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 MST1P9 11223 broad.mit.edu 37 1 17084066 17084066 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr1:17084066G>A uc010ock.1 - 14 1855 c.1855C>T c.(1855-1857)CGG>TGG p.R619W CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Missense_Mutation_p.R219W NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 TCGCTCTCCCGCACATGTCCT 0.602 KIAA0467 23334 broad.mit.edu 37 1 43906999 43906999 + Missense_Mutation SNP C T T rs150927632 TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr1:43906999C>T uc001cjk.1 + 38 5224 c.4762C>T c.(4762-4764)CCT>TCT p.P1588S NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2487 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGTTCGGACTCCTGGTGGAGC 0.582 CYP4A11 1579 broad.mit.edu 37 1 47400170 47400170 + Missense_Mutation SNP C G G TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr1:47400170C>G uc001cqp.3 - 7 903 c.852G>C c.(850-852)AAG>AAC p.K284N CYP4A11_uc001cqq.2_Missense_Mutation_p.K284N|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 284 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) GCCTCTTCCTCTTGATCTTCT 0.498 C1orf175 374977 broad.mit.edu 37 1 55136211 55136211 + Silent SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr1:55136211C>T uc010ooe.1 + 6 1755 c.1431C>T c.(1429-1431)TCC>TCT p.S477S C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.S45S|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_5'UTR|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.S477S|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 477 integral to membrane binding 0 TCTCAAGCTCCGTCCGCAAGC 0.473 CSDE1 7812 broad.mit.edu 37 1 115269683 115269683 + Missense_Mutation SNP T C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr1:115269683T>C uc001efk.2 - 13 1851 c.1385A>G c.(1384-1386)GAT>GGT p.D462G CSDE1_uc001efi.2_Missense_Mutation_p.D508G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.D431G|CSDE1_uc001efm.2_Missense_Mutation_p.D477G|CSDE1_uc009wgv.2_Missense_Mutation_p.D462G|CSDE1_uc001efn.2_Missense_Mutation_p.D431G NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 462 CSD 6. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCACAGTCATCATAAGCAAT 0.373 TCHH 7062 broad.mit.edu 37 1 152084091 152084091 + Silent SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr1:152084091G>A uc001ezp.2 - 2 1602 c.1602C>T c.(1600-1602)AGC>AGT p.S534S TCHH_uc009wne.1_Silent_p.S534S NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 534 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGTTGCTCGCTCCTCAACC 0.652 OR10Z1 128368 broad.mit.edu 37 1 158577031 158577032 + Frame_Shift_Del DEL TT - - TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr1:158577031_158577032delTT uc010pio.1 + 1 803_804 c.803_804delTT c.(802-804)CTTfs p.L268fs NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) AGCTACTCTCTTGAGAGAGATC 0.470 LGR6 59352 broad.mit.edu 37 1 202287327 202287327 + Silent SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr1:202287327C>T uc001gxu.2 + 18 1896 c.1896C>T c.(1894-1896)TAC>TAT p.Y632Y LGR6_uc001gxv.2_Silent_p.Y580Y|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.Y493Y NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 632 Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 TCTCTGAGTACGGAGCCCGCT 0.622 OR1C1 26188 broad.mit.edu 37 1 247921487 247921487 + Silent SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr1:247921487C>T uc010pza.1 - 1 222 c.222G>A c.(220-222)ACG>ACA p.T74T NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CTGTAGTCGACGTAAAGCAGA 0.463 C10orf2 56652 broad.mit.edu 37 10 102749558 102749558 + Silent SNP A G G TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr10:102749558A>G uc001ksf.2 + 2 2076 c.1401A>G c.