTN1_uc001xcg.2_Missense_Mutation_p.A193P NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 1260 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 ACAGTTGAAGGCACAGTTAAA 0.368 NA T RET papillary thryoid 15 46 0 0 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633852 70633852 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr14:70633852A>T uc001xly.2 - 2 2042 c.1288T>A c.(1288-1290)TAT>AAT p.Y430N SLC8A3_uc001xlw.2_Missense_Mutation_p.Y430N|SLC8A3_uc001xlx.2_Missense_Mutation_p.Y430N|SLC8A3_uc001xlz.2_Missense_Mutation_p.Y430N|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 430 Calx-beta 1.|Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TAGTCCACATACATGGTCTTT 0.522 NA 73 112 0 0 0 0 C14orf102 55051 broad.mit.edu 37 14 90767686 90767686 + Missense_Mutation SNP C C T rs150270537 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr14:90767686C>T uc001xyi.1 - 7 1473 c.1442G>A c.(1441-1443)CGG>CAG p.R481Q C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.R250Q NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 481 protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) GCCAGCCTGCCGCAGAAAGTG 0.517 NA 20 32 0 0 0 0 MKRN3 7681 broad.mit.edu 37 15 23811475 23811475 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr15:23811475C>T uc001ywh.3 + 1 1022 c.546C>T c.(544-546)GCC>GCT p.A182A MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A182A NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 182 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCTTTGAAGCCGAGAGAGACA 0.617 NA 22 32 0 0 0 0 CHST14 113189 broad.mit.edu 37 15 40763950 40763950 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr15:40763950C>A uc001zlw.2 + 1 738 c.538C>A c.(538-540)CTC>ATC p.L180I NM_130468 NP_569735 Q8NCH0 CHSTE_HUMAN dermatan 4 sulfotransferase 1 180 Lumenal (Potential). carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding 0 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) GGACGTCCGCCTCAAGATGGA 0.602 NA 39 51 2.36e-20 2.82e-20 1 0 LIPC 3990 broad.mit.edu 37 15 58834054 58834054 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr15:58834054T>C uc010bga.1 + 5 952 c.344T>C c.(343-345)GTG>GCG p.V115A LIPC_uc010bfz.1_Missense_Mutation_p.V115A|LIPC_uc002afa.1_Missense_Mutation_p.V115A|LIPC_uc010bgb.1_Missense_Mutation_p.V13A|LIPC_uc010ugy.1_Intron NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 115 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) GCCCAGCCAGTGAACGTGGGG 0.652 NA 15 24 0 0 0 0 CLEC16A 23274 broad.mit.edu 37 16 11097000 11097000 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:11097000C>T uc002dao.2 + 11 1371 c.1141C>T c.(1141-1143)CAC>TAC p.H381Y CLEC16A_uc002dan.3_Missense_Mutation_p.H379Y NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 381 ovary(1)|central_nervous_system(1) 2 GATGAACAAGCACAAGGGCAA 0.537 NA 13 34 0 0 0 0 CDH8 1006 broad.mit.edu 37 16 61859022 61859022 + Silent SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:61859022A>T uc002eog.1 - 5 981 c.729T>A c.(727-729)GTT>GTA p.V243V CDH8_uc002eoh.2_Silent_p.V12V NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 243 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGGCTTGGATAACAACCAGGT 0.458 NA 16 72 0 0 0 0 CDH3 1001 broad.mit.edu 37 16 68729736 68729736 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:68729736C>T uc002ewf.2 + 15 3322 c.2190C>T c.(2188-2190)CTC>CTT p.L730L CDH3_uc010vli.1_Silent_p.L675L NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 730 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) AGGTGGTTCTCCGCAATGACG 0.582 NA 73 62 0 0 0 0 SF3B3 23450 broad.mit.edu 37 16 70590203 70590203 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:70590203A>T uc002ezf.2 + 14 2043 c.1832A>T c.(1831-1833)GAC>GTC p.D611V NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 611 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) GGGCTTGTGGACAACACTGTC 0.542 NA 84 179 0 0 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555134 76555134 + Silent SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:76555134T>C uc002feu.1 + 18 2848 c.2463T>C c.(2461-2463)TTT>TTC p.F821F CNTNAP4_uc002fev.1_Silent_p.F685F|CNTNAP4_uc010chb.1_Silent_p.F748F|CNTNAP4_uc002fex.1_Silent_p.F824F NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 821 Extracellular (Potential).|Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CTTTCTTTTTTAAGACAACAG 0.408 NA 62 202 0 0 0 0 FBXO31 79791 broad.mit.edu 37 16 87376494 87376494 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:87376494C>A uc002fjw.2 - 5 765 c.721G>T c.