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 PLCH2 9651 broad.mit.edu 37 1 2411404 2411404 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:2411404G>A uc001aji.1 + 3 777 c.503G>A c.(502-504)CGC>CAC p.R168H PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 168 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CGCCGCCAGCGCACCAGGGAC 0.687 NCDN 23154 broad.mit.edu 37 1 36028235 36028235 + Splice_Site SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:36028235G>A uc001bza.2 + 5 1512 c.1385_splice c.e5+1 p.R462_splice NCDN_uc001bzb.2_Splice_Site_p.R462_splice|NCDN_uc001bzc.2_Splice_Site_p.R445_splice NM_001014839 NP_001014839 Q9UBB6 NCDN_HUMAN neurochondrin isoform 1 neuron projection development cytosol|dendrite|neuronal cell body large_intestine(2)|pancreas(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACGCTCTCCGGTGAGTCTGTA 0.597 KIAA0754 643314 broad.mit.edu 37 1 39876294 39876294 + Silent SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:39876294G>A uc009vvt.1 + 1 1119 c.357G>A c.(355-357)CGG>CGA p.R119R MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 Error:Variant_position_missing_in_O94854_after_alignment 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAGAAGGCGGCCAAATGCAG 0.478 C1orf173 127254 broad.mit.edu 37 1 75108729 75108729 + Missense_Mutation SNP C A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:75108729C>A uc001dgg.2 - 4 516 c.297G>T c.(295-297)GAG>GAT p.E99D NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 99 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCTGGATTCGCTCCTTCCTAG 0.323 ZZZ3 26009 broad.mit.edu 37 1 78098001 78098001 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:78098001G>A uc001dhq.2 - 5 1515 c.1039C>T c.(1039-1041)CCA>TCA p.P347S ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P347S|ZZZ3_uc001dhp.2_Missense_Mutation_p.P347S NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 CCGGAGGCTGGCATACTCTCA 0.443 ANKRD35 148741 broad.mit.edu 37 1 145558841 145558841 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:145558841C>T uc001eob.1 + 7 568 c.460C>T c.(460-462)CGT>TGT p.R154C NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Translation_Start_Site NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 154 ANK 4. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCAGGATGGACGTACACCCCT 0.557 SPRR1A 6698 broad.mit.edu 37 1 152957774 152957774 + Missense_Mutation SNP A T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:152957774A>T uc009wnu.1 + 2 146 c.68A>T c.(67-69)CAA>CTA p.Q23L SPRR1A_uc001faw.2_Missense_Mutation_p.Q23L NM_005987 NP_005978 P35321 SPR1A_HUMAN small proline-rich protein 1A 23 2.|2 X 12 AA approximate repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity 0 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGGTGAAACAACCTTGCCAG 0.572 C1orf116 79098 broad.mit.edu 37 1 207195575 207195575 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:207195575C>T uc001hfd.2 - 4 1793 c.1534G>A c.(1534-1536)GGC>AGC p.G512S C1orf116_uc009xcb.1_Missense_Mutation_p.G266S NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 512 cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) AAGAAGGAGCCCTTTCCCAGA 0.567 HIST3H3 8290 broad.mit.edu 37 1 228612678 228612678 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:228612678G>A uc001hsx.1 - 1 349 c.349C>T c.(349-351)CGG>TGG p.R117W NM_003493 NP_003484 Q16695 H31T_HUMAN histone cluster 3, H3 117 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 Prostate(94;0.0724) ATGGTGACCCGTTTGGCATGG 0.627 HIST3H2A 92815 broad.mit.edu 37 1 228645127 228645127 + Silent SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:228645127C>T uc001hsy.2 - 1 434 c.392G>A c.(391-393)TGA>TAA p.*131* HIST3H2BB_uc001hsz.2_5'Flank NM_033445 NP_254280 Q7L7L0 H2A3_HUMAN histone cluster 3, H2a 131 nucleosome assembly nucleosome|nucleus DNA binding ovary(1) 1 Prostate(94;0.183) cgggcggccTCACTTGCCCTT 0.502 OR2C3 81472 broad.mit.edu 37 1 247695195 247695195 + Missense_Mutation SNP A G G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:247695195A>G uc009xgy.2 - 2 981 c.619T>C c.(619-621)TTT>CTT p.F207L C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGGACAACAAAGACAAAGCTG 0.532 IDE 3416 broad.mit.edu 37 10 94267958 94267958 + Missense_Mutation SNP C G G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr10:94267958C>G uc001kia.2 - 8 1141 c.1065G>C c.(1063-1065)TGG>TGC p.W355C NM_004969 NP_004960 P14735 IDE_HUMAN insulin-degrading enzyme isoform 1 precursor 355 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAGTATTAACCCAGCCTGCAA 0.358 SLK 9748 broad.mit.edu 37 10 105762134 105762134 + Missense_Mutation SNP C A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr10:105762134C>A uc001kxo.1 + 9 1232 c.1198C>A c.(1198-1200)CAT>AAT p.H400N SLK_uc001kxp.1_Missense_Mutation_p.H400N NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 400 Glu-rich. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TATTAATGAACATATTACCGA 0.388 SIRT3 23410 broad.mit.edu 37 11 233173 233173 + Missense_Mutation SNP A C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr11:233173A>C uc001lok.3 - 3 550 c.516T>G c.(514-516)GAT>GAG p.D172E SIRT3_uc001loj.3_Missense_Mutation_p.D30E|SIRT3_uc010qvm.1_Missense_Mutation_p.D108E|SIRT3_uc010qvn.1_Missense_Mutation_p.D91E|SIRT3_uc010qvo.1_Missense_Mutation_p.D172E|SIRT3_uc010qvp.1_Missense_Mutation_p.D172E|SIRT3_uc010qvq.1_Missense_Mutation_p.D30E|SIRT3_uc009ybt.1_RNA NM_012239 NP_036371 Q9NTG7 SIRT3_HUMAN sirtuin 3 isoform a 172 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding urinary_tract(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) GGTACGGGAGATCGTACTGCT 0.532 OR51M1 390059 broad.mit.edu 37 11 5411176 5411176 + Missense_Mutation SNP C G G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr11:5411176C>G uc010qzc.1 + 1 548 c.548C>G c.(547-549)TCT>TGT p.S183C HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 183 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACTGTGGATCTGTGGTCCTC 0.517 VWCE 220001 broad.mit.edu 37 11 61048379 61048379 + Silent SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr11:61048379C>T uc001nra.2 - 8 1395 c.1116G>A c.(1114-1116)AGG>AGA p.R372R VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 372 extracellular region calcium ion binding ovary(1) 1 ACTCAGGGCCCCTGGGTGAGG 0.677 SCNN1A 6337 broad.mit.edu 37 12 6463925 6463925 + Nonsense_Mutation SNP G T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:6463925G>T uc001qnx.2 - 7 1522 c.1233C>A c.(1231-1233)TAC>TAA p.Y411* SCNN1A_uc001qnv.2_Nonsense_Mutation_p.Y111*|SCNN1A_uc001qnw.2_Nonsense_Mutation_p.Y470*|SCNN1A_uc010sfb.1_Nonsense_Mutation_p.Y434* NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 411 Extracellular (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) CCTGCTGTGTGTACTTTGAAG 0.557 CLEC1A 51267 broad.mit.edu 37 12 10224014 10224014 + Missense_Mutation SNP C T T rs147882348 by1000genomes TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:10224014C>T uc001qxb.2 - 6 845 c.761G>A c.(760-762)CGT>CAT p.R254H CLEC1A_uc009zhf.2_Missense_Mutation_p.R166H|CLEC1A_uc001qxc.2_Missense_Mutation_p.R166H|CLEC1A_uc001qxd.2_Missense_Mutation_p.R211H|CLEC1A_uc010sgx.1_Missense_Mutation_p.R152H NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 254 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 ACAGACACAACGCTTCAATTC 0.488 KRT18 3875 broad.mit.edu 37 12 53343221 53343221 + Silent SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:53343221C>T uc001sbe.2 + 2 333 c.264C>T c.(262-264)AAC>AAT p.N88N KRT18_uc009zmn.1_Silent_p.N88N|KRT18_uc001sbf.1_Translation_Start_Site|KRT18_uc001sbg.2_Silent_p.N88N|KRT18_uc009zmo.2_Silent_p.N88N|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 88 Coil 1A.|Rod.|Interaction with TRADD.|Necessary for interaction with PNN. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity skin(1) 1 AAAGCCTGAACGACCGCCTGG 0.647 PTPRR 5801 broad.mit.edu 37 12 71094985 71094985 + Silent SNP G T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:71094985G>T uc001swi.1 - 7 1542 c.1126C>A c.(1126-1128)CGA>AGA p.R376R PTPRR_uc001swh.1_Silent_p.R131R|PTPRR_uc009zrs.2_Silent_p.R225R|PTPRR_uc010stq.1_Silent_p.R264R|PTPRR_uc010str.1_Silent_p.R225R NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 376 Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GTGAGAATTCGGCTGGCTGAC 0.458 WSCD2 9671 broad.mit.edu 37 12 108600179 108600179 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:108600179C>T uc001tms.2 + 3 1240 c.496C>T c.(496-498)CGG>TGG p.R166W WSCD2_uc001tmt.2_Missense_Mutation_p.R166W NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 166 WSC 1. integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 CTGTGCTGAACGGTAGGGTCC 0.527 TMEM132D 121256 broad.mit.edu 37 12 130184469 130184469 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:130184469C>T uc009zyl.1 - 2 1182 c.854G>A c.(853-855)CGT>CAT p.R285H NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 285 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) GTTGTCCAGACGCAGTTCTCT 0.522 FAM70B 348013 broad.mit.edu 37 13 114502323 114502323 + Silent SNP C G G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr13:114502323C>G uc001vuh.2 + 5 381 c.354C>G c.(352-354)CCC>CCG p.P118P NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 118 integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) AACCGAGGCCCCTCACCACGG 0.542 OR11H6 122748 broad.mit.edu 37 14 20692418 20692418 + Missense_Mutation SNP C A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr14:20692418C>A uc010tlc.1 + 1 550 c.550C>A c.