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 TNFRSF9 3604 broad.mit.edu 37 1 7980916 7980916 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:7980916T>G uc001aot.2 - 8 875 c.747A>C c.(745-747)GAA>GAC p.E249D NM_001561 NP_001552 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, 249 Cytoplasmic (Potential).|Interaction with LRR-1. induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) ATCCTCCTTCTTCTTCTTCTG 0.378 SDHB 6390 broad.mit.edu 37 1 17349180 17349180 + Missense_Mutation SNP G G A rs138996609 by1000genomes TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:17349180G>A uc001bae.2 - 7 839 c.688C>T c.(688-690)CGC>TGC p.R230C NM_003000 NP_002991 P21912 DHSB_HUMAN succinate dehydrogenase complex, subunit B, iron 230 R -> C (in pheochromocytoma). respiratory electron transport chain|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II 2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) Succinic acid(DB00139) TTGGCCAGGCGCTCCTCTGTG 0.562 Mis|N|F paraganglioma|pheochromocytoma Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome GRIK3 2899 broad.mit.edu 37 1 37356689 37356689 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:37356689A>C uc001caz.2 - 2 259 c.124T>G c.(124-126)TTC>GTC p.F42V GRIK3_uc001cba.1_Missense_Mutation_p.F42V NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 42 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GCATACTCGAAGATTCCTCCT 0.502 MTF1 4520 broad.mit.edu 37 1 38323055 38323055 + Silent SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:38323055A>C uc001cce.1 - 2 417 c.276T>G c.(274-276)GGT>GGG p.G92G MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 92 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCTGCACATAACCCTGGGACA 0.473 DHCR24 1718 broad.mit.edu 37 1 55337221 55337221 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:55337221G>A uc001cyc.1 - 5 807 c.678C>T c.(676-678)GCC>GCT p.A226A DHCR24_uc010ooj.1_Silent_p.A88A|DHCR24_uc010ook.1_Silent_p.A185A NM_014762 NP_055577 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase precursor 226 FAD-binding PCMH-type. anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding pancreas(1) 1 GGATCTCAGCGGCCACCAGGA 0.567 C8B 732 broad.mit.edu 37 1 57420479 57420479 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:57420479A>C uc001cyp.2 - 4 480 c.413T>G c.(412-414)CTT>CGT p.L138R C8B_uc010oon.1_Missense_Mutation_p.L76R|C8B_uc010ooo.1_Missense_Mutation_p.L86R NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 138 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 ATTGCAAAGAAGTCTGCGGTT 0.423 C8B 732 broad.mit.edu 37 1 57425760 57425760 + Missense_Mutation SNP A A T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:57425760A>T uc001cyp.2 - 2 249 c.182T>A c.(181-183)ATG>AAG p.M61K C8B_uc010oon.1_5'UTR|C8B_uc010ooo.1_Missense_Mutation_p.M9K NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 61 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 ATCAATGGGCATCAGGGTAAC 0.488 C1orf173 127254 broad.mit.edu 37 1 75037488 75037488 + Nonsense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:75037488G>T uc001dgg.2 - 14 4125 c.3906C>A c.(3904-3906)TGC>TGA p.C1302* NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1302 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCTCCAGAGTGCACTCTTTGT 0.542 HFM1 164045 broad.mit.edu 37 1 91859732 91859732 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:91859732G>T uc001doa.3 - 4 512 c.412C>A c.(412-414)CCT>ACT p.P138T HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.P138T NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 138 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CTCTTCTCAGGTGCTATCTCA 0.333 OR6N1 128372 broad.mit.edu 37 1 158736261 158736261 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:158736261A>C uc010piq.1 - 1 212 c.212T>G c.(211-213)CTT>CGT p.L71R NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGTATAGCCAAGCTCTGAGAA 0.488 ATP1A2 477 broad.mit.edu 37 1 160097392 160097392 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:160097392C>T uc001fvc.2 + 8 931 c.799C>T c.(799-801)CGC>TGC p.R267C ATP1A2_uc001fvb.2_Missense_Mutation_p.R267C|ATP1A2_uc010piz.1_Missense_Mutation_p.R112C|ATP1A2_uc001fvd.2_Missense_Mutation_p.R3C|ATP1A2_uc009wtg.1_5'Flank NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 267 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGTGATGGGCCGCATAGCTAC 0.592 C1orf111 284680 broad.mit.edu 37 1 162344042 162344042 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:162344042G>A uc001gbx.2 - 3 646 c.582C>T c.(580-582)ACC>ACT p.T194T NM_182581 NP_872387 Q5T0L3 CA111_HUMAN hypothetical protein LOC284680 194 ovary(1) 1 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) GGAAGTCCAGGGTGGGGTACA 0.582 FMO2 2327 broad.mit.edu 37 1 171154909 171154909 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:171154909G>A uc001ghk.1 + 2 174 c.57G>A c.(55-57)AAG>AAA p.K19K FMO2_uc010pmd.1_Intron NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 19 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTCTCTGAAGTGCTGTGTGG 0.463 FAM5B 57795 broad.mit.edu 37 1 177245501 177245501 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:177245501G>A uc001glf.2 + 6 1255 c.943G>A c.(943-945)GCC>ACC p.A315T FAM5B_uc010pna.1_Missense_Mutation_p.A65T|FAM5B_uc001glg.2_Missense_Mutation_p.A210T NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 315 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TGACATCCAGGCCATGGAGGA 0.572 CFH 3075 broad.mit.edu 37 1 196716376 196716376 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:196716376G>A uc001gtj.3 + 22 3869 c.3629G>A c.(3628-3630)CGT>CAT p.R1210H NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1210 Sushi 20. R -> C (in CFH deficiency). complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CTTTCATCACGTTCTCACACA 0.388 OR2L13 284521 broad.mit.edu 37 1 248263095 248263095 + Missense_Mutation SNP T T A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:248263095T>A uc001ids.2 + 3 755 c.418T>A c.(418-420)TGT>AGT p.C140S NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TAAAATGATGTGTGTGAAGAT 0.498 OR2T12 127064 broad.mit.edu 37 1 248457972 248457972 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:248457972C>T uc010pzj.1 - 1 909 c.909G>A c.(907-909)CTG>CTA p.L303L NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 303 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) CACACGTCCCCAGCCACCGTT 0.438 CAMK2G 818 broad.mit.edu 37 10 75612948 75612948 + Splice_Site SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr10:75612948A>G uc001jvv.1 - 4 375 c.251_splice c.e4+1 p.L84_splice CAMK2G_uc001jvm.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvo.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvq.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvr.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvp.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvs.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvt.1_Intron|CAMK2G_uc001jvu.1_Splice_Site_p.L92_splice|CAMK2G_uc010qkv.1_Intron NM_172171 NP_751911 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity lung(1)|stomach(1) 2 Prostate(51;0.0112) AGTGGCACTTACAGGTCAAAC 0.522 HIF1AN 55662 broad.mit.edu 37 10 102304792 102304792 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr10:102304792C>T uc001krj.3 + 4 737 c.662C>T c.(661-663)CCG>CTG p.P221L NM_017902 NP_060372 Q9NWT6 HIF1N_HUMAN hypoxia-inducible factor 1, alpha subunit 221 JmjC.|Interaction with HIF1A.|Interaction with VHL. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding 0 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) TTATTCCCTCCGGATCAGTTC 0.463 LZTS2 84445 broad.mit.edu 37 10 102762419 102762419 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr10:102762419C>T uc001ksj.2 + 2 193 c.124C>T c.(124-126)CCA>TCA p.P42S LZTS2_uc010qpw.1_Missense_Mutation_p.P42S|LZTS2_uc001ksk.2_Missense_Mutation_p.P42S|LZTS2_uc001ksl.2_Missense_Mutation_p.P42S|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 42 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) TCCCGGGGGGCCAGCTCCTCC 0.682 SMC3 9126 broad.mit.edu 37 10 112341745 112341745 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr10:112341745G>T uc001kze.2 + 9 738 c.612G>T c.(610-612)GAG>GAT p.E204D NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 204 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) ATACTCTAGAGGAAGAAAAGG 0.388 OR51I1 390063 broad.mit.edu 37 11 5461820 5461820 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr11:5461820A>C uc010qze.1 - 1 925 c.925T>G c.(925-927)TTC>GTC p.F309V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATTTATGGAAGAACTTGAGA 0.453 APBB1 322 broad.mit.edu 37 11 6416887 6416887 + Silent SNP G G C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr11:6416887G>C uc001mdb.1 - 14 2110 c.2010C>G c.(2008-2010)ACC>ACG p.T670T APBB1_uc001mcz.1_Silent_p.T289T|APBB1_uc001mdd.3_Silent_p.T448T|APBB1_uc001mda.2_Silent_p.T195T|APBB1_uc001mdc.1_Silent_p.T668T|APBB1_uc001mcy.1_Missense_Mutation_p.P108R NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 670 PID 2. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GGAGGCAGGAGGTGGAGGCCT 0.662 HPX 3263 broad.mit.edu 37 11 6452560 6452560 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr11:6452560C>T uc001mdg.2 - 10 1331 c.1270G>A c.(1270-1272)GGC>AGC p.G424S HPX_uc001mdf.2_Missense_Mutation_p.G170S|HPX_uc009yfc.2_RNA NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 424 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) AGGTACAAGCCGGGACCATTG 0.537 SLC17A6 57084 broad.mit.edu 37 11 22360124 22360124 + Silent SNP G G C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr11:22360124G>C uc001mqk.2 + 1 458 c.45G>C c.(43-45)GGG>GGC p.G15G NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 15 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 GAAAAGAGGGGCTAAAGAATT 0.443 OR5D18 219438 broad.mit.edu 37 11 55587672 55587672 + Silent SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr11:55587672T>G uc010rin.1 + 1 567 c.567T>G c.(565-567)TCT>TCG p.S189S NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TCTCCCTTTCTTGCTCTGATA 0.408 TCIRG1 10312 broad.mit.edu 37 11 67814973 67814973 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr11:67814973G>A uc001one.2 + 11 1347 c.1239G>A c.(1237-1239)ATG>ATA p.M413I TCIRG1_uc001ong.2_Missense_Mutation_p.M197I|TCIRG1_uc001onh.2_Missense_Mutation_p.M115I|TCIRG1_uc001oni.2_5'UTR|TCIRG1_uc009ysd.2_5'Flank NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 413 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 GGCTGCTCATGTTCCTGTTCG 0.637 C11orf63 79864 broad.mit.edu 37 11 122817487 122817487 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr11:122817487G>T uc001pym.2 + 6 2213 c.1916G>T c.(1915-1917)AGA>ATA p.R639I NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 639 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CATAAGAAAAGAAGCAGCAGT 0.383 OR6T1 219874 broad.mit.edu 37 11 123813599 123813599 + Missense_Mutation SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr11:123813599A>G uc010sab.1 - 1 947 c.947T>C c.(946-948)CTG>CCG p.L316P NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 316 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TGTGACCCTCAGTTTCATCAC 0.428 HDAC7 51564 broad.mit.edu 37 12 48183352 48183352 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr12:48183352C>T uc010slo.1 - 18 2296 c.2101G>A c.(2101-2103)GCT>ACT p.A701T HDAC7_uc009zku.2_Intron|HDAC7_uc001rqe.2_Missense_Mutation_p.A135T|HDAC7_uc001rqj.3_Missense_Mutation_p.A664T|HDAC7_uc001rqk.3_Missense_Mutation_p.A684T|HDAC7_uc010slp.1_5'Flank NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 isoform a 662 Histone deacetylase. negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) CGCACCACAGCGAAACCATTC 0.532 NCKAP1L 3071 broad.mit.edu 37 12 54913027 54913027 + Silent SNP C C A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr12:54913027C>A uc001sgc.3 + 16 1615 c.1536C>A c.(1534-1536)GCC>GCA p.A512A NCKAP1L_uc010sox.1_Silent_p.A54A|NCKAP1L_uc010soy.1_Silent_p.A462A NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 512 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 CTGACTTAGCCAAGGTGATGA 0.483 NAV3 89795 broad.mit.edu 37 12 78513023 78513023 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr12:78513023C>T uc001syp.2 + 15 3220 c.3047C>T c.(3046-3048)ACC>ATC p.T1016I NAV3_uc001syo.2_Missense_Mutation_p.T1016I|NAV3_uc010sub.1_Missense_Mutation_p.T516I|NAV3_uc009zsf.2_Missense_Mutation_p.T24I NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1016 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TTAGGGAAAACCGATGATGCC 0.388 HNSCC(70;0.22) TBX3 6926 broad.mit.edu 37 12 115120924 115120924 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr12:115120924A>C uc001tvt.1 - 1 1046 c.82T>G c.(82-84)TTC>GTC p.F28V TBX3_uc001tvu.1_Missense_Mutation_p.F28V|TBX3_uc010syw.1_Missense_Mutation_p.F28V NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 28 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CTCATGGCGAAGTCCGGCGCC 0.701 OREG0022153 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NCOR2 9612 broad.mit.edu 37 12 124824647 124824647 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr12:124824647G>A uc010tay.1 - 39 5778 c.5622C>T c.(5620-5622)ACC>ACT p.T1874T NCOR2_uc010taz.1_Silent_p.T1858T|NCOR2_uc010tax.1_5'UTR NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 1875 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGCATCCTGGGTCCGAGGGG 0.502 TMEM132D 121256 broad.mit.edu 37 12 129566427 129566427 + Silent SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr12:129566427T>G uc009zyl.1 - 7 2128 c.1800A>C c.(1798-1800)TCA>TCC p.S600S TMEM132D_uc001uia.2_Silent_p.S138S NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 600 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTTGCCAGTCTGAGCCCAGCA 0.642 SACS 26278 broad.mit.edu 37 13 23912948 23912948 + Silent SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr13:23912948A>G uc001uon.2 - 10 5656 c.5067T>C c.