(721-723)GGG>TGG p.G241W FBXO31_uc010vot.1_Missense_Mutation_p.G69W|FBXO31_uc002fjv.2_Missense_Mutation_p.G133W NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 241 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) TCCTGCCTCCCGCCGGACATC 0.557 NA 9 8 0.00621372 0.0065399 1 0 ZC3H18 124245 broad.mit.edu 37 16 88689626 88689626 + Splice_Site SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:88689626G>A uc002fky.2 + 10 1868 c.1668_splice c.e10-1 p.R556_splice ZC3H18_uc010voz.1_Splice_Site_p.R580_splice|ZC3H18_uc010chw.2_Splice_Site NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) GCCCGCCCCAGGTCGTCTTCG 0.512 NA 29 25 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578553 7578553 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:7578553T>C uc002gim.2 - 5 571 c.377A>G c.(376-378)TAC>TGC p.Y126C TP53_uc002gig.1_Missense_Mutation_p.Y126C|TP53_uc002gih.2_Missense_Mutation_p.Y126C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.Y126C|TP53_uc010cni.1_Missense_Mutation_p.Y126C|TP53_uc002gij.2_Missense_Mutation_p.Y126C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y33C|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.Y87C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 126 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.Y126*(9)|p.0?(7)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126D(3)|p.Y126_N131delYSPALN(3)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126Y(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*24(1)|p.Y126fs*18(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) GGCAGGGGAGTACTGTAGGAA 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 44 10 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10369589 10369589 + Splice_Site SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:10369589C>A uc002gmn.2 - 4 459 c.348_splice c.e4+1 p.Y116_splice uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 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 AGGGTGCTCACGTAGATCATC 0.433 NA 43 85 1.57e-16 1.83e-16 1 0 ITGB3 3690 broad.mit.edu 37 17 45368453 45368453 + Missense_Mutation SNP C C T rs147758772 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:45368453C>T uc002ilj.2 + 9 1279 c.1259C>T c.(1258-1260)ACG>ATG p.T420M ITGB3_uc002ili.1_Missense_Mutation_p.T420M|ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 420 Extracellular (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) ATTGGAGACACGGTGAGGTGG 0.542 NA 30 84 0 0 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171810 68171810 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:68171810G>A uc010dfg.2 + 2 1031 c.630G>A c.(628-630)TTG>TTA p.L210L KCNJ2_uc002jir.2_Silent_p.L210L NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 210 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) AGCTGTGTTTGATGTGGCGAG 0.498 NA 34 56 0 0 0 0 EVPL 2125 broad.mit.edu 37 17 74019475 74019475 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:74019475C>T uc002jqi.2 - 4 606 c.378G>A c.(376-378)GTG>GTA p.V126V EVPL_uc010wss.1_Silent_p.V126V|EVPL_uc010wst.1_5'UTR NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 126 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 ACTCCTGGGTCACCCGCTCGT 0.672 NA 28 72 0 0 0 0 MAST1 22983 broad.mit.edu 37 19 12975624 12975624 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:12975624C>T uc002mvm.2 + 13 1496 c.1368C>T c.(1366-1368)GGC>GGT p.G456G NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 456 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 GGCCTGCAGGCGGCGACTGTG 0.507 NA 19 36 0 0 0 0 SLC5A5 6528 broad.mit.edu 37 19 18001748 18001748 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:18001748C>T uc002nhr.3 + 14 2052 c.1705C>T c.(1705-1707)CGG>TGG p.R569W NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 569 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 GGACCTCGCACGGCAGACAGC 0.602 NA 75 130 0 0 0 0 ZNF285 26974 broad.mit.edu 37 19 44890792 44890792 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:44890792G>C uc002ozd.3 - 4 1702 c.1615C>G c.(1615-1617)CCC>GCC p.P539A ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.P546A NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 539 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 CACTTATAGGGCCTCTCTCTT 0.438 NA 39 19 0 0 0 0 ZNF83 55769 broad.mit.edu 37 19 53117347 53117347 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:53117347G>A uc002pzu.3 - 2 1715 c.471C>T c.(469-471)GTC>GTT p.V157V ZNF83_uc002pzv.3_Silent_p.V157V|ZNF83_uc010eps.2_Silent_p.V157V|ZNF83_uc010ept.2_Silent_p.V157V|ZNF83_uc010epu.2_Silent_p.V157V|ZNF83_uc010epv.2_Silent_p.V157V|ZNF83_uc010epw.2_Silent_p.V157V|ZNF83_uc010epx.2_Silent_p.V157V|ZNF83_uc010epy.2_Silent_p.V157V|ZNF83_uc010epz.2_Silent_p.V157V|ZNF83_uc010eqb.1_Silent_p.V157V NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 157 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TATTATGGAAGACCTTGCCAC 0.353 NA 16 25 0 0 0 0 LILRA4 23547 broad.mit.edu 37 19 54850163 54850163 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:54850163A>G uc002qfj.2 - 2 101 c.44T>C c.