(550-552)CTT>ATT p.L184I NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TATCTCCCAACTTCCCTTCTG 0.507 RPL10L 140801 broad.mit.edu 37 14 47120841 47120841 + Frame_Shift_Del DEL G - - TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr14:47120841delG uc001wwg.2 - 1 188 c.99delC c.(97-99)ATCfs p.I33fs NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 33 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 CCAGGTCAAAGATGCGGATCT 0.537 MAPKBP1 23005 broad.mit.edu 37 15 42106769 42106769 + Silent SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr15:42106769G>A uc001zok.3 + 11 1306 c.1020G>A c.(1018-1020)GCG>GCA p.A340A MAPKBP1_uc001zoj.3_Silent_p.A334A|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Silent_p.A334A|MAPKBP1_uc010udb.1_Silent_p.A222A|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Intron NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 340 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CTGGAGTGGCGAATGCCAGGT 0.488 MAPKBP1 23005 broad.mit.edu 37 15 42111074 42111074 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr15:42111074G>A uc001zok.3 + 21 2514 c.2228G>A c.(2227-2229)CGT>CAT p.R743H MAPKBP1_uc001zoj.3_Missense_Mutation_p.R737H|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R244H|MAPKBP1_uc010bci.2_Missense_Mutation_p.R737H|MAPKBP1_uc010udb.1_Missense_Mutation_p.R576H|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R244H NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 743 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) ATGAGGCAGCGTCTGGCCGAG 0.602 ATP8B4 79895 broad.mit.edu 37 15 50339659 50339659 + Missense_Mutation SNP A T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr15:50339659A>T uc001zxu.2 - 4 232 c.90T>A c.(88-90)GAT>GAA p.D30E ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 30 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.D30D(1) skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GGATACGATTATCCTGGAAAA 0.373 PTX4 390667 broad.mit.edu 37 16 1536134 1536134 + Missense_Mutation SNP C T T rs149572258 TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr16:1536134C>T uc010uvf.1 - 3 1228 c.1228G>A c.(1228-1230)GAC>AAC p.D410N NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 415 Pentaxin. extracellular region metal ion binding 0 TCGGAGCTGTCGAATCCGCCC 0.652 SRRM2 23524 broad.mit.edu 37 16 2817214 2817214 + Missense_Mutation SNP G C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr16:2817214G>C uc002crk.2 + 11 7234 c.6685G>C c.(6685-6687)GCC>CCC p.A2229P SRRM2_uc002crj.1_Missense_Mutation_p.A2133P|SRRM2_uc002crl.1_Missense_Mutation_p.A2229P|SRRM2_uc010bsu.1_Missense_Mutation_p.A2133P NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2229 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 AGCCAACCTTGCCAGCAGGAT 0.612 DNAH3 55567 broad.mit.edu 37 16 21033373 21033373 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr16:21033373C>T uc010vbe.1 - 40 5696 c.5696G>A c.(5695-5697)CGC>CAC p.R1899H NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1899 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ACAATGAAGGCGACCAAATTC 0.458 POLR2A 5430 broad.mit.edu 37 17 7404279 7404279 + Silent SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:7404279G>A uc002ghf.3 + 12 2136 c.1902G>A c.(1900-1902)GAG>GAA p.E634E NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 634 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) agaatggggagctgatcatgg 0.393 TP53 7157 broad.mit.edu 37 17 7578541 7578541 + Missense_Mutation SNP A G G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:7578541A>G uc002gim.2 - 5 583 c.389T>C c.(388-390)CTC>CCC p.L130P TP53_uc002gig.1_Missense_Mutation_p.L130P|TP53_uc002gih.2_Missense_Mutation_p.L130P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130P|TP53_uc010cni.1_Missense_Mutation_p.L130P|TP53_uc002gij.2_Missense_Mutation_p.L130P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37P|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 130 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.N131fs*27(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.L130fs*40(1)|p.S127fs*36(1)|p.L130del(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATCTTGTTGAGGGCAGGGGA 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) C17orf39 79018 broad.mit.edu 37 17 17943061 17943061 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:17943061G>A uc002gsg.1 + 1 451 c.283G>A c.(283-285)GGT>AGT p.G95S ATPAF2_uc002gsd.1_5'Flank|ATPAF2_uc002gse.1_5'Flank|ATPAF2_uc002gsf.1_5'Flank|ATPAF2_uc010vxf.1_5'Flank NM_024052 NP_076957 Q8IVV7 CQ039_HUMAN hypothetical protein LOC79018 95 Pro-rich. skin(1) 1 all_neural(463;0.228) CCCGCCGGCCGGTGCCTCCGC 0.766 KCNJ12 3768 broad.mit.edu 37 17 21319772 21319772 + Missense_Mutation SNP A T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:21319772A>T uc002gyv.1 + 3 1823 c.1118A>T c.