(5065-5067)AGT>AGC p.S1689S SACS_uc001uoo.2_Silent_p.S1542S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1689 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTGACTTTACACTCTGAGTGA 0.348 NALCN 259232 broad.mit.edu 37 13 101735457 101735457 + Silent SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr13:101735457A>G uc001vox.1 - 32 3865 c.3676T>C c.(3676-3678)TTG>CTG p.L1226L NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1226 Helical; Name=S1 of repeat IV; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACAGAGAGCAACACCGACTGG 0.413 DAOA 267012 broad.mit.edu 37 13 106142294 106142294 + Missense_Mutation SNP G G C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr13:106142294G>C uc001vqb.2 + 4 600 c.326G>C c.(325-327)AGA>ACA p.R109T DAOA_uc010tjf.1_Missense_Mutation_p.R38T|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.R81T|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA NM_172370 NP_758958 P59103 DAOA_HUMAN D-amino acid oxidase activator isoform 1 109 Golgi apparatus 0 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) ttcatggcaagaaactatgag 0 OR4Q3 441669 broad.mit.edu 37 14 20215736 20215736 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr14:20215736A>C uc010tkt.1 + 1 150 c.150A>C c.(148-150)CAA>CAC p.Q50H NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAACAGTGCAAGCCCATGCTC 0.398 SLC24A4 123041 broad.mit.edu 37 14 92909097 92909097 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr14:92909097C>T uc001yak.2 + 6 492 c.468C>T c.(466-468)ATC>ATT p.I156I SLC24A4_uc001yai.2_Silent_p.I109I|SLC24A4_uc010twm.1_Silent_p.I173I|SLC24A4_uc001yaj.2_Silent_p.I156I|SLC24A4_uc010auj.2_Silent_p.I64I|SLC24A4_uc010twn.1_5'Flank NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 173 Alpha-1.|Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) TGGGCACCATCGTGGGCTCTG 0.612 KIAA1409 57578 broad.mit.edu 37 14 94044282 94044282 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr14:94044282G>A uc001ybv.1 + 15 1858 c.1775G>A c.(1774-1776)CGT>CAT p.R592H KIAA1409_uc001ybs.1_Missense_Mutation_p.R592H NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 769 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AGTCCTTTGCGTAGTCCGTTT 0.438 RTL1 388015 broad.mit.edu 37 14 101348302 101348302 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr14:101348302C>T uc010txj.1 - 1 2883 c.2824G>A c.(2824-2826)GAG>AAG p.E942K MIR433_hsa-mir-433|MI0001723_RNA|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 942 pancreas(1) 1 ATGGGCTCCTCGGTGTTCTCC 0.522 RYR3 6263 broad.mit.edu 37 15 33831637 33831637 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr15:33831637G>A uc001zhi.2 + 6 590 c.520G>A c.(520-522)GTC>ATC p.V174I RYR3_uc010bar.2_Missense_Mutation_p.V174I NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 174 MIR 2.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTCATCCTCGTCAGCGTGTC 0.433 CASC5 57082 broad.mit.edu 37 15 40915077 40915077 + Missense_Mutation SNP T T C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr15:40915077T>C uc010bbs.1 + 11 2854 c.2693T>C c.(2692-2694)ATG>ACG p.M898T CASC5_uc010ucq.1_Missense_Mutation_p.M722T|CASC5_uc001zme.2_Missense_Mutation_p.M872T|CASC5_uc010bbt.1_Missense_Mutation_p.M872T NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 898 1.|2 X 104 AA approximate repeats. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAGAATGATATGGATATCACT 0.333 TMEM62 80021 broad.mit.edu 37 15 43438759 43438759 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr15:43438759C>T uc001zqr.2 + 5 824 c.545C>T c.(544-546)TCG>TTG p.S182L TMEM62_uc010bda.2_Missense_Mutation_p.S52L NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN transmembrane protein 62 182 integral to membrane ovary(1)|breast(1) 2 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) GGCAACTATTCGTTCATCTGT 0.393 AKAP13 11214 broad.mit.edu 37 15 86122866 86122866 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr15:86122866G>A uc002blv.1 + 7 1737 c.1567G>A c.(1567-1569)GTC>ATC p.V523I AKAP13_uc002blt.1_Missense_Mutation_p.V523I|AKAP13_uc002blu.1_Missense_Mutation_p.V523I NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 523 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TGACGTGCACGTCACAAGTAA 0.473 ACAN 176 broad.mit.edu 37 15 89389036 89389036 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr15:89389036G>A uc010upo.1 + 7 1726 c.1352G>A c.(1351-1353)GGC>GAC p.G451D ACAN_uc002bmx.2_Missense_Mutation_p.G451D|ACAN_uc010upp.1_Missense_Mutation_p.G451D|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 451 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCTGGCCTGGGCCCTGCCACG 0.617 ASB7 140460 broad.mit.edu 37 15 101169958 101169958 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr15:101169958C>T uc002bwk.2 + 5 1297 c.528C>T c.(526-528)ATC>ATT p.I176I ASB7_uc002bwj.2_Silent_p.I176I NM_198243 NP_937886 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box-containing protein 7 176 ANK 5. intracellular signal transduction skin(1) 1 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) ATGCCAACATCGACATTCAGA 0.488 OR4F15 390649 broad.mit.edu 37 15 102358889 102358889 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr15:102358889C>T uc010uts.1 + 1 500 c.500C>T c.(499-501)CCT>CTT p.P167L NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GTAGATTTACCTTTTTGTGGT 0.423 ABCC1 4363 broad.mit.edu 37 16 16215891 16215891 + Silent SNP G G A rs4148377 TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr16:16215891G>A uc010bvi.2 + 24 3625 c.3450G>A c.(3448-3450)CCG>CCA p.P1150P ABCC1_uc010bvj.2_Silent_p.P1091P|ABCC1_uc010bvk.2_Silent_p.P1094P|ABCC1_uc010bvl.2_Silent_p.P1150P|ABCC1_uc010bvm.2_Silent_p.P1035P|ABCC1_uc002del.3_Silent_p.P1044P NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1150 Cytoplasmic.|ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GCCGCTCCCCGGTCTATTCCC 0.607 HYDIN 54768 broad.mit.edu 37 16 70926295 70926295 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr16:70926295T>G uc002ezr.2 - 56 9511 c.9383A>C c.(9382-9384)AAG>ACG p.K3128T NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3129 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GTGCTCAATCTTCACTTCCTT 0.473 EFNB3 1949 broad.mit.edu 37 17 7611470 7611470 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr17:7611470G>A uc002gis.2 + 2 714 c.317G>A c.(316-318)CGC>CAC p.R106H NM_001406 NP_001397 Q15768 EFNB3_HUMAN ephrin-B3 precursor 106 Extracellular (Potential). cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity ovary(1) 1 all_cancers(10;1.14e-06)|Prostate(122;0.081) ACTTGTGATCGCCCAGACCTG 0.557 OTOP3 347741 broad.mit.edu 37 17 72938070 72938070 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr17:72938070C>T uc010wrr.1 + 3 565 c.565C>T c.(565-567)CGC>TGC p.R189C OTOP3_uc010wrq.1_Missense_Mutation_p.R171C NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN otopetrin 3 189 integral to membrane|intracellular zinc ion binding ovary(1) 1 all_lung(278;0.151)|Lung NSC(278;0.185) GAGCCACATCCGCTGCAAGTC 0.587 CASKIN2 57513 broad.mit.edu 37 17 73499210 73499210 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr17:73499210C>T uc002joc.2 - 18 2495 c.1945G>A c.