(43-45)CTG>CCG p.L15P LILRA4_uc002qfi.2_5'UTR NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 15 integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCTGGGGCCCAGGCTCAGCCC 0.622 NA OREG0003656 type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 25 22 0 0 0 0 MYT1L 23040 broad.mit.edu 37 2 1843127 1843127 + Silent SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:1843127C>A uc002qxe.2 - 21 3701 c.2874G>T c.(2872-2874)GGG>GGT p.G958G MYT1L_uc002qxd.2_Silent_p.G956G|MYT1L_uc010ewk.2_5'UTR NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 958 C2HC-type 5. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGCCGTCGCACCCGGGGACCG 0.617 NA 33 59 2.76e-19 3.25e-19 1 0 AGBL5 60509 broad.mit.edu 37 2 27276859 27276859 + Nonsense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:27276859C>A uc002rie.2 + 4 700 c.483C>A c.(481-483)TAC>TAA p.Y161* AGBL5_uc002ric.2_Nonsense_Mutation_p.Y161*|AGBL5_uc002rid.2_Nonsense_Mutation_p.Y161*|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 161 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTTCTCCTACAGTGACTGCC 0.552 NA 75 129 4.27e-19 5.02e-19 1 0 APLF 200558 broad.mit.edu 37 2 68772422 68772422 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:68772422C>G uc002sep.2 + 8 1437 c.1264C>G c.(1264-1266)CCC>GCC p.P422A APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Missense_Mutation_p.P398A|APLF_uc002ser.1_Missense_Mutation_p.P153A NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 422 PBZ-type 2. double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 GCCTGAATGTCCCTATGGACC 0.423 NA 29 67 0 0 0 0 FER1L5 90342 broad.mit.edu 37 2 97361486 97361486 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:97361486C>T uc010fia.2 + 35 3983 c.3983C>T c.(3982-3984)CCG>CTG p.P1328L FER1L5_uc002sws.3_Missense_Mutation_p.P46L|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_Missense_Mutation_p.P46L|FER1L5_uc010yus.1_Missense_Mutation_p.P45L NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1328 integral to membrane ovary(1) 1 CAGCTCATGCCGACGGAGGAG 0.642 NA 10 18 0 0 0 0 SAP130 79595 broad.mit.edu 37 2 128775458 128775458 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:128775458G>A uc002tpp.2 - 3 354 c.222C>T c.(220-222)GTC>GTT p.V74V SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Silent_p.V74V|SAP130_uc002tpq.1_Silent_p.V48V NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 74 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CCCTGGCACTGACTTCAGAAT 0.498 NA 29 62 0 0 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555887 155555887 + Silent SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:155555887G>T uc002tyv.1 + 1 795 c.600G>T c.(598-600)GCG>GCT p.A200A KCNJ3_uc010zce.1_Silent_p.A200A NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 200 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) GCGAGCACGCGGTGATCTCCA 0.597 NA 4 33 0.00909568 0.00949835 1 0 TTN 7273 broad.mit.edu 37 2 179484368 179484368 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:179484368C>G uc010zfg.1 - 199 39196 c.38972G>C c.(38971-38973)AGA>ACA p.R12991T TTN_uc010zfh.1_Missense_Mutation_p.R6686T|TTN_uc010zfi.1_Missense_Mutation_p.R6619T|TTN_uc010zfj.1_Missense_Mutation_p.R6494T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13918 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGCTTAGCTCTGGCTTCTTT 0.373 NA 35 57 0 0 0 0 SLC39A10 57181 broad.mit.edu 37 2 196592977 196592977 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:196592977C>T uc002utg.3 + 9 2455 c.2241C>T c.(2239-2241)CTC>CTT p.L747L SLC39A10_uc002uth.3_Silent_p.L747L|SLC39A10_uc010zgp.1_Silent_p.L297L NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 747 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) TAGGCATGCTCATAGGCACAG 0.443 NA 8 192 0 0 0 0 ARPC2 10109 broad.mit.edu 37 2 219110167 219110167 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:219110167A>T uc002vhd.2 + 8 686 c.574A>T c.(574-576)AGC>TGC p.S192C ARPC2_uc002vhe.2_Missense_Mutation_p.S192C|ARPC2_uc002vhf.2_Missense_Mutation_p.S78C NM_152862 NP_690601 O15144 ARPC2_HUMAN actin related protein 2/3 complex subunit 2 192 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton ovary(1) 1 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) ACGCAGAGCCAGCCACACAGC 0.512 NA 6 152 0 0 0 0 RNF24 11237 broad.mit.edu 37 20 3914726 3914726 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr20:3914726G>A uc002wkh.2 - 6 701 c.431C>T c.(430-432)GCA>GTA p.A144V RNF24_uc002wki.2_Missense_Mutation_p.A165V|RNF24_uc002wkj.2_Missense_Mutation_p.A144V NM_007219 NP_009150 Q9Y225 RNF24_HUMAN ring finger protein 24 isoform 1 144 Golgi membrane|integral to membrane zinc ion binding 0 AATGTTCTCTGCCCCAGGAAG 0.562 NA 67 102 0 0 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349395 58349395 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr20:58349395G>C uc002yau.2 + 7 1491 c.1024G>C c.