(1117-1119)AAC>ATC p.N373I NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 373 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CCCAGCGCCAACTCCTTCTGC 0.622 Prostate(3;0.18) ACACA 31 broad.mit.edu 37 17 35614745 35614745 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:35614745C>T uc002hnm.2 - 14 1786 c.1595G>A c.(1594-1596)CGC>CAC p.R532H ACACA_uc002hnk.2_Missense_Mutation_p.R454H|ACACA_uc002hnl.2_Missense_Mutation_p.R474H|ACACA_uc002hnn.2_Missense_Mutation_p.R532H|ACACA_uc002hno.2_Missense_Mutation_p.R569H|ACACA_uc010cuz.2_Missense_Mutation_p.R532H NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 532 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTTATTGCTGCGGAAATTTAG 0.413 KRT33A 3883 broad.mit.edu 37 17 39503142 39503142 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:39503142C>T uc002hwk.1 - 5 867 c.830G>A c.(829-831)CGC>CAC p.R277H NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 277 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) ATTGACCGTGCGTCTCAGCTC 0.582 JUP 3728 broad.mit.edu 37 17 39681243 39681243 + Missense_Mutation SNP G A A rs138005000 byFrequency TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:39681243G>A uc010wfs.1 - 6 1009 c.1001C>T c.(1000-1002)ACG>ATG p.T334M KRT19_uc002hxd.3_Missense_Mutation_p.T171M NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin Error:Variant_position_missing_in_P14923_after_alignment adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) AGCCTGTTCCGTCTCAAACCT 0.587 EPN3 55040 broad.mit.edu 37 17 48614388 48614388 + Silent SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:48614388G>A uc002ira.3 + 2 906 c.471G>A c.(469-471)GAG>GAA p.E157E EPN3_uc010wms.1_Silent_p.E212E|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.E157E NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 157 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) TGGCACTGGAGGGCATCGGCA 0.657 APBA3 9546 broad.mit.edu 37 19 3759564 3759564 + Missense_Mutation SNP T C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:3759564T>C uc002lyp.1 - 3 788 c.611A>G c.(610-612)CAG>CGG p.Q204R NM_004886 NP_004877 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, 204 intracellular signal transduction|protein transport intracellular|membrane protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CTCACCCTCCTGGGGGGCAGG 0.632 CLPP 8192 broad.mit.edu 37 19 6366351 6366351 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:6366351C>T uc002mem.1 + 5 761 c.638C>T c.(637-639)ACC>ATC p.T213I CLPP_uc002men.1_Missense_Mutation_p.T15I NM_006012 NP_006003 Q16740 CLPP_HUMAN caseinolytic peptidase, ATP-dependent, 213 proteolysis mitochondrial matrix ATP binding|protein binding|serine-type endopeptidase activity ovary(1) 1 GCCAAGCACACCAAACAGAGC 0.557 VAV1 7409 broad.mit.edu 37 19 6772889 6772889 + Missense_Mutation SNP C A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:6772889C>A uc002mfu.1 + 1 168 c.71C>A c.(70-72)ACC>AAC p.T24N VAV1_uc010xjh.1_Missense_Mutation_p.T24N|VAV1_uc010dva.1_Missense_Mutation_p.T24N NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 24 CH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 CACCGCGTGACCTGGGATGGG 0.662 CYP4F8 11283 broad.mit.edu 37 19 15730340 15730340 + Missense_Mutation SNP T C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:15730340T>C uc002nbi.2 + 4 447 c.383T>C c.(382-384)CTG>CCG p.L128P CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.1_Intron NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 128 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 TACAAGACCCTGAAGCCCTGG 0.537 PSG7 5676 broad.mit.edu 37 19 43433692 43433692 + Missense_Mutation SNP A T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:43433692A>T uc002ovl.3 - 4 713 c.611T>A c.(610-612)CTA>CAA p.L204Q PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_Missense_Mutation_p.L23Q|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.L82Q NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 204 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) GACACCAAATAGGTAGAGGGT 0.522 MYBPC2 4606 broad.mit.edu 37 19 50945481 50945481 + Silent SNP C A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:50945481C>A uc002psf.2 + 9 864 c.813C>A c.(811-813)GGC>GGA p.G271G NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 271 Ig-like C2-type 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TGGACAGAGGCAACAAGATCA 0.522 RNF181 51255 broad.mit.edu 37 2 85824255 85824255 + Missense_Mutation SNP A G G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:85824255A>G uc002spv.1 + 4 406 c.356A>G c.(355-357)GAG>GGG p.E119G NM_016494 NP_057578 Q9P0P0 RN181_HUMAN ring finger protein 181 119 ligase activity|zinc ion binding 0 TGCCGCTATGAGCTGCCCACT 0.522 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:112608394T>C uc002thi.2 - 14 1856 c.1609A>G c.(1609-1611)ACT>GCT p.T537A NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 GGCTTTGGAGTACTAACGCCA 0.433 ANAPC1 64682 broad.mit.edu 37 2 112608407 112608407 + Silent SNP T A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:112608407T>A uc002thi.2 - 14 1843 c.1596A>T c.