(1945-1947)GAG>AAG p.E649K CASKIN2_uc010wsc.1_Missense_Mutation_p.E567K NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 649 cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCAGTCCCTCGATGGCCATC 0.701 ITGB4 3691 broad.mit.edu 37 17 73732147 73732147 + Missense_Mutation SNP C C A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr17:73732147C>A uc002jpg.2 + 14 1860 c.1673C>A c.(1672-1674)TCC>TAC p.S558Y ITGB4_uc002jph.2_Missense_Mutation_p.S558Y|ITGB4_uc010dgo.2_Missense_Mutation_p.S558Y|ITGB4_uc002jpi.3_Missense_Mutation_p.S558Y|ITGB4_uc010dgp.1_Missense_Mutation_p.S558Y|ITGB4_uc002jpj.2_Missense_Mutation_p.S558Y|ITGB4_uc010wsh.1_Missense_Mutation_p.S113Y NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 558 III.|Extracellular (Potential).|Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGACGCTGCTCCATGGGCCAG 0.627 SLC38A10 124565 broad.mit.edu 37 17 79219698 79219698 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr17:79219698G>A uc002jzz.1 - 16 3393 c.3018C>T c.(3016-3018)GAC>GAT p.D1006D SLC38A10_uc002jzy.1_Silent_p.D924D NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 1006 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GGACAGCAGCGTCCTCCCCGC 0.701 BAHCC1 57597 broad.mit.edu 37 17 79429767 79429767 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr17:79429767G>A uc002kaf.2 + 25 7385 c.7385G>A c.(7384-7386)CGG>CAG p.R2462Q NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 2462 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CCCCCACAGCGGCGTGGCATG 0.612 CETN1 1068 broad.mit.edu 37 18 580610 580610 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr18:580610G>A uc002kko.1 + 1 244 c.202G>A c.(202-204)GAG>AAG p.E68K NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 68 EF-hand 2. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 CAGGAAGGAAGAGATGAAGAA 0.557 CDH2 1000 broad.mit.edu 37 18 25593761 25593761 + Silent SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr18:25593761G>T uc002kwg.2 - 3 744 c.285C>A c.(283-285)CTC>CTA p.L95L CDH2_uc010xbn.1_Silent_p.L64L NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 95 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GCTCAGAAGAGAGTGGAAAGC 0.448 DSEL 92126 broad.mit.edu 37 18 65178313 65178313 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr18:65178313T>G uc002lke.1 - 2 4787 c.3563A>C c.(3562-3564)AAT>ACT p.N1188T NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1178 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AACATTAGTATTAGTTGGTGA 0.368 MED16 10025 broad.mit.edu 37 19 879980 879980 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr19:879980G>A uc002lqd.1 - 8 1461 c.1310C>T c.(1309-1311)TCG>TTG p.S437L MED16_uc010drw.1_Missense_Mutation_p.S262L|MED16_uc002lqe.2_Missense_Mutation_p.S426L|MED16_uc002lqf.2_Missense_Mutation_p.S426L|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.S426L|MED16_uc010xfx.1_Missense_Mutation_p.S282L|MED16_uc010xfy.1_Intron NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 437 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGACGTCCACGATAGCTGCAT 0.682 FZR1 51343 broad.mit.edu 37 19 3533300 3533300 + Silent SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr19:3533300G>T uc010dtk.2 + 11 1285 c.1251G>T c.(1249-1251)ACG>ACT p.T417T FZR1_uc002lxt.2_Silent_p.T417T|FZR1_uc002lxv.2_Silent_p.T328T NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Fzr1 protein isoform 1 417 WD 6. activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding lung(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGAGCACGCACGGCTACT 0.662 ZNF562 54811 broad.mit.edu 37 19 9764240 9764240 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr19:9764240G>A uc010xks.1 - 6 829 c.666C>T c.(664-666)CAC>CAT p.H222H ZNF562_uc002mly.2_Silent_p.H222H|ZNF562_uc002mlx.2_Silent_p.H150H|ZNF562_uc010xkt.1_Silent_p.H185H|ZNF562_uc010xku.1_Silent_p.H153H|ZNF562_uc010xkv.1_Silent_p.H221H|ZNF562_uc010xkw.1_Silent_p.H106H NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 222 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGATTCCCATGTGATTATCAA 0.413 NCAN 1463 broad.mit.edu 37 19 19339331 19339331 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr19:19339331G>A uc002nlz.2 + 8 3001 c.2902G>A c.(2902-2904)GAC>AAC p.D968N NCAN_uc010ecc.1_Missense_Mutation_p.D532N NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 968 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GGGCATAGAGGACTTCGAACT 0.642 ATP4A 495 broad.mit.edu 37 19 36050871 36050871 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr19:36050871C>T uc002oal.1 - 7 921 c.892G>A c.(892-894)GAG>AAG p.E298K ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 298 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TGCTCGATCTCGATAGCGATG 0.587 PAPL 390928 broad.mit.edu 37 19 39592115 39592115 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr19:39592115G>A uc002oki.2 + 11 1325 c.1051G>A c.(1051-1053)GGC>AGC p.G351S PAPL_uc010egl.2_Silent_p.T309T NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN iron/zinc purple acid phosphatase-like protein 351 extracellular region acid phosphatase activity|metal ion binding 0 GGTATTTAACGGCAGCCGAGA 0.612 ZNF677 342926 broad.mit.edu 37 19 53741786 53741786 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr19:53741786T>G uc002qbf.1 - 5 379 c.194A>C c.(193-195)AAG>ACG p.K65T ZNF677_uc002qbg.1_Missense_Mutation_p.K65T NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) TGATAATCCCTTGCTTGTAAA 0.303 ZNF606 80095 broad.mit.edu 37 19 58490018 58490018 + Missense_Mutation SNP T T C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr19:58490018T>C uc002qqw.2 - 7 2648 c.2030A>G c.(2029-2031)GAG>GGG p.E677G ZNF606_uc010yhp.1_Missense_Mutation_p.E587G NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 677 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) ATAGGGTTTCTCACCAGTGTG 0.418 RAB10 10890 broad.mit.edu 37 2 26350094 26350094 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr2:26350094G>A uc002rgv.2 + 4 1158 c.409G>A c.(409-411)GGA>AGA p.G137R NM_016131 NP_057215 P61026 RAB10_HUMAN ras-related GTP-binding protein RAB10 137 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAAAGGAAAAGGAGAACAGGT 0.318 VAX2 25806 broad.mit.edu 37 2 71160232 71160232 + Missense_Mutation SNP T T A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr2:71160232T>A uc002shh.2 + 3 803 c.771T>A c.(769-771)GAT>GAA p.D257E ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.2_5'Flank|ATP6V1B1_uc010fdv.2_5'Flank|ATP6V1B1_uc010fdw.2_5'Flank NM_012476 NP_036608 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 257 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGCTCCTGGATCTGCCTGCCG 0.647 BAZ2B 29994 broad.mit.edu 37 2 160245918 160245918 + Missense_Mutation SNP C C G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr2:160245918C>G uc002uao.2 - 21 3506 c.3154G>C c.(3154-3156)GAA>CAA p.E1052Q BAZ2B_uc002uap.2_Missense_Mutation_p.E1016Q NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1052 Lys-rich.|Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 ATTTCTAATTCTAATCTTCGC 0.338 SCN7A 6332 broad.mit.edu 37 2 167301492 167301492 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr2:167301492T>G uc002udu.1 - 12 1533 c.1406A>C c.