(1399-1401)CAA>CAG p.Q467Q MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Silent_p.Q467Q|C10orf2_uc001ksi.2_Silent_p.Q13Q|C10orf2_uc010qpv.1_Silent_p.Q13Q|C10orf2_uc001ksh.2_RNA NM_021830 NP_068602 Q96RR1 PEO1_HUMAN twinkle isoform A 467 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding ovary(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) TGGAAGATCAACTGGACAAAT 0.542 OR56A4 120793 broad.mit.edu 37 11 6024337 6024337 + Silent SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr11:6024337C>T uc010qzv.1 - 1 42 c.42G>A c.(40-42)CAG>CAA p.Q14Q NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, Error:Variant_position_missing_in_Q8NGH8_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACTGAGGCCCTGTATCTGTC 0.299 OR4P4 81300 broad.mit.edu 37 11 55406071 55406071 + Missense_Mutation SNP A G G TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr11:55406071A>G uc010rij.1 + 1 238 c.238A>G c.(238-240)ATG>GTG p.M80V NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 CCCCAAATTAATGGTTGACTT 0.413 GLYATL1 92292 broad.mit.edu 37 11 58723260 58723260 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr11:58723260G>A uc001nnf.2 + 8 1045 c.669G>A c.(667-669)ATG>ATA p.M223I uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.M254I|GLYATL1_uc001nni.1_Missense_Mutation_p.M223I|GLYATL1_uc001nnj.1_Missense_Mutation_p.M223I Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 223 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) GGGTAACCATGGACCCTTCTT 0.522 TRPC6 7225 broad.mit.edu 37 11 101347101 101347101 + Missense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr11:101347101C>T uc001pgk.3 - 6 2100 c.1675G>A c.(1675-1677)GAC>AAC p.D559N TRPC6_uc009ywy.2_Missense_Mutation_p.D443N|TRPC6_uc009ywz.1_Missense_Mutation_p.D504N NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 559 Extracellular (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TCATTTGCGTCAATGATGCTC 0.378 USP28 57646 broad.mit.edu 37 11 113677209 113677209 + Splice_Site SNP A G G TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr11:113677209A>G uc001poh.2 - 19 2433 c.2400_splice c.e19+1 p.K800_splice USP28_uc001pog.2_Intron|USP28_uc010rwy.1_Intron|USP28_uc001poi.2_Intron NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AAACAGAGATACCTTAATCAG 0.398 LRP6 4040 broad.mit.edu 37 12 12311913 12311913 + Missense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr12:12311913C>T uc001rah.3 - 12 2783 c.2641G>A c.(2641-2643)GTC>ATC p.V881I BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.V881I NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 881 Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 15. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding p.V881L(1) lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) GAGTGAAAGACGAGGATGTCC 0.537 OVCH1 341350 broad.mit.edu 37 12 29628100 29628100 + Silent SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr12:29628100G>A uc001rix.1 - 14 1494 c.1494C>T c.(1492-1494)ACC>ACT p.T498T NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 498 CUB 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TTGAAGTGATGGTCAACATTC 0.299 LRP1 4035 broad.mit.edu 37 12 57600507 57600507 + Missense_Mutation SNP G T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr12:57600507G>T uc001snd.2 + 76 12308 c.11842G>T c.(11842-11844)GGT>TGT p.G3948C NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3948 Extracellular (Potential).|LDL-receptor class B 31. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GATTGACCGGGGTGTCACCCA 0.607 GRIP1 23426 broad.mit.edu 37 12 66911726 66911726 + Missense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr12:66911726C>T uc001stk.2 - 6 774 c.533G>A c.(532-534)CGT>CAT p.R178H GRIP1_uc010sta.1_Missense_Mutation_p.R122H|GRIP1_uc001stl.1_Missense_Mutation_p.R122H|GRIP1_uc001stm.2_Missense_Mutation_p.R178H NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 178 PDZ 2. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CACAACTGGACGAGATTTATT 0.388 METT11D1 64745 broad.mit.edu 37 14 21458199 21458199 + Missense_Mutation SNP G C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr14:21458199G>C uc001vyn.2 + 1 235 c.38G>C c.