(1594-1596)CTA>CTT p.L532L NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 532 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 TAACGCCATCTAGTGGAGTAC 0.433 LY75 4065 broad.mit.edu 37 2 160755444 160755444 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:160755444C>T uc002ubc.3 - 2 290 c.221G>A c.(220-222)CGG>CAG p.R74Q LY75_uc002ubb.3_Missense_Mutation_p.R74Q|LY75_uc010fos.2_Missense_Mutation_p.R74Q|LY75_uc010fot.1_Missense_Mutation_p.R74Q NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 74 Extracellular (Potential).|Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) ATGAAAGAGCCGATGCTGGGA 0.493 LRP2 4036 broad.mit.edu 37 2 170090092 170090092 + Missense_Mutation SNP G A A rs140789320 by1000genomes TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:170090092G>A uc002ues.2 - 30 5140 c.4927C>T c.(4927-4929)CGG>TGG p.R1643W NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1643 LDL-receptor class B 13.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TAGGGGTGCCGTATAATCTGT 0.498 TRIP12 9320 broad.mit.edu 37 2 230663714 230663714 + Missense_Mutation SNP A C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:230663714A>C uc002vpw.1 - 22 3243 c.3134T>G c.(3133-3135)TTG>TGG p.L1045W TRIP12_uc002vpx.1_Missense_Mutation_p.L1093W|TRIP12_uc002vpy.1_Missense_Mutation_p.L775W|TRIP12_uc010zlz.1_RNA NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1045 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TTTTGGATTCAAGCTTGCCAG 0.448 TRIP12 9320 broad.mit.edu 37 2 230663734 230663734 + Silent SNP T C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:230663734T>C uc002vpw.1 - 22 3223 c.3114A>G c.(3112-3114)AAA>AAG p.K1038K TRIP12_uc002vpx.1_Silent_p.K1086K|TRIP12_uc002vpy.1_Silent_p.K768K|TRIP12_uc010zlz.1_RNA NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1038 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GGAAAGAAGATTTAGGTGACT 0.398 TRIP12 9320 broad.mit.edu 37 2 230663763 230663763 + Missense_Mutation SNP T C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:230663763T>C uc002vpw.1 - 22 3194 c.3085A>G c.(3085-3087)AAA>GAA p.K1029E TRIP12_uc002vpx.1_Missense_Mutation_p.K1077E|TRIP12_uc002vpy.1_Missense_Mutation_p.K759E|TRIP12_uc010zlz.1_RNA NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1029 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GTGGGGCTTTTAGCTATGAAA 0.343 TGM3 7053 broad.mit.edu 37 20 2298103 2298103 + Missense_Mutation SNP C A A rs147913958 TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr20:2298103C>A uc002wfx.3 + 7 1052 c.955C>A c.(955-957)CCC>ACC p.P319T NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 319 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) CATGGGAAACCCCCTGGACAA 0.507 FAM65C 140876 broad.mit.edu 37 20 49221267 49221267 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr20:49221267C>T uc002xvm.2 - 12 1307 c.989G>A c.(988-990)GGC>GAC p.G330D FAM65C_uc010zyt.1_Missense_Mutation_p.G334D|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.G330D NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 330 ovary(2) 2 AGAAAACTTGCCCGTGGGGCT 0.592 TRPM2 7226 broad.mit.edu 37 21 45789188 45789188 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr21:45789188G>A uc002zet.1 + 6 946 c.733G>A c.(733-735)GGC>AGC p.G245S TRPM2_uc002zeu.1_Missense_Mutation_p.G245S|TRPM2_uc002zew.1_Missense_Mutation_p.G245S|TRPM2_uc010gpt.1_Missense_Mutation_p.G245S|TRPM2_uc002zex.1_Missense_Mutation_p.G31S NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 245 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CGCCACCTGGGGCACTGTCCA 0.667 ZBED4 9889 broad.mit.edu 37 22 50280049 50280049 + Silent SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr22:50280049C>T uc003bix.2 + 2 3209 c.2739C>T c.(2737-2739)TCC>TCT p.S913S NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 913 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ACGAGATGTCCGTCGAGTGTA 0.587 GRIP2 80852 broad.mit.edu 37 3 14558595 14558595 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr3:14558595C>T uc011avi.1 - 12 1577 c.1577G>A c.(1576-1578)CGA>CAA p.R526Q GRIP2_uc011avh.1_Missense_Mutation_p.R57Q NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 428 synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 TTCCCTTCTTCGCTGCCTCCT 0.572 TLR9 54106 broad.mit.edu 37 3 52255367 52255367 + Missense_Mutation SNP G T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr3:52255367G>T uc003dda.1 - 2 3599 c.2965C>A c.(2965-2967)CGC>AGC p.R989S TLR9_uc003ddb.2_Missense_Mutation_p.R1086S NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 989 TIR.|Cytoplasmic (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) ACACTCTGGCGGCAGAGGCGC 0.687 TNIP3 79931 broad.mit.edu 37 4 122075742 122075742 + Missense_Mutation SNP C G G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr4:122075742C>G uc010ing.2 - 5 652 c.456G>C c.