(1024-1026)GCT>CCT p.A342P PHACTR3_uc002yat.2_Missense_Mutation_p.A339P|PHACTR3_uc010zzw.1_Missense_Mutation_p.A301P|PHACTR3_uc002yav.2_Missense_Mutation_p.A301P|PHACTR3_uc002yaw.2_Missense_Mutation_p.A301P|PHACTR3_uc002yax.2_Missense_Mutation_p.A231P NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 342 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GAGGGAGGAGGCTTGGAGCTT 0.512 NA 35 48 0 0 0 0 TCFL5 10732 broad.mit.edu 37 20 61488812 61488812 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr20:61488812C>T uc002ydp.2 - 4 1266 c.1173G>A c.(1171-1173)CAG>CAA p.Q391Q TCFL5_uc002ydo.2_Silent_p.Q164Q|TCFL5_uc002ydq.2_Silent_p.Q390Q NM_006602 NP_006593 Q9UL49 TCFL5_HUMAN transcription factor-like 5 protein 391 cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1) 1 Breast(26;5.68e-08) GGGGCCCACTCTGGGCCTGCT 0.572 NA 166 49 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 41684252 41684252 + Silent SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr21:41684252T>C uc002yyq.1 - 9 2270 c.1818A>G c.(1816-1818)AGA>AGG p.R606R DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 606 Extracellular (Potential).|Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAATGGAGAATCTTGGAAACT 0.478 NA 16 29 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26242142 26242142 + Silent SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr22:26242142C>G uc003abz.1 + 19 3694 c.3444C>G c.(3442-3444)GGC>GGG p.G1148G MYO18B_uc003aca.1_Silent_p.G1029G|MYO18B_uc010guy.1_Silent_p.G1030G|MYO18B_uc010guz.1_Silent_p.G1029G|MYO18B_uc011aka.1_Silent_p.G302G|MYO18B_uc011akb.1_Silent_p.G661G NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1148 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GCCTGGAGGGCACCTCCCAGC 0.667 NA 10 23 0 0 0 0 ADM2 79924 broad.mit.edu 37 22 50921172 50921172 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr22:50921172C>T uc003blj.2 + 2 552 c.287C>T c.(286-288)TCG>TTG p.S96L ADM2_uc011ary.1_Missense_Mutation_p.S96L NM_024866 NP_079142 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 precursor 96 positive regulation of angiogenesis extracellular region hormone activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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) CGAAGACACTCGGGCCCCCGC 0.697 NA 18 11 0 0 0 0 CLDND1 56650 broad.mit.edu 37 3 98240121 98240121 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:98240121T>A uc003dsp.2 - 2 1028 c.148A>T c.(148-150)ATC>TTC p.I50F CLDND1_uc003dso.2_Missense_Mutation_p.I50F|CLDND1_uc003dsq.2_Missense_Mutation_p.I50F|CLDND1_uc003dss.2_Missense_Mutation_p.I50F|CLDND1_uc003dsr.2_Intron|CLDND1_uc003dst.2_Missense_Mutation_p.I73F|CLDND1_uc003dsu.2_Missense_Mutation_p.I50F|CLDND1_uc003dsv.2_Missense_Mutation_p.I50F NM_019895 NP_063948 Q9NY35 CLDN1_HUMAN claudin domain containing 1 protein isoform a 50 integral to membrane ovary(1) 1 TCATCCCAGATGCTTTTATTC 0.413 NA 39 67 0 0 0 0 MORC1 27136 broad.mit.edu 37 3 108773582 108773582 + Silent SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:108773582G>T uc003dxl.2 - 14 1410 c.1323C>A c.(1321-1323)ACC>ACA p.T441T MORC1_uc011bhn.1_Silent_p.T441T NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 441 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CACTGATGCCGGTGTCCTTAC 0.373 NA 62 99 2.04e-46 2.45e-46 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125856801 125856801 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:125856801A>T uc003eim.1 - 10 1269 c.1079T>A c.(1078-1080)CTG>CAG p.L360Q ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.L259Q|ALDH1L1_uc003eio.2_Missense_Mutation_p.L62Q|ALDH1L1_uc010hsf.1_Missense_Mutation_p.L386Q NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 360 Acyl carrier. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TTCCTCCACCAGCCTGGAGGA 0.567 NA 45 42 0 0 0 0 SI 6476 broad.mit.edu 37 3 164739124 164739124 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:164739124G>T uc003fei.2 - 27 3209 c.3147C>A c.(3145-3147)AAC>AAA p.N1049K NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1049 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGGTTGGAATGTTTAACGGTA 0.368 NA HNSCC(35;0.089) 360 225 1.92e-182 2.32e-182 1 0 SERPINI1 5274 broad.mit.edu 37 3 167525052 167525052 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:167525052T>A uc003ffa.3 + 6 1100 c.902T>A c.(901-903)ATT>AAT p.I301N SERPINI1_uc003ffb.3_Missense_Mutation_p.I301N NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 301 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 GAACAGGAAATTGATTTAAAA 0.338 NA 67 235 0 0 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540249 169540249 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:169540249C>T uc003fgb.2 + 1 540 c.540C>T c.