(1405-1407)AAG>ACG p.K469T SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 469 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TGGGCATATCTTCTTGGATTT 0.229 TTN 7273 broad.mit.edu 37 2 179594026 179594026 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr2:179594026A>C uc010zfg.1 - 61 15349 c.15125T>G c.(15124-15126)GTT>GGT p.V5042G TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1703G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5969 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) TTTCAGGGCAACTCTAGTACT 0.403 THAP4 51078 broad.mit.edu 37 2 242573185 242573185 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr2:242573185C>T uc002wbt.2 - 2 610 c.387G>A c.(385-387)CCG>CCA p.P129P NM_015963 NP_057047 Q8WY91 THAP4_HUMAN THAP domain containing 4 isoform 1 129 DNA binding|metal ion binding 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) CACTCGAGGACGGTGACCAAC 0.657 ACSS1 84532 broad.mit.edu 37 20 24993556 24993556 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr20:24993556G>A uc002wub.2 - 11 2477 c.1599C>T c.(1597-1599)GAC>GAT p.D533D ACSS1_uc002wuc.2_Silent_p.D531D|ACSS1_uc010gdc.2_Silent_p.D328D|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Silent_p.D450D NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 533 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGTAAGCCCCGTCTCCAGTGA 0.572 PTPRT 11122 broad.mit.edu 37 20 41420056 41420056 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr20:41420056G>T uc002xkg.2 - 3 449 c.265C>A c.(265-267)CAC>AAC p.H89N PTPRT_uc010ggj.2_Missense_Mutation_p.H89N NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 89 Extracellular (Potential).|MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGAGAAGGTGGGCCTTCTGG 0.537 TP53TG5 27296 broad.mit.edu 37 20 44002629 44002629 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr20:44002629G>A uc002xny.2 - 5 872 c.791C>T c.(790-792)GCC>GTC p.A264V SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron NM_014477 NP_055292 Q9Y2B4 T53G5_HUMAN TP53-target gene 5 protein 264 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1) 1 CGCACCTCTGGCTCTCGTCCA 0.592 OREG0025981 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PTK6 5753 broad.mit.edu 37 20 62165514 62165514 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr20:62165514G>A uc002yfg.2 - 3 547 c.507C>T c.(505-507)CCC>CCT p.P169P PTK6_uc011aay.1_Silent_p.P68P|PTK6_uc011aaz.1_5'Flank NM_005975 NP_005966 Q13882 PTK6_HUMAN PTK6 protein tyrosine kinase 6 169 SH2. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|kidney(1) 2 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) CCTTCCGGCAGGGCGCGGCCA 0.687 DNAJC5 80331 broad.mit.edu 37 20 62562251 62562251 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr20:62562251C>T uc002yhf.2 + 4 539 c.369C>T c.(367-369)TGC>TGT p.C123C DNAJC5_uc002yhg.1_Silent_p.C123C|DNAJC5_uc002yhh.2_RNA NM_025219 NP_079495 Q9H3Z4 DNJC5_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 123 Poly-Cys. neurotransmitter secretion|protein folding clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane heat shock protein binding|unfolded protein binding pancreas(1) 1 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) actgctgctgctgtctgtgct 0.488 ADAMTS5 11096 broad.mit.edu 37 21 28338365 28338365 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr21:28338365C>T uc002ymg.2 - 1 1075 c.346G>A c.(346-348)GCA>ACA p.A116T NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 116 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CCGCCTCCTGCGGGCACGAAG 0.682 DSCR3 10311 broad.mit.edu 37 21 38612909 38612909 + Missense_Mutation SNP C C A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr21:38612909C>A uc002ywf.1 - 3 328 c.89G>T c.(88-90)AGT>ATT p.S30I DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_5'UTR|DSCR3_uc010gnl.2_Missense_Mutation_p.S30I|DSCR3_uc011aeg.1_Missense_Mutation_p.S30I|DSCR3_uc011aeh.1_Intron NM_006052 NP_006043 O14972 DSCR3_HUMAN Down syndrome critical region protein 3 30 vacuolar transport nucleus|retromer complex 0 TGAATCCTTACTCGATATGAC 0.453 TRPM2 7226 broad.mit.edu 37 21 45833814 45833814 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr21:45833814C>T uc002zet.1 + 21 3216 c.3003C>T c.(3001-3003)ACC>ACT p.T1001T TRPM2_uc002zeu.1_Silent_p.T1001T|TRPM2_uc002zew.1_Silent_p.T1001T|TRPM2_uc010gpt.1_Silent_p.T1001T|TRPM2_uc002zex.1_Silent_p.T787T|TRPM2_uc002zey.1_Silent_p.T514T NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1001 Extracellular (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCAATGGCACCGACCCCTACA 0.612 EIF4ENIF1 56478 broad.mit.edu 37 22 31851888 31851888 + Missense_Mutation SNP C C T rs138781990 TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr22:31851888C>T uc003akz.1 - 8 1213 c.1049G>A c.(1048-1050)CGA>CAA p.R350Q EIF4ENIF1_uc003akx.1_Missense_Mutation_p.R29Q|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.R29Q|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R350Q|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.R187Q NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 350 nucleus protein binding|protein transporter activity ovary(1) 1 ACTGCTGGATCGGCTTCCTGA 0.478 OREG0003517 type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay EP300 2033 broad.mit.edu 37 22 41572924 41572924 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr22:41572924C>T uc003azl.3 + 31 5604 c.5209C>T c.(5209-5211)CGC>TGC p.R1737C NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1737 Binding region for E1A adenovirus.|TAZ-type 2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GAGTATCCAGCGCTGCATCCA 0.562 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome MOV10L1 54456 broad.mit.edu 37 22 50555597 50555597 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr22:50555597G>A uc003bjj.2 + 9 1354 c.1271G>A c.(1270-1272)CGC>CAC p.R424H MOV10L1_uc003bjk.3_Missense_Mutation_p.R424H|MOV10L1_uc011arp.1_Missense_Mutation_p.R404H|MOV10L1_uc011arq.1_Missense_Mutation_p.R185H|MOV10L1_uc010hao.1_RNA NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 424 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AATCCTGGCCGCTGCAAGGAG 0.388 CNTN4 152330 broad.mit.edu 37 3 2908444 2908444 + Missense_Mutation SNP T T A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr3:2908444T>A uc003bpc.2 + 7 684 c.463T>A c.(463-465)TAT>AAT p.Y155N CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.Y155N NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 155 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AGAGCTGAGTTATGCCTGGAT 0.353 TTLL3 26140 broad.mit.edu 37 3 9868870 9868870 + Missense_Mutation SNP G G A rs35644696 byFrequency TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr3:9868870G>A uc003btg.2 + 9 1280 c.1064G>A c.