(454-456)AAG>AAC p.K152N TNIP3_uc010inh.2_Missense_Mutation_p.K152N|TNIP3_uc011cgj.1_Missense_Mutation_p.K210N|TNIP3_uc010ini.2_Missense_Mutation_p.K152N NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 152 Potential. ovary(1) 1 CGTAATGTTCCTTTTCCTTGT 0.343 BRD9 65980 broad.mit.edu 37 5 865623 865623 + Missense_Mutation SNP G C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:865623G>C uc003jbq.2 - 15 1766 c.1599C>G c.(1597-1599)GAC>GAG p.D533E BRD9_uc003jbl.2_Missense_Mutation_p.D417E|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.D480E|BRD9_uc003jbo.2_Missense_Mutation_p.D437E NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN bromodomain containing 9 isoform 1 533 nucleic acid binding 0 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CTTCGTGCAGGTCCTGCAGGA 0.617 MARVELD2 153562 broad.mit.edu 37 5 68728420 68728420 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:68728420G>A uc003jwq.2 + 4 1308 c.1249G>A c.(1249-1251)GCA>ACA p.A417T MARVELD2_uc010ixf.2_Missense_Mutation_p.A405T|MARVELD2_uc003jwr.1_Missense_Mutation_p.A417T|MARVELD2_uc003jws.1_RNA NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 isoform 1 417 Cytoplasmic (Potential). sensory perception of sound integral to membrane|tight junction 0 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) ACTGAGAACAGCAAAAATGAA 0.448 SLCO6A1 133482 broad.mit.edu 37 5 101816005 101816005 + Missense_Mutation SNP G T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:101816005G>T uc003knn.2 - 2 664 c.492C>A c.(490-492)TTC>TTA p.F164L SLCO6A1_uc003kno.2_Missense_Mutation_p.F164L|SLCO6A1_uc003knp.2_Missense_Mutation_p.F164L|SLCO6A1_uc003knq.2_Missense_Mutation_p.F164L NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 164 Helical; Name=2; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TGTCTCCATAGAATGCTATAA 0.338 CHSY3 337876 broad.mit.edu 37 5 129519964 129519964 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:129519964G>A uc003kvd.2 + 3 1129 c.1129G>A c.(1129-1131)GGT>AGT p.G377S NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 377 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CAATCGGAAGGGTTACATCCA 0.338 FBXO38 81545 broad.mit.edu 37 5 147784293 147784293 + Missense_Mutation SNP T G G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:147784293T>G uc003lpf.1 + 6 758 c.638T>G c.(637-639)CTT>CGT p.L213R FBXO38_uc003lpg.1_Missense_Mutation_p.L213R|FBXO38_uc003lph.2_Missense_Mutation_p.L213R NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 213 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAAGGCACCTTTATATGAAG 0.348 SLIT3 6586 broad.mit.edu 37 5 168212916 168212916 + Silent SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:168212916G>A uc003mab.2 - 12 1567 c.1147C>T c.(1147-1149)CTG>TTG p.L383L SLIT3_uc010jjg.2_Silent_p.L383L|SLIT3_uc010jji.2_Silent_p.L383L|SLIT3_uc003mac.1_Silent_p.L180L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 383 LRR 10. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTCACAGCAGCTGTAGGGAC 0.493 NSD1 64324 broad.mit.edu 37 5 176638305 176638305 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:176638305G>A uc003mfr.3 + 5 3043 c.2905G>A c.(2905-2907)GGA>AGA p.G969R NSD1_uc003mft.3_Missense_Mutation_p.G700R|NSD1_uc003mfs.1_Missense_Mutation_p.G866R|NSD1_uc011dfx.1_Missense_Mutation_p.G617R NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 969 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGAGAAAAAGGGAGATGGCAC 0.512 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) PNPLA1 285848 broad.mit.edu 37 6 36259268 36259268 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr6:36259268G>A uc010jwf.2 + 2 377 c.377G>A c.(376-378)CGC>CAC p.R126H PNPLA1_uc003olw.1_Missense_Mutation_p.R31H|PNPLA1_uc010jwe.1_Missense_Mutation_p.R31H NM_001145717 NP_001139189 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 126 Patatin. lipid catabolic process hydrolase activity large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 AGCCTCACCCGCTTAACGGAC 0.602 PRICKLE4 29964 broad.mit.edu 37 6 41753983 41753983 + Missense_Mutation SNP A G G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr6:41753983A>G uc011duf.1 + 7 948 c.700A>G c.(700-702)AGC>GGC p.S234G PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank NM_013397 NP_037529 Q2TBC4 PRIC4_HUMAN over-expressed breast tumor protein 194 LIM zinc-binding 2. nucleus zinc ion binding 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCTGGGGGAAGCCCCTGCTG 0.672 TIAM2 26230 broad.mit.edu 37 6 155572049 155572049 + Silent SNP A C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr6:155572049A>C uc003qqb.2 + 24 5227 c.3954A>C c.