(538-540)TTC>TTT p.F180F NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 180 LRR 7. 0 TTGAAGTTTTCCCCCAGGAGC 0.517 NA 29 262 0 0 0 0 SKIL 6498 broad.mit.edu 37 3 170102443 170102443 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:170102443A>G uc003fgu.2 + 4 2031 c.1319A>G c.(1318-1320)AAG>AGG p.K440R SKIL_uc011bps.1_Missense_Mutation_p.K420R|SKIL_uc003fgv.2_Intron|SKIL_uc003fgw.2_Missense_Mutation_p.K440R NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 440 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CAGTCAGAGAAGGCTCACAGT 0.398 NA 77 401 0 0 0 0 PEX5L 51555 broad.mit.edu 37 3 179592166 179592166 + Missense_Mutation SNP G G C rs139208096 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:179592166G>C uc003fki.1 - 7 805 c.675C>G c.(673-675)AGC>AGG p.S225R PEX5L_uc011bqd.1_Missense_Mutation_p.S182R|PEX5L_uc011bqe.1_Missense_Mutation_p.S33R|PEX5L_uc011bqf.1_Missense_Mutation_p.S117R|PEX5L_uc003fkj.1_Missense_Mutation_p.S190R|PEX5L_uc010hxd.1_Missense_Mutation_p.S223R|PEX5L_uc011bqg.1_Missense_Mutation_p.S201R|PEX5L_uc011bqh.1_Missense_Mutation_p.S166R NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 225 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) AGTTGAGGGCGCTTTTTCCAC 0.393 NA 75 202 0 0 0 0 IQCG 84223 broad.mit.edu 37 3 197619560 197619560 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:197619560A>G uc003fyo.2 - 9 1180 c.1034T>C c.(1033-1035)CTA>CCA p.L345P IQCG_uc003fyn.2_Missense_Mutation_p.L247P|IQCG_uc003fyp.2_Missense_Mutation_p.L345P|IQCG_uc003fym.2_Missense_Mutation_p.L46P NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 345 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GAGAGCATTTAGTTCATTCTG 0.438 NA 91 631 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114277023 114277023 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr4:114277023G>A uc003ibe.3 + 38 7349 c.7249G>A c.(7249-7251)GAT>AAT p.D2417N ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.D2432N NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2384 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCCTAGCCGAGATAGCGAAGT 0.498 NA 18 24 0 0 0 0 TIGD4 201798 broad.mit.edu 37 4 153691671 153691671 + Nonsense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr4:153691671C>T uc003imy.2 - 2 1268 c.486G>A c.(484-486)TGG>TGA p.W162* NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 162 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) CATTTTGGTACCAGACAGTCG 0.363 NA 24 21 0 0 0 0 TKTL2 84076 broad.mit.edu 37 4 164393621 164393621 + Silent SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr4:164393621C>G uc003iqp.3 - 1 1427 c.1266G>C c.(1264-1266)GGG>GGC p.G422G NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 422 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGTGGATACCCCACAGTGGG 0.478 NA 26 21 0 0 0 0 SEMA5A 9037 broad.mit.edu 37 5 9202097 9202097 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:9202097T>C uc003jek.2 - 9 1614 c.902A>G c.(901-903)GAT>GGT p.D301G NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 301 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 ATAGATCAAATCCAGCTCAGG 0.438 NA 28 49 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13876803 13876803 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:13876803G>T uc003jfd.2 - 22 3428 c.3386C>A c.(3385-3387)TCC>TAC p.S1129Y NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1129 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTTTTTGGTGGAGTTGATAAT 0.383 NA Kartagener_syndrome 20 67 2.52e-20 3e-20 1 0 PDZD2 23037 broad.mit.edu 37 5 32088330 32088330 + Silent SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:32088330G>T uc003jhl.2 + 20 5164 c.4776G>T c.(4774-4776)TCG>TCT p.S1592S PDZD2_uc003jhm.2_Silent_p.S1592S NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1592 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AAGATCCTTCGGAGTCAGAAG 0.577 NA 60 97 2.67e-34 3.21e-34 1 0 MAP3K1 4214 broad.mit.edu 37 5 56167806 56167806 + Silent SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:56167806A>T uc003jqw.3 + 7 1872 c.1371A>T c.(1369-1371)ACA>ACT p.T457T NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 457 RING-type. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AAAGTCTTACAGTGTGTGAAG 0.428 NA 27 30 0 0 0 0 PAPD4 167153 broad.mit.edu 37 5 78936938 78936938 + Silent SNP T T C rs142919591 byFrequency TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:78936938T>C uc010jae.1 + 7 1009 c.591T>C c.(589-591)CTT>CTC p.L197L PAPD4_uc003kgb.2_Silent_p.L197L|PAPD4_uc010jaf.1_Silent_p.L197L|PAPD4_uc003kga.2_Silent_p.L197L|PAPD4_uc003kfz.2_Silent_p.L197L NM_001114393 NP_001107865 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 197 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity ovary(1) 1 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) AAAGCAGACTTTTTTTGGTTG 0.318 NA 8 129 0 0 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475050 140475051 + Missense_Mutation DNP GG GG TA TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:140475050_140475051GG>TA uc003lil.2 + 1 814_815 c.676_677GG>TA c.