(1063-1065)CGC>CAC p.R355H ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.R322H|TTLL3_uc003btf.3_Intron|TTLL3_uc010hco.1_Missense_Mutation_p.R291H|TTLL3_uc003bth.3_Missense_Mutation_p.R143H|TTLL3_uc011atj.1_Missense_Mutation_p.R291H|TTLL3_uc003btj.3_Missense_Mutation_p.R143H|TTLL3_uc003bti.3_Missense_Mutation_p.R143H|TTLL3_uc003btk.2_Missense_Mutation_p.R158H NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 355 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) TGGTTCTACCGCGACAGCTAT 0.393 CCR3 1232 broad.mit.edu 37 3 46307574 46307574 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr3:46307574C>T uc003cpg.1 + 4 1468 c.925C>T c.(925-927)CGG>TGG p.R309W CCR3_uc003cpi.1_Missense_Mutation_p.R309W|CCR3_uc003cpj.1_Missense_Mutation_p.R309W|CCR3_uc003cpk.1_Missense_Mutation_p.R330W|CCR3_uc010hjb.1_Missense_Mutation_p.R327W|CCR3_uc003cpl.1_Missense_Mutation_p.R342W NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 309 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) AGAGAGGTTCCGGAAGTACCT 0.547 BSN 8927 broad.mit.edu 37 3 49694711 49694711 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr3:49694711C>T uc003cxe.3 + 5 7836 c.7722C>T c.(7720-7722)CCC>CCT p.P2574P NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2574 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGACTGAGCCCTGTGTGGTCA 0.642 ACPL2 92370 broad.mit.edu 37 3 141011729 141011729 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr3:141011729C>T uc003etu.2 + 8 1424 c.1125C>T c.(1123-1125)TAC>TAT p.Y375Y ACPL2_uc003etv.2_Silent_p.Y375Y|ACPL2_uc011bna.1_Silent_p.Y337Y|ACPL2_uc011bnb.1_Silent_p.Y358Y NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 375 extracellular region acid phosphatase activity skin(1) 1 TTGCCCTCTACTCTGCTCATG 0.562 NAALADL2 254827 broad.mit.edu 37 3 174814828 174814828 + Missense_Mutation SNP C C A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr3:174814828C>A uc003fit.2 + 2 379 c.292C>A c.(292-294)CAG>AAG p.Q98K NAALADL2_uc003fiu.1_Missense_Mutation_p.Q91K NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 98 Cytoplasmic (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AGGAAGGTTCCAGAGACTTCA 0.438 RGS12 6002 broad.mit.edu 37 4 3318625 3318625 + Missense_Mutation SNP C C T rs149618433 TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr4:3318625C>T uc003ggw.2 + 2 1632 c.728C>T c.(727-729)ACG>ATG p.T243M RGS12_uc003ggu.2_Missense_Mutation_p.T243M|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.T243M|RGS12_uc003ggx.1_Missense_Mutation_p.T243M NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 243 PID. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTCCTTCCACGAGCTCCAAC 0.532 SLIT2 9353 broad.mit.edu 37 4 20535276 20535276 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr4:20535276G>A uc003gpr.1 + 18 1974 c.1770G>A c.(1768-1770)ACG>ACA p.T590T SLIT2_uc003gps.1_Silent_p.T582T NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 590 LRR 14. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TACTTCTTACGAGTAATCGTT 0.348 UGT2B10 7365 broad.mit.edu 37 4 69879852 69879852 + Missense_Mutation SNP C C G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr4:69879852C>G uc011cao.1 - 6 913 c.777G>C c.(775-777)CAG>CAC p.Q259H UGT2B10_uc011can.1_Missense_Mutation_p.Q175H P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 296 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 CTCCAGAGCTCTGTACAAACT 0.418 PTPN13 5783 broad.mit.edu 37 4 87610307 87610307 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr4:87610307A>C uc003hpz.2 + 5 990 c.510A>C c.(508-510)AAA>AAC p.K170N PTPN13_uc003hpy.2_Missense_Mutation_p.K170N|PTPN13_uc003hqa.2_Missense_Mutation_p.K170N|PTPN13_uc003hqb.2_Missense_Mutation_p.K170N NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 170 KIND. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CCTACGTGAAACACTTGGTAA 0.373 ANP32C 23520 broad.mit.edu 37 4 165118489 165118489 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr4:165118489G>A uc011cjk.1 - 1 375 c.375C>T c.(373-375)AAC>AAT p.N125N MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 125 LRR 4. 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) CTCCGTAGTCGTTCAGGTTGG 0.458 TLL1 7092 broad.mit.edu 37 4 166924594 166924594 + Missense_Mutation SNP C C G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr4:166924594C>G uc003irh.1 + 6 1331 c.684C>G c.(682-684)ATC>ATG p.I228M TLL1_uc011cjn.1_Missense_Mutation_p.I228M|TLL1_uc011cjo.1_Missense_Mutation_p.I52M NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 228 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CAATCTCTATCGGCAAGAACT 0.458 FAT1 2195 broad.mit.edu 37 4 187516942 187516942 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr4:187516942G>A uc003izf.2 - 26 13227 c.13039C>T c.(13039-13041)CCT>TCT p.P4347S FAT1_uc010isn.2_5'UTR|FAT1_uc003ize.2_Missense_Mutation_p.P238S NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4347 Cytoplasmic (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TCCTCTAGAGGCTTCTTGGAA 0.493 HNSCC(5;0.00058) TAS2R1 50834 broad.mit.edu 37 5 9629933 9629933 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:9629933A>C uc003jem.1 - 1 531 c.212T>G c.(211-213)TTC>TGC p.F71C NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 71 Helical; Name=2; (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 TTCTATGAAGAAGATAACAAT 0.378 DNAH5 1767 broad.mit.edu 37 5 13786317 13786317 + Missense_Mutation SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:13786317A>G uc003jfd.2 - 52 8833 c.8791T>C c.(8791-8793)TTT>CTT p.F2931L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2931 AAA 4 (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) GCATCTGCAAAGAACACCATG 0.488 Kartagener_syndrome P4HA2 8974 broad.mit.edu 37 5 131553527 131553527 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:131553527G>T uc003kwh.2 - 3 661 c.97C>A c.(97-99)CTG>ATG p.L33M P4HA2_uc003kwg.2_Missense_Mutation_p.L33M|P4HA2_uc003kwi.2_Missense_Mutation_p.L33M|P4HA2_uc003kwk.2_Missense_Mutation_p.L33M|P4HA2_uc003kwl.2_Missense_Mutation_p.L33M|P4HA2_uc003kwj.2_Missense_Mutation_p.L33M NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 33 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) GCATAAATCAGGTCAGTCATG 0.498 SEPT8 23176 broad.mit.edu 37 5 132101145 132101145 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:132101145C>T uc003kxr.2 - 2 345 c.107G>A c.(106-108)AGC>AAC p.S36N SEPT8_uc003kxs.1_Missense_Mutation_p.S36N|SEPT8_uc003kxu.2_Missense_Mutation_p.S36N|SEPT8_uc011cxi.1_Missense_Mutation_p.S36N|SEPT8_uc003kxv.2_Missense_Mutation_p.S36N|SEPT8_uc003kxt.2_5'UTR NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN septin 8 isoform a 36 cell cycle septin complex GTP binding|protein binding ovary(2) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACCGACTTGCTGACCAGCTG 0.607 UQCRQ 27089 broad.mit.edu 37 5 132203255 132203255 + Missense_Mutation SNP C C G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:132203255C>G uc003kya.1 + 3 304 c.230C>G c.(229-231)GCC>GGC p.A77G GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank NM_014402 NP_055217 O14949 QCR8_HUMAN ubiquinol-cytochrome c reductase, complex III 77 KNPAAYENDK -> RIQLPMKMTNEQRIRMTVPCL (in Ref. 1; BAA23321). respiratory electron transport chain mitochondrial inner membrane|respiratory chain ubiquinol-cytochrome-c reductase activity 0 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AATCCAGCTGCCTATGAAAAT 0.423 PCDHA1 56147 broad.mit.edu 37 5 140166387 140166387 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:140166387C>T uc003lhb.2 + 1 512 c.512C>T c.