(37-39)AGA>ACA p.R13T METT11D1_uc010tlk.1_Missense_Mutation_p.R13T|METT11D1_uc001vym.2_Missense_Mutation_p.R13T|METT11D1_uc001vyo.2_Missense_Mutation_p.R13T|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR NM_022734 NP_073571 Q9H7H0 MET17_HUMAN methyltransferase 11 domain containing 1 isoform 13 translation mitochondrion|ribosome copper ion binding|methyltransferase activity 0 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0191) ACATTAGGAAGATGGTGCCCC 0.617 METT11D1 64745 broad.mit.edu 37 14 21458453 21458453 + Missense_Mutation SNP G C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr14:21458453G>C uc001vyn.2 + 2 337 c.140G>C c.(139-141)AGG>ACG p.R47T METT11D1_uc010tlk.1_Missense_Mutation_p.R47T|METT11D1_uc001vym.2_Missense_Mutation_p.R47T|METT11D1_uc001vyo.2_Missense_Mutation_p.R47T|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR NM_022734 NP_073571 Q9H7H0 MET17_HUMAN methyltransferase 11 domain containing 1 isoform 47 translation mitochondrion|ribosome copper ion binding|methyltransferase activity 0 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0191) CTGCAGAAGAGGCCTCATCGC 0.587 OREG0022561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GNG2 54331 broad.mit.edu 37 14 52433353 52433353 + Missense_Mutation SNP C T T rs139067662 by1000genomes TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr14:52433353C>T uc001wzi.2 + 4 693 c.164C>T c.(163-165)CCG>CTG p.P55L GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.P55L NM_053064 NP_444292 P59768 GBG2_HUMAN guanine nucleotide binding protein (G protein), 55 cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission heterotrimeric G-protein complex protein binding|signal transducer activity 0 all_epithelial(31;0.0659)|Breast(41;0.0684) Halothane(DB01159) ACCCCTGTTCCGGCTTCAGAA 0.527 LTBP2 4053 broad.mit.edu 37 14 74970199 74970199 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr14:74970199G>A uc001xqa.2 - 32 5080 c.4693C>T c.(4693-4695)CGC>TGC p.R1565C NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1565 EGF-like 18; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TTCATGCAGCGCTGCTGGCTG 0.672 PSMC1 5700 broad.mit.edu 37 14 90736610 90736610 + Missense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr14:90736610C>T uc001xyf.2 + 10 1150 c.1102C>T c.(1102-1104)CAC>TAC p.H368Y PSMC1_uc001xyg.2_Missense_Mutation_p.H295Y|PSMC1_uc001xyh.2_Missense_Mutation_p.H295Y NM_002802 NP_002793 P62191 PRS4_HUMAN proteasome 26S ATPase subunit 1 368 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 all_cancers(154;0.142) COAD - Colon adenocarcinoma(157;0.21) CTTTCAGATTCACACAAGCAG 0.502 SERPINA3 12 broad.mit.edu 37 14 95080911 95080911 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr14:95080911G>A uc001ydp.2 + 2 212 c.133G>A c.(133-135)GTG>ATG p.V45M SERPINA3_uc001ydo.3_Missense_Mutation_p.V70M|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.V45M|SERPINA3_uc001yds.2_Missense_Mutation_p.V45M|SERPINA3_uc010avg.2_Missense_Mutation_p.V45M NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 45 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity p.V45M(1) ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AGGGACACACGTGGACCTCGG 0.572 BCL11B 64919 broad.mit.edu 37 14 99642475 99642475 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr14:99642475G>A uc001yga.2 - 4 965 c.698C>T c.(697-699)GCG>GTG p.A233V BCL11B_uc001ygb.2_Missense_Mutation_p.A162V NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 233 C2H2-type 1. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CAGGAACCACGCGCTGTTGAA 0.617 T TLX3 T-ALL HDC 3067 broad.mit.edu 37 15 50535347 50535347 + Missense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr15:50535347C>T uc001zxz.2 - 11 1341 c.1235G>A c.