(676-678)GGC>TAC p.G226Y PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 226 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCAGGTCCGGCACGGCCCTG 0.579 NA 17 34 0 0 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735600 140735600 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:140735600C>A uc003ljq.1 + 1 833 c.833C>A c.(832-834)ACG>AAG p.T278K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.T278K NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 278 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGACGTGACGTATTCTTTC 0.458 NA 11 25 1.59e-06 1.75e-06 1 0 FAF2 23197 broad.mit.edu 37 5 175913467 175913467 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:175913467G>A uc003mej.3 + 3 297 c.244G>A c.(244-246)GTT>ATT p.V82I NM_014613 NP_055428 Q96CS3 FAF2_HUMAN UBX domain containing 8 82 response to unfolded protein endoplasmic reticulum|lipid particle protein binding ovary(1) 1 CTACAGCTATGTTGTCTCAAG 0.443 NA 42 65 0 0 0 0 RREB1 6239 broad.mit.edu 37 6 7231221 7231221 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr6:7231221G>A uc003mxc.2 + 10 3279 c.2889G>A c.(2887-2889)GCG>GCA p.A963A RREB1_uc003mxb.2_Silent_p.A963A|RREB1_uc010jnx.2_Silent_p.A963A NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 963 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGGAGGAGGCGGGGAGCAGCG 0.632 NA 17 12 0 0 0 0 SASH1 23328 broad.mit.edu 37 6 148840966 148840966 + Silent SNP G G A rs138202713 byFrequency TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr6:148840966G>A uc003qme.1 + 10 1621 c.1146G>A c.(1144-1146)CAG>CAA p.Q382Q SASH1_uc011eeb.1_Silent_p.Q143Q NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 382 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) AAAAGGCCCAGAAAGTGTCCC 0.547 NA 4 21 0 0 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151293189 151293189 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr6:151293189T>A uc003qob.2 + 20 2388 c.2120T>A c.(2119-2121)TTT>TAT p.F707Y MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.F708Y|MTHFD1L_uc003qoc.2_Missense_Mutation_p.F655Y NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 707 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GAAGAAGGATTTGTAGGTAAG 0.398 NA 28 56 0 0 0 0 TIAM2 26230 broad.mit.edu 37 6 155451295 155451295 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr6:155451295C>T uc003qqb.2 + 6 2211 c.938C>T c.(937-939)CCC>CTC p.P313L TIAM2_uc003qqe.2_Missense_Mutation_p.P313L NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 313 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCCTCTCCCCCTCAGGTATC 0.557 NA 27 51 0 0 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962841 88962841 + Missense_Mutation SNP G G A rs139327261 byFrequency TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr7:88962841G>A uc011khi.1 + 4 1083 c.545G>A c.(544-546)CGG>CAG p.R182Q NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 182 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GATAAACAGCGGTCCACCATG 0.418 NA HNSCC(36;0.09) 33 69 0 0 0 0 SLC7A2 6542 broad.mit.edu 37 8 17407860 17407860 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:17407860T>C uc011kyc.1 + 5 918 c.749T>C c.(748-750)ATG>ACG p.M250T SLC7A2_uc011kyd.1_Missense_Mutation_p.M290T|SLC7A2_uc011kye.1_Missense_Mutation_p.M290T|SLC7A2_uc011kyf.1_Missense_Mutation_p.M250T NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 250 Helical; (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GGTGGCTTTATGCCTTATGGC 0.448 NA 35 18 0 0 0 0 KCNU1 157855 broad.mit.edu 37 8 36766941 36766941 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:36766941C>G uc010lvw.2 + 21 2306 c.2219C>G c.(2218-2220)GCC>GGC p.A740G KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 740 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCCTTGAGAGCCAGCAACTAT 0.458 NA 93 230 0 0 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667725 70667725 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:70667725T>C uc003xyl.2 - 4 1899 c.1192A>G c.(1192-1194)AAA>GAA p.K398E SLCO5A1_uc010lzb.2_Missense_Mutation_p.K398E|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.K398E|SLCO5A1_uc010lzc.2_Missense_Mutation_p.K398E NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 398 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TTGTTTGATTTCTCCTTCAGA 0.358 NA 31 40 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121228628 121228628 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:121228628G>A uc003yox.2 + 14 1901 c.1636G>A c.