(511-513)ACG>ATG p.T171M PCDHA1_uc003lha.2_Missense_Mutation_p.T171M|PCDHA1_uc003lgz.2_Missense_Mutation_p.T171M NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 171 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAACGTACACGCTCAGCCCG 0.398 PCDHB5 26167 broad.mit.edu 37 5 140517197 140517197 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:140517197C>T uc003liq.2 + 1 2398 c.2181C>T c.(2179-2181)CCC>CCT p.P727P NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 727 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCGGTGCCCGAGGGCCCCT 0.667 PCDHGA7 56108 broad.mit.edu 37 5 140763523 140763523 + Missense_Mutation SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:140763523A>G uc003lka.1 + 1 1057 c.1057A>G c.(1057-1059)AGT>GGT p.S353G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.S353G NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 353 Cadherin 4.|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) GACGTCTTTAAGTAGCTCAAT 0.433 AARS2 57505 broad.mit.edu 37 6 44270562 44270562 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr6:44270562C>T uc010jza.1 - 17 2344 c.2341G>A c.(2341-2343)GTC>ATC p.V781I SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 781 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) TCCCCAGTGACGGCCAGCAGG 0.627 DDX43 55510 broad.mit.edu 37 6 74104733 74104733 + Missense_Mutation SNP G G C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr6:74104733G>C uc003pgw.2 + 1 449 c.105G>C c.(103-105)TTG>TTC p.L35F OOEP_uc003pgv.3_5'UTR|DDX43_uc011dyn.1_RNA NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 35 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 CGGAGGAGTTGAATCGAACAG 0.657 FAM184A 79632 broad.mit.edu 37 6 119345242 119345242 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr6:119345242C>T uc003pyj.2 - 2 1244 c.896G>A c.(895-897)CGA>CAA p.R299Q FAM184A_uc003pyk.3_Missense_Mutation_p.R179Q|FAM184A_uc003pyl.3_Missense_Mutation_p.R179Q NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 299 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 TATAGTTTTTCGTAAAATTGC 0.393 HIVEP2 3097 broad.mit.edu 37 6 143081659 143081659 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr6:143081659G>A uc003qjd.2 - 9 6509 c.5766C>T c.(5764-5766)GAC>GAT p.D1922D NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1922 Asp/Glu-rich (acidic). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CTCCCTGGTCGTCAAAGtcat 0.373 TULP4 56995 broad.mit.edu 37 6 158919781 158919781 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr6:158919781G>A uc003qrf.2 + 12 3308 c.1951G>A c.(1951-1953)GAC>AAC p.D651N TULP4_uc003qrg.2_Missense_Mutation_p.D651N NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 651 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) AATTTCCATGGACTATATTAA 0.433 GNA12 2768 broad.mit.edu 37 7 2770956 2770956 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr7:2770956G>A uc003smu.2 - 4 1169 c.1005C>T c.(1003-1005)TTC>TTT p.F335F GNA12_uc011jwb.1_Silent_p.F318F|GNA12_uc003smt.2_Silent_p.F276F NM_007353 NP_031379 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) 335 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) TCTTCCTGTCGAAGCACTGGA 0.592 PAPOLB 56903 broad.mit.edu 37 7 4900190 4900190 + Missense_Mutation SNP T T C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr7:4900190T>C uc003snk.2 - 1 1436 c.1252A>G c.(1252-1254)AAT>GAT p.N418D RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 417 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) GACTGTGGATTCACATGTGCC 0.408 FSCN1 6624 broad.mit.edu 37 7 5642914 5642914 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr7:5642914G>A uc003sou.2 + 2 973 c.859G>A c.(859-861)GAG>AAG p.E287K FSCN1_uc003sov.2_Missense_Mutation_p.E9K|FSCN1_uc003sow.2_Missense_Mutation_p.E9K NM_003088 NP_003079 Q16658 FSCN1_HUMAN fascin 1 287 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging ovary(1) 1 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) CAATCAGGACGAGGAGACCGA 0.622 BUD31 8896 broad.mit.edu 37 7 99015077 99015077 + Silent SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr7:99015077A>G uc003uqf.2 + 5 444 c.243A>G c.(241-243)GAA>GAG p.E81E BUD31_uc011kiu.1_Silent_p.E81E|BUD31_uc011kiv.1_Silent_p.E81E|BUD31_uc003uqg.3_Silent_p.E81E NM_003910 NP_003901 P41223 BUD31_HUMAN G10 protein 81 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GTATTAAAGAAGGCTATGCAG 0.428 MCM7 4176 broad.mit.edu 37 7 99694968 99694968 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr7:99694968G>T uc003usw.1 - 10 1667 c.1157C>A c.(1156-1158)GCC>GAC p.A386D MCM7_uc003usv.1_Missense_Mutation_p.A210D|MCM7_uc003usx.1_Missense_Mutation_p.A210D NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 386 MCM.|ATP (Potential). cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CTGAGACTTGGCCACACCAGG 0.537 CTTNBP2 83992 broad.mit.edu 37 7 117432148 117432148 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr7:117432148C>T uc003vjf.2 - 4 1194 c.1102G>A c.(1102-1104)GCT>ACT p.A368T NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 368 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGTACAGAAGCGCCAATCAAG 0.527 OR2F2 135948 broad.mit.edu 37 7 143633227 143633227 + Nonsense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr7:143633227G>A uc011ktv.1 + 1 902 c.902G>A c.(901-903)TGG>TAG p.W301* NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) AAGGGGGCCTGGCATAAACTA 0.418 PRKDC 5591 broad.mit.edu 37 8 48817430 48817430 + Missense_Mutation SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr8:48817430A>G uc003xqi.2 - 26 3098 c.3041T>C c.(3040-3042)TTG>TCG p.L1014S PRKDC_uc003xqj.2_Missense_Mutation_p.L1014S|PRKDC_uc011ldh.1_Missense_Mutation_p.L1014S NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1014 HEAT 2. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATTACTTACCAATATAGCTTC 0.289 NHEJ MOS 4342 broad.mit.edu 37 8 57025798 57025798 + Silent SNP C C A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr8:57025798C>A uc011leb.1 - 1 744 c.744G>T c.(742-744)CCG>CCT p.P248P NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 248 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) TCAGGAGCTCCGGGGCGCGGT 0.542 HRSP12 10247 broad.mit.edu 37 8 99118518 99118518 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr8:99118518C>T uc003yii.1 - 3 302 c.208G>A c.(208-210)GGC>AGC p.G70S NM_005836 NP_005827 P52758 UK114_HUMAN heat-responsive protein 12 70 regulation of translational termination nucleus endonuclease activity ovary(1) 1 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) AAGTCACAGCCTGCAGCTTTC 0.343 SLC27A4 10999 broad.mit.edu 37 9 131117991 131117991 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr9:131117991C>T uc004but.2 + 12 1974 c.1690C>T c.