(1234-1236)CGT>CAT p.R412H HDC_uc001zxy.2_Missense_Mutation_p.R155H|HDC_uc010uff.1_Missense_Mutation_p.R379H NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 412 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TACCTTTAGACGAAAAACCAC 0.483 CP110 9738 broad.mit.edu 37 16 19547973 19547973 + Nonsense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr16:19547973C>T uc002dgl.3 + 4 1229 c.982C>T c.(982-984)CGA>TGA p.R328* CP110_uc002dgk.3_Nonsense_Mutation_p.R328* O43303 CP110_HUMAN RecName: Full=Centrosomal protein of 110 kDa; Short=Cep110; 328 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding 0 CATACCTATACGAACTGGCCA 0.373 CACNG3 10368 broad.mit.edu 37 16 24358110 24358110 + Silent SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr16:24358110C>T uc002dmf.2 + 2 1467 c.267C>T c.(265-267)TAC>TAT p.Y89Y NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 89 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) ATGCTGACTACGAACAGGACA 0.562 OGFOD1 55239 broad.mit.edu 37 16 56510097 56510097 + Missense_Mutation SNP T C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr16:56510097T>C uc002ejb.2 + 13 1710 c.1609T>C c.(1609-1611)TCA>CCA p.S537P OGFOD1_uc002ejc.2_Missense_Mutation_p.S397P NM_018233 NP_060703 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase 537 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1) 1 Vitamin C(DB00126) CTGGGACTTTTCATTCATCTA 0.418 MYH2 4620 broad.mit.edu 37 17 10428349 10428349 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr17:10428349G>A uc010coi.2 - 34 4824 c.4696C>T c.(4696-4698)CGC>TGC p.R1566C uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1566C|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1566 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 AGCTGGATGCGCAGGATCTTT 0.408 XYLT2 64132 broad.mit.edu 37 17 48433460 48433460 + Silent SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr17:48433460G>A uc002iqo.2 + 7 1429 c.1320G>A c.(1318-1320)ACG>ACA p.T440T XYLT2_uc010dbo.2_RNA NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 440 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) TCTTCCACACGGTGCTGGAGA 0.617 VEZF1 7716 broad.mit.edu 37 17 56060219 56060219 + Missense_Mutation SNP T C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr17:56060219T>C uc002ivf.1 - 2 712 c.569A>G c.(568-570)AAT>AGT p.N190S VEZF1_uc010dcn.1_Missense_Mutation_p.N34S NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 190 C2H2-type 2. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 CTTGTGTCGATTGAGATGGTA 0.483 QRICH2 84074 broad.mit.edu 37 17 74276228 74276228 + Missense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr17:74276228C>T uc002jrd.1 - 12 4316 c.4136G>A c.(4135-4137)CGC>CAC p.R1379H QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Missense_Mutation_p.R223H NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1379 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 CAGCTCCAGGCGGTCCAGCTG 0.657 DSG3 1830 broad.mit.edu 37 18 29038537 29038537 + Missense_Mutation SNP G A A rs137884016 byFrequency TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr18:29038537G>A uc002kws.2 + 4 455 c.346G>A c.(346-348)GAC>AAC p.D116N NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 116 Extracellular (Potential).|Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGCTATAGTCGACCGGGAGGA 0.443 ALPK2 115701 broad.mit.edu 37 18 56203942 56203942 + Silent SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr18:56203942C>T uc002lhj.3 - 5 3691 c.3477G>A c.(3475-3477)ACG>ACA p.T1159T ALPK2_uc002lhk.1_Silent_p.T490T NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1159 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CAGCAGATGTCGTAGGCAAAC 0.567 MAP2K7 5609 broad.mit.edu 37 19 7975352 7975352 + Silent SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr19:7975352C>T uc002mit.2 + 5 527 c.462C>T c.