(3952-3954)GTA>GTC p.V1318V TIAM2_uc003qqe.2_Silent_p.V1318V|TIAM2_uc010kjj.2_Silent_p.V880V|TIAM2_uc003qqf.2_Silent_p.V694V|TIAM2_uc011efl.1_Silent_p.V654V|TIAM2_uc003qqg.2_Silent_p.V630V|TIAM2_uc003qqh.2_Silent_p.V243V NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1318 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CAATCTAGGTAACAGAACTTT 0.423 HECW1 23072 broad.mit.edu 37 7 43485067 43485067 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:43485067G>A uc003tid.1 + 11 2901 c.2296G>A c.(2296-2298)GCT>ACT p.A766T HECW1_uc011kbi.1_Missense_Mutation_p.A766T NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 766 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CACGAACGGCGCTGGGCCGTG 0.652 ZPBP 11055 broad.mit.edu 37 7 50121433 50121433 + Nonsense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:50121433G>A uc003tou.2 - 3 341 c.271C>T c.(271-273)CGA>TGA p.R91* ZPBP_uc011kci.1_Nonsense_Mutation_p.R17*|ZPBP_uc010kyw.2_Nonsense_Mutation_p.R91* NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 91 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TCAGCATTTCGCAGTTGTTGC 0.338 EGFR 1956 broad.mit.edu 37 7 55221710 55221710 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:55221710C>T uc003tqk.2 + 7 1000 c.754C>T c.(754-756)CGC>TGC p.R252C EGFR_uc003tqh.2_Missense_Mutation_p.R252C|EGFR_uc003tqi.2_Missense_Mutation_p.R252C|EGFR_uc003tqj.2_Missense_Mutation_p.R252C|EGFR_uc010kzg.1_Missense_Mutation_p.R207C|EGFR_uc011kco.1_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 252 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.R252C(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATAGGTCTGCCGCAAATTCCG 0.582 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) CCDC146 57639 broad.mit.edu 37 7 76922321 76922321 + Missense_Mutation SNP T C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:76922321T>C uc003uga.2 + 18 2595 c.2468T>C c.(2467-2469)CTT>CCT p.L823P CCDC146_uc010ldp.2_Missense_Mutation_p.L537P|CCDC146_uc003ugc.2_Missense_Mutation_p.L160P NM_020879 NP_065930 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 823 Potential. ovary(1)|central_nervous_system(1) 2 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) ATGATGGCTCTTGTTGCTGAG 0.398 PCLO 27445 broad.mit.edu 37 7 82387898 82387898 + Missense_Mutation SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:82387898G>A uc003uhx.2 - 25 15711 c.15422C>T c.(15421-15423)ACG>ATG p.T5141M NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 5064 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCTTCAATGCGTTTGAGTAGG 0.378 SLC26A3 1811 broad.mit.edu 37 7 107427951 107427951 + Missense_Mutation SNP G C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:107427951G>C uc003ver.2 - 7 950 c.739C>G c.(739-741)CTA>GTA p.L247V SLC26A3_uc003ves.2_Missense_Mutation_p.L212V NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 247 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 ACAGAGTATAGTACCTACAAT 0.323 KEL 3792 broad.mit.edu 37 7 142649696 142649696 + Missense_Mutation SNP C A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:142649696C>A uc003wcb.2 - 10 1313 c.1103G>T c.(1102-1104)GGG>GTG p.G368V NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 368 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) CACCACCAGCCCTAAGATCAT 0.537 KCNH2 3757 broad.mit.edu 37 7 150649545 150649545 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:150649545C>T uc003wic.2 - 6 1538 c.1525G>A c.(1525-1527)GAC>AAC p.D509N KCNH2_uc003wib.2_Missense_Mutation_p.D169N|KCNH2_uc011kux.1_Missense_Mutation_p.D413N|KCNH2_uc003wid.2_Missense_Mutation_p.D169N|KCNH2_uc003wie.2_Missense_Mutation_p.D509N NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 509 Helical; Name=Segment S3; (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) ATGAGCAGGTCGAAGGGGATG 0.632 CYP7B1 9420 broad.mit.edu 37 8 65517309 65517309 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr8:65517309C>T uc003xvj.2 - 5 1367 c.1163G>A c.(1162-1164)CGA>CAA p.R388Q NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 388 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GTCTCCCTTTCGCACACAGTA 0.453 RIMS2 9699 broad.mit.edu 37 8 104922392 104922392 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr8:104922392C>T uc003yls.2 + 3 1230 c.989C>T c.(988-990)ACG>ATG p.T330M RIMS2_uc003ylp.2_Missense_Mutation_p.T552M|RIMS2_uc003ylw.2_Missense_Mutation_p.T360M|RIMS2_uc003ylq.2_Missense_Mutation_p.T360M|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TTGGATCATACGTCTTGGCAT 0.388 HNSCC(12;0.0054) CSMD3 114788 broad.mit.edu 37 8 113988286 113988286 + Silent SNP A T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr8:113988286A>T uc003ynu.2 - 7 1281 c.1122T>A c.(1120-1122)CCT>CCA p.P374P CSMD3_uc003ynt.2_Silent_p.P334P|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 374 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TAACATCTGCAGGTGTGCTAG 0.493 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) COL14A1 7373 broad.mit.edu 37 8 121326264 121326264 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr8:121326264C>T uc003yox.2 + 38 4814 c.4549C>T c.