(1636-1638)GTT>ATT p.V546I COL14A1_uc003yoy.2_Missense_Mutation_p.V224I|COL14A1_uc010mde.1_Missense_Mutation_p.V224I NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 546 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AATCTCCAATGTTGGCTCTAA 0.353 NA 49 65 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139277978 139277978 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:139277978A>G uc003yuy.2 - 4 436 c.265T>C c.(265-267)TTC>CTC p.F89L FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 89 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGAACTCGGAAGACCACAGCA 0.488 NA HNSCC(54;0.14) 29 50 0 0 0 0 JRK 8629 broad.mit.edu 37 8 143745934 143745934 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:143745934C>A uc003ywo.2 - 3 2056 c.1542G>T c.(1540-1542)CAG>CAT p.Q514H JRK_uc003ywp.2_Missense_Mutation_p.Q514H|JRK_uc010mew.1_Missense_Mutation_p.S515I NM_001077527 NP_001070995 jerky isoform b 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) GCGCCCgcagctgccccactt 0.343 NA 4 15 0.00909568 0.00949835 1 0 GLIS3 169792 broad.mit.edu 37 9 4117821 4117821 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:4117821T>C uc003zhw.1 - 3 1386 c.1192A>G c.(1192-1194)AAA>GAA p.K398E GLIS3_uc003zhx.1_Missense_Mutation_p.K553E|GLIS3_uc003zic.1_Missense_Mutation_p.K553E|GLIS3_uc003zie.1_Missense_Mutation_p.K553E|GLIS3_uc010mhh.1_Missense_Mutation_p.K428E|GLIS3_uc003zid.1_Missense_Mutation_p.K331E|GLIS3_uc010mhi.1_Missense_Mutation_p.K360E|GLIS3_uc003zif.1_Missense_Mutation_p.K331E|GLIS3_uc003zig.1_Missense_Mutation_p.K397E|GLIS3_uc003zih.1_Missense_Mutation_p.K331E|GLIS3_uc003zhy.1_Missense_Mutation_p.K331E|GLIS3_uc003zhz.1_Missense_Mutation_p.K331E|GLIS3_uc003zib.1_Missense_Mutation_p.K397E|GLIS3_uc010mhg.1_Missense_Mutation_p.K331E NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 398 C2H2-type 2; atypical. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) ATCAGCAGTTTATAGCGGGCG 0.567 NA 69 48 0 0 0 0 ZNF484 83744 broad.mit.edu 37 9 95610231 95610231 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:95610231C>T uc004asu.1 - 5 987 c.838G>A c.(838-840)GAA>AAA p.E280K ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.E282K|ZNF484_uc010mrb.1_Missense_Mutation_p.E244K|ZNF484_uc004asv.1_Missense_Mutation_p.E244K NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 280 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCATGGCATTCATGCTGCTTT 0.428 NA 34 102 0 0 0 0 KIAA0368 23392 broad.mit.edu 37 9 114173351 114173351 + Missense_Mutation SNP T T G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:114173351T>G uc004bfe.1 - 23 2820 c.2820A>C c.(2818-2820)AAA>AAC p.K940N NM_001080398 NP_001073867 KIAA0368 protein 0 ACATTCTCATTTTCTTTTTAG 0.418 NA 188 190 0 0 0 0 PAPPA 5069 broad.mit.edu 37 9 119065052 119065052 + Nonsense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:119065052C>A uc004bjn.2 + 10 3351 c.2970C>A c.(2968-2970)TGC>TGA p.C990* PAPPA_uc011lxp.1_Nonsense_Mutation_p.C685*|PAPPA_uc011lxq.1_Nonsense_Mutation_p.C365* NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 990 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CCAGCCGGTGCTATTTCCATG 0.458 NA 17 74 0.00278032 0.00294949 1 0 OLFML2A 169611 broad.mit.edu 37 9 127557384 127557384 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:127557384G>A uc004bov.2 + 3 549 c.436G>A c.(436-438)GCC>ACC p.A146T OLFML2A_uc010mwr.1_Intron NM_182487 NP_872293 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A precursor 146 0 CCACAAGGTGGCCTCCCAGAT 0.652 NA 5 12 0 0 0 0 OLFML2A 169611 broad.mit.edu 37 9 127566456 127566456 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:127566456G>A uc004bov.2 + 6 1116 c.1003G>A c.(1003-1005)GCA>ACA p.A335T OLFML2A_uc010mwr.1_Missense_Mutation_p.A299T|OLFML2A_uc004bow.2_Missense_Mutation_p.A121T NM_182487 NP_872293 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A precursor 335 0 GCCCAACTCCGCAGAGCAGGA 0.562 NA 64 43 0 0 0 0 SCAI 286205 broad.mit.edu 37 9 127715225 127715225 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:127715225C>T uc004bpe.2 - 18 1763 c.1682G>A c.(1681-1683)CGA>CAA p.R561Q SCAI_uc004bpd.2_Missense_Mutation_p.R584Q|SCAI_uc010mwu.2_RNA NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 561 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 TGGATAATTTCGTGTTTCCTG 0.358 NA 64 45 0 0 0 0 MRPS2 51116 broad.mit.edu 37 9 138395504 138395504 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:138395504A>T uc004cfv.3 + 4 490 c.416A>T c.(415-417)AAG>ATG p.K139M MRPS2_uc004cfw.3_Missense_Mutation_p.K49M|MRPS2_uc004cfx.3_Missense_Mutation_p.K54M|MRPS2_uc010nat.2_Missense_Mutation_p.K120M|uc004cfy.2_RNA NM_016034 NP_057118 Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 139 translation mitochondrion|small ribosomal subunit structural constituent of ribosome 0 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) GCCTACCGCAAGGGCATCATC 0.577 NA 30 70 0 0 0 0 NOXA1 10811 broad.mit.edu 37 9 140327704 140327704 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:140327704G>T uc004cmv.2 + 10 1033 c.898G>T c.