(460-462)TCC>TCT p.S154S MAP2K7_uc002miv.2_Silent_p.S154S|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Silent_p.S154S|MAP2K7_uc010dvv.2_Silent_p.S29S NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 154 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) TGCGGCGCTCCGGGAACAAGG 0.632 MUC16 94025 broad.mit.edu 37 19 9047027 9047027 + Missense_Mutation SNP G A A rs111231164 TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr19:9047027G>A uc002mkp.2 - 5 34808 c.34604C>T c.(34603-34605)ACG>ATG p.T11535M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11537 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GATAGTTGTCGTTGAAACAGC 0.512 MRPS12 6183 broad.mit.edu 37 19 39423173 39423173 + Missense_Mutation SNP C T T rs140018981 by1000genomes TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr19:39423173C>T uc002okc.2 + 3 560 c.250C>T c.(250-252)CGG>TGG p.R84W SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc002okb.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.2_Missense_Mutation_p.R84W|MRPS12_uc002oke.2_Missense_Mutation_p.R84W NM_033362 NP_203526 O15235 RT12_HUMAN mitochondrial ribosomal protein S12 precursor 84 translation mitochondrial ribosome|small ribosomal subunit protein binding|structural constituent of ribosome 0 all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CTGTCGAGTGCGGCTCAGCAC 0.662 ZNF546 339327 broad.mit.edu 37 19 40520966 40520969 + Frame_Shift_Del DEL ACTC - - TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr19:40520966_40520969delACTC uc002oms.2 + 7 2045_2048 c.1789_1792delACTC c.(1789-1794)ACTCAAfs p.T597fs ZNF546_uc002omt.2_Frame_Shift_Del_p.T571fs NM_178544 NP_848639 Q86UE3 ZN546_HUMAN zinc finger protein 546 597_598 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTATAATCTTACTCAACATTTTAA 0.353 PSG5 5673 broad.mit.edu 37 19 43689122 43689122 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr19:43689122G>A uc002ovu.2 - 2 373 c.242C>T c.(241-243)TCA>TTA p.S81L PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.S9L|PSG5_uc002ovx.2_Missense_Mutation_p.S81L|PSG5_uc002ovv.2_Missense_Mutation_p.S81L|PSG5_uc002ovw.2_Missense_Mutation_p.S81L NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 81 Ig-like V-type. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) TACTACATATGATGTAATGTA 0.433 XRCC1 7515 broad.mit.edu 37 19 44055781 44055781 + Missense_Mutation SNP C T T rs2271980 TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr19:44055781C>T uc002owt.2 - 10 1261 c.1141G>A c.(1141-1143)GTG>ATG p.V381M XRCC1_uc010xwp.1_Missense_Mutation_p.V350M NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 381 BRCT 1. base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) TCCTTACGCACGATGCGGCCT 0.622 Other_BER_factors APOB 338 broad.mit.edu 37 2 21255225 21255225 + Splice_Site DEL C - - TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr2:21255225delC uc002red.2 - 10 1480 c.1352_splice c.e10+1 p.N451_splice NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGAAACTCACTTGTTGACCG 0.537 GLI2 2736 broad.mit.edu 37 2 121747197 121747197 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr2:121747197G>A uc010flp.2 + 13 3737 c.3707G>A c.(3706-3708)GGC>GAC p.G1236D GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.G908D|GLI2_uc002tmu.3_Missense_Mutation_p.G891D NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1236 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CAGTGTCCTGGCATGACTACC 0.652 POTEF 728378 broad.mit.edu 37 2 130877687 130877687 + Missense_Mutation SNP G C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr2:130877687G>C uc010fmh.2 - 3 802 c.402C>G c.(400-402)CAC>CAG p.H134Q NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 134 cell cortex ATP binding skin(3)|ovary(2) 5 CTCCACGGACGTGGTACCTGG 0.592 FAM123C 205147 broad.mit.edu 37 2 131522112 131522112 + Frame_Shift_Del DEL G - - TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr2:131522112delG uc002trw.2 + 2 2657 c.2467delG c.(2467-2469)GGGfs p.G823fs FAM123C_uc010fmv.