(4549-4551)CCC>TCC p.P1517S COL14A1_uc003yoz.2_Missense_Mutation_p.P482S NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1517 Triple-helical region 1 (COL2). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCAAGGAATGCCCGTGAGTTG 0.468 CXorf23 256643 broad.mit.edu 37 X 19968952 19968952 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:19968952C>T uc004czp.2 - 7 1664 c.1664G>A c.(1663-1665)CGA>CAA p.R555Q CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.R120Q|CXorf23_uc004czo.2_Missense_Mutation_p.R505Q NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 555 mitochondrion lung(1)|skin(1) 2 AATGTCATGTCGTAGGTCATT 0.368 OPHN1 4983 broad.mit.edu 37 X 67421527 67421527 + Missense_Mutation SNP T C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:67421527T>C uc004dww.3 - 11 1253 c.959A>G c.(958-960)TAC>TGC p.Y320C OPHN1_uc011mpg.1_Missense_Mutation_p.Y320C NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 320 PH. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 TCTCACACAGTACTTCAGTGT 0.418 LPAR4 2846 broad.mit.edu 37 X 78011289 78011289 + Missense_Mutation SNP C A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:78011289C>A uc010nme.2 + 2 1328 c.923C>A c.(922-924)CCT>CAT p.P308H NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 308 Helical; Name=7; (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 TGTTTTGACCCTTTCATCTAT 0.418 POF1B 79983 broad.mit.edu 37 X 84634326 84634326 + Missense_Mutation SNP T C C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:84634326T>C uc004eer.2 - 2 280 c.134A>G c.(133-135)AAA>AGA p.K45R POF1B_uc004ees.2_Missense_Mutation_p.K45R NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 45 actin binding 0 CACTACATTTTTTTCTGGAGG 0.577 GUCY2F 2986 broad.mit.edu 37 X 108673542 108673542 + Silent SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:108673542G>A uc004eod.3 - 8 2061 c.1785C>T c.(1783-1785)TTC>TTT p.F595F GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 595 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 ATACCATTTCGAACACATCAC 0.388 LAMP2 3920 broad.mit.edu 37 X 119565295 119565295 + Silent SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:119565295G>A uc004est.3 - 9 1296 c.1116C>T c.(1114-1116)GAC>GAT p.D372D LAMP2_uc004ess.3_Intron|LAMP2_uc011mtz.1_Intron NM_002294 NP_002285 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 isoform 372 Lumenal (Potential).|Second lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane ovary(1) 1 GGAAGTTGTCGTCATCTGCAC 0.438 GRIA3 2892 broad.mit.edu 37 X 122532507 122532507 + Silent SNP C T T rs148850386 byFrequency TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:122532507C>T uc004etq.3 + 8 1226 c.933C>T c.(931-933)CAC>CAT p.H311H GRIA3_uc004etr.3_Silent_p.H311H|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.H295H NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 311 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) CATTGACACACGACGCAATAC 0.423 SMARCA1 6594 broad.mit.edu 37 X 128657225 128657225 + Silent SNP G A A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:128657225G>A uc004eun.3 - 1 236 c.123C>T c.(121-123)GCC>GCT p.A41A SMARCA1_uc004eup.3_Silent_p.A41A|SMARCA1_uc011muk.1_Silent_p.A41A|SMARCA1_uc011mul.1_Silent_p.A41A NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 41 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 CGGTGGCCGCGGCGGCCGCTC 0.667 ZNF280C 55609 broad.mit.edu 37 X 129370597 129370598 + Frame_Shift_Del DEL TG - - TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:129370597_129370598delTG uc004evm.2 - 7 663_664 c.509_510delCA c.(508-510)TCAfs p.S170fs ZNF280C_uc010nrf.1_Frame_Shift_Del_p.S170fs NM_017666 NP_060136 Q8ND82 Z280C_HUMAN zinc finger protein 280C 170 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1) 3 TCAACACATATGAAGTATTTTT 0.312 MAGEC1 9947 broad.mit.edu 37 X 140995644 140995644 + Silent SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:140995644C>T uc004fbt.2 + 4 2740 c.2454C>T c.(2452-2454)CCC>CCT p.P818P MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 818 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GCTCCTTCCCCTCCTCCACTT 0.557 HNSCC(15;0.026) AFF2 2334 broad.mit.edu 37 X 148035181 148035181 + Missense_Mutation SNP C T T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:148035181C>T uc004fcp.2 + 10 1948 c.1469C>T c.(1468-1470)TCG>TTG p.S490L AFF2_uc004fcq.2_Missense_Mutation_p.S480L|AFF2_uc004fcr.2_Missense_Mutation_p.S451L|AFF2_uc011mxb.1_Missense_Mutation_p.S455L|AFF2_uc004fcs.2_Missense_Mutation_p.S457L|AFF2_uc011mxc.1_Missense_Mutation_p.S131L NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 490 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TCCAGCGAATCGGAGAGCAGC 0.557