(898-900)GCG>TCG p.A300S C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Missense_Mutation_p.A300S|NOXA1_uc010nch.2_Missense_Mutation_p.A244S NM_006647 NP_006638 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 300 Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) TGAGGACCCCGCGGGTGCTGG 0.652 NA 8 11 0.00829132 0.00870371 1 0 CNKSR2 22866 broad.mit.edu 37 X 21515965 21515965 + Splice_Site SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chrX:21515965G>A uc004czx.1 + 7 777 c.741_splice c.e7+1 p.N247_splice CNKSR2_uc004czw.2_Splice_Site_p.N247_splice|CNKSR2_uc011mjn.1_Splice_Site_p.N247_splice|CNKSR2_uc011mjo.1_Splice_Site_p.N247_splice NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 CACAGAAAATGTAAGTATTCT 0.308 NA 22 10 0 0 0 0 NXF3 56000 broad.mit.edu 37 X 102337236 102337236 + Missense_Mutation SNP A A C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chrX:102337236A>C uc004eju.2 - 9 908 c.837T>G c.(835-837)TGT>TGG p.C279W NXF3_uc010noi.1_Missense_Mutation_p.C129W|NXF3_uc011mrw.1_Missense_Mutation_p.C279W|NXF3_uc011mrx.1_Missense_Mutation_p.C190W NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 279 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 TTCTGTCCGCACACTTCTCTC 0.532 NA 11 129 0 0 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:5529918_5529920delTGG uc001may.1 - 2 955_957 c.869_871delCCA c.(868-873)ACCAGC>AGC p.T290del HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 290 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 NA 7 103 --- --- --- --- NA NA NA NA CEP290 80184 broad.mit.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T rs77980773 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:88512304_88512305insT uc001tar.2 - 17 2010_2011 c.1666_1667insA c.(1666-1668)ATTfs p.I556fs CEP290_uc001tat.2_Frame_Shift_Ins_p.I318fs|CEP290_uc009zsl.1_RNA NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 556 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 CATTTGACGAATTTTTTTTTTC 0.312 NA 3 6 --- --- --- --- NA NA NA NA CALB2 794 broad.mit.edu 37 16 71423757 71423757 + Frame_Shift_Del DEL C C - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:71423757delC uc002faa.3 + 11 875 c.805delC c.(805-807)CCCfs p.P269fs CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_3'UTR NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 269 EF-hand 6. calcium ion binding 0 Ovarian(137;0.125) CTGCAGCGAGCCCCCCATGTA 0.587 NA 54 113 --- --- --- --- NA NA NA NA ZNF791 163049 broad.mit.edu 37 19 12735473 12735473 + Frame_Shift_Del DEL G G - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:12735473delG uc002mua.2 + 3 302 c.140delG c.(139-141)TGGfs p.W47fs ZNF791_uc010xml.1_Frame_Shift_Del_p.W15fs|ZNF791_uc010dyu.1_Intron|ZNF791_uc010xmm.1_Translation_Start_Site NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GGGGAAAAATGGGAAGACCCG 0.313 NA 9 23 --- --- --- --- NA NA NA NA C19orf2 8725 broad.mit.edu 37 19 30433493 30433494 + Frame_Shift_Ins INS - - C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:30433493_30433494insC uc002nsr.2 + 1 69_70 c.39_40insC c.(37-42)TCGCCCfs p.S13fs C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_5'UTR NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 13_14 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) CCGACCCCTCGCCCCCTTCGGC 0.762 NA 2 4 --- --- --- --- NA NA NA NA LTBP1 4052 broad.mit.edu 37 2 33614263 33614282 + Frame_Shift_Del DEL AGCTGTGTAACATCCCCGTG AGCTGTGTAACATCCCCGTG - rs146752637 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG uc002ros.2 + 32 4727_4746 c.4727_4746delAGCTGTGTAACATCCCCGTG c.(4726-4746)CAGCTGTGTAACATCCCCGTGfs p.Q1576fs LTBP1_uc002rot.2_Frame_Shift_Del_p.Q1250fs|LTBP1_uc002rou.2_Frame_Shift_Del_p.Q1249fs|LTBP1_uc002rov.2_Frame_Shift_Del_p.Q1196fs|LTBP1_uc010ymz.1_Frame_Shift_Del_p.Q1207fs|LTBP1_uc010yna.1_Frame_Shift_Del_p.Q1154fs|LTBP1_uc010ynb.1_Frame_Shift_Del_p.Q473fs NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1575_1581 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GACTATGCTCAGCTGTGTAACATCCCCGTGACGGGACGCC 0.564 NA 18 112 --- --- --- --- NA NA NA NA UGT2B7 7364 broad.mit.edu 37 4 69962284 69962290 + Frame_Shift_Del DEL TTTTGCT TTTTGCT - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr4:69962284_69962290delTTTTGCT uc003heg.3 + 1 92_98 c.46_52delTTTTGCT c.(46-54)TTTTGCTTTfs p.F16fs UGT2B7_uc010ihq.2_Frame_Shift_Del_p.F16fs NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 16_18 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 ACAACTGAGCTTTTGCTTTAGCTCTGG 0.42 NA 75 158 --- --- --- --- NA NA NA NA