(1690-1692)CGC>TGC p.R564C SLC27A4_uc004buu.2_Missense_Mutation_p.R158C NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid 564 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding 0 TGACCTGGAGCGCTTTGCTCA 0.642 C9orf9 11092 broad.mit.edu 37 9 135762802 135762802 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr9:135762802G>A uc004cbx.1 + 3 302 c.191G>A c.(190-192)CGG>CAG p.R64Q C9orf9_uc004cby.1_Missense_Mutation_p.R64Q|C9orf9_uc004cbz.1_Missense_Mutation_p.R64Q NM_018956 NP_061829 Q96E40 CI009_HUMAN Rsb-66 protein 64 p.?(1) 0 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) ACAGACCGGCGGGTTCTGCTC 0.597 REXO4 57109 broad.mit.edu 37 9 136272968 136272968 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr9:136272968A>C uc004cdm.2 - 7 1312 c.1112T>G c.(1111-1113)ATC>AGC p.I371S REXO4_uc011mde.1_Missense_Mutation_p.I234S|REXO4_uc011mdf.1_Missense_Mutation_p.I234S|REXO4_uc004cdn.2_Missense_Mutation_p.I122S|REXO4_uc004cdo.2_Missense_Mutation_p.I199S NM_020385 NP_065118 Q9GZR2 REXO4_HUMAN XPMC2 prevents mitotic catastrophe 2 homolog 371 Exonuclease. nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) GAGCCCAAGGATCTTCTCTGA 0.602 BRD3 8019 broad.mit.edu 37 9 136907002 136907002 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr9:136907002C>T uc004cew.2 - 8 1475 c.1287G>A c.(1285-1287)GCG>GCA p.A429A BRD3_uc004cex.2_Silent_p.A429A NM_007371 NP_031397 Q15059 BRD3_HUMAN bromodomain containing protein 3 429 nucleus protein binding BRD3/C15orf55(3) stomach(4)|midline_organs(3)|kidney(1) 8 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CCATGGGGGCCGCGGGGGCAG 0.662 T NUT|C15orf55 lethal midline carcinoma of young people COL5A1 1289 broad.mit.edu 37 9 137687154 137687154 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr9:137687154G>A uc004cfe.2 + 34 3174 c.2792G>A c.(2791-2793)GGC>GAC p.G931D NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 931 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGAAGCCTGGCCCCAAGGTA 0.602 PPP2R3B 28227 broad.mit.edu 37 X 299398 299398 + Silent SNP C C T rs140356111 byFrequency TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chrX:299398C>T uc004cpg.2 - 12 1719 c.1518G>A c.(1516-1518)GCG>GCA p.A506A PPP2R3B_uc004cpf.2_Silent_p.A107A NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', 506 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACTCCTCGGCCGCGTACTTCT 0.433 ARMCX6 54470 broad.mit.edu 37 X 100871324 100871324 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chrX:100871324C>T uc004ehx.2 - 3 632 c.287G>A c.(286-288)CGA>CAA p.R96Q ARMCX6_uc004ehy.2_Missense_Mutation_p.R96Q NM_019007 NP_061880 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 96 integral to membrane 0 TGGGTGTGCTCGGTTGGCCTT 0.537 ZMAT1 84460 broad.mit.edu 37 X 101139163 101139163 + Silent SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chrX:101139163A>C uc004eim.2 - 2 4221 c.723T>G c.(721-723)ACT>ACG p.T241T ZMAT1_uc011mrl.1_Silent_p.T412T|ZMAT1_uc004ein.2_Silent_p.T241T|ZMAT1_uc011mrm.1_Silent_p.T241T NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 241 nucleus zinc ion binding ovary(1) 1 TTCTGAAACAAGTTTTTGGCT 0.408 DCAF12L2 340578 broad.mit.edu 37 X 125298907 125298907 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chrX:125298907G>A uc004euk.1 - 1 1028 c.1001C>T c.(1000-1002)CCG>CTG p.P334L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 334 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GCGCTGGCGCGGATCCAGGAA 0.617 POLD1 5424 broad.mit.edu 37 19 50918996 50918996 + Frame_Shift_Del DEL C C - TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr19:50918996delC uc002psb.3 + 22 2789 c.2733delC c.(2731-2733)GACfs p.D911fs POLD1_uc002psc.3_Frame_Shift_Del_p.D911fs|POLD1_uc010enx.2_Intron|POLD1_uc010eny.2_Frame_Shift_Del_p.D937fs NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 911 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GGAAGCGGGACCCCGGGAGTG 0.478 DNA_polymerases_(catalytic_subunits) LIFR 3977 broad.mit.edu 37 5 38496666 38496667 + Frame_Shift_Ins INS - - T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:38496666_38496667insT uc010ive.1 - 13 2034_2035 c.1702_1703insA c.(1702-1704)ATAfs p.I568fs LIFR_uc003jli.2_Frame_Shift_Ins_p.I568fs NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 568 Extracellular (Potential).|Fibronectin type-III 4. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) GTAGGAAAGTATTTTTCCATTA 0.381 T PLAG1 salivary adenoma POMGNT1 55624 broad.mit.edu 37 1 46662434 46662439 + In_Frame_Del DEL CTGCGA CTGCGA - TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr1:46662433_46662438GCTGCGA>G uc001cpg.3 - 3 970_975 c.319_324TCGCAGC>C c.(319-324)cgcagc>C p.RS107del POMGNT1_uc010olx.2_In_Frame_Del_p.RS85del|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_5'UTR|POMGNT1_uc001cpe.3_In_Frame_Del_p.RS107del|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cpj.3_Intron NM_001243766 NP_001230695 Q8WZA1 PMGT1_HUMAN Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA. 107 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) CATATACTTTGCTGCGACTTGAATAC 0.621 LIFR 3977 broad.mit.edu 37 5 38496667 38496668 + Frame_Shift_Ins INS - - T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:38496666_38496667A>AT uc010ive.1 - 12 2034_2035 c.1702_1703T>AT c.(1702-1704)atafs p.I568fs LIFR_uc003jli.2_Frame_Shift_Ins_p.I568fs NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 568 Fibronectin type-III 4. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GTAGGAAAGTATTTTTCCATTA 0.381 T PLAG1 salivary adenoma PCDHGC5 56097 broad.mit.edu 37 5 140799481 140799482 + Frame_Shift_Ins INS - - G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr5:140799480_140799481A>AG uc003lkn.2 + 0 2221_2222 c.2054_2055A>AG c.(2053-2055)cagfs p.Q685fs PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Frame_Shift_Ins_p.Q685fs|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank NM_018927 NP_061750 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA. 687 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGACTCCCAGGCTGAGATGC 0.559 RIOK3 8780 broad.mit.edu 37 18 21057017 21057018 + Frame_Shift_Ins INS - - CAGTGAG TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr18:21057016_21057017T>TCAGTGAG uc002kui.4 + 9 1837_1838 c.1220_1221T>TCAGTGAG c.(1219-1221)ctcfs p.L407fs RIOK3_uc010dls.3_Frame_Shift_Ins_p.L407fs|RIOK3_uc010xas.2_Frame_Shift_Ins_p.L391fs|RIOK3_uc010xat.2_Frame_Shift_Ins_p.L151fs NM_003831 NP_003822 O14730 RIOK3_HUMAN Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA. 407 Protein kinase. chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) CATGCTGACCTCAGTGAGTATA 0.356 KIF16B 55614 broad.mit.edu 37 20 16352381 16352383 + In_Frame_Del DEL CTT CTT - TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 g.chr20:16352380_16352382ACTT>A uc002wpg.2 - 20 3534_3536 c.3375_3377AAGT>T c.(3373-3378)gaagtc>gaTc p.1125_1126EV>D KIF16B_uc002wpe.1_In_Frame_Del_p.507_508EV>D|KIF16B_uc002wpf.1_In_Frame_Del_p.507_508EV>D|KIF16B_uc010gch.2_In_Frame_Del_p.1074_1075EV>D|KIF16B_uc010gci.2_In_Frame_Del_p.1125_1126EV>D NM_024704 NP_078980 Q96L93 KI16B_HUMAN Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA. 1125 Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GCGTCTTTGGACTTCTTCTTCAA 0.443