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G823fs NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 823 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CCAGCAGGAAGGGGGGGTCTC 0.677 KCNJ3 3760 broad.mit.edu 37 2 155711294 155711294 + Silent SNP T C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr2:155711294T>C uc002tyv.1 + 3 1170 c.975T>C c.(973-975)CAT>CAC p.H325H KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 325 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) TTTGGGGTCATCGTTTTTTTC 0.383 UPP2 151531 broad.mit.edu 37 2 158971751 158971751 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr2:158971751G>A uc002tzp.2 + 3 513 c.319G>A c.(319-321)GGG>AGG p.G107R UPP2_uc002tzo.2_Missense_Mutation_p.G164R NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 107 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 GTACAAAACCGGGCCTGTGCT 0.438 ITGB6 3694 broad.mit.edu 37 2 160964323 160964323 + Missense_Mutation SNP A G G TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr2:160964323A>G uc002ubh.2 - 14 2151 c.2135T>C c.(2134-2136)ATG>ACG p.M712T ITGB6_uc010fou.2_Missense_Mutation_p.M712T|ITGB6_uc010zcq.1_Missense_Mutation_p.M670T|ITGB6_uc010fov.1_Missense_Mutation_p.M712T NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 712 Helical; (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 AACCCCTAACATGATCATGGG 0.403 TTN 7273 broad.mit.edu 37 2 179431071 179431071 + Silent SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr2:179431071G>A uc010zfg.1 - 275 72308 c.72084C>T c.(72082-72084)TCC>TCT p.S24028S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S17723S|TTN_uc010zfi.1_Silent_p.S17656S|TTN_uc010zfj.1_Silent_p.S17531S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24955 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) TTCTTAATTCGGAGTCAAGGT 0.453 UGT1A1 54658 broad.mit.edu 37 2 234669059 234669059 + Silent SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr2:234669059C>T uc002vvb.2 + 1 141 c.126C>T c.(124-126)AGC>AGT p.S42S UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.S42S NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 42 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) ACTGGCTGAGCATGCTTGGGG 0.577 UGT1A1 54658 broad.mit.edu 37 2 234669074 234669074 + Silent SNP C T T rs34526305 byFrequency TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr2:234669074C>T uc002vvb.2 + 1 156 c.141C>T c.(139-141)ATC>ATT p.I47I UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.I47I NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 47 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TTGGGGCCATCCAGCAGCTGC 0.567 BPIL1 80341 broad.mit.edu 37 20 31606076 31606076 + Missense_Mutation SNP G A A rs147688509 byFrequency TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr20:31606076G>A uc002wyj.2 + 8 783 c.589G>A c.(589-591)GTG>ATG p.V197M NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 197 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 CCTCAACCCCGTGGGTCCTGA 0.483 PIGU 128869 broad.mit.edu 37 20 33169458 33169460 + In_Frame_Del DEL GAA - - TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr20:33169458_33169460delGAA uc002xas.2 - 10 1143_1145 c.943_945delTTC c.(943-945)TTCdel p.F315del PIGU_uc010zul.1_In_Frame_Del_p.F315del|PIGU_uc002xat.2_In_Frame_Del_p.F295del NM_080476 NP_536724 Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, 315 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane 0 GGATAAACATGAAGAAGATGGGG 0.562 RBM38 55544 broad.mit.edu 37 20 55968365 55968365 + Missense_Mutation SNP C G G TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr20:55968365C>G uc010zzj.1 + 3 567 c.392C>G c.(391-393)CCC>CGC p.P131R RBM38_uc010zzk.1_Intron NM_017495 NP_059965 Q9H0Z9 RBM38_HUMAN RNA-binding region containing protein 1 isoform 131 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|cytosol|nucleus|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding 0 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) CAGCTGCACCCCACCTTGATC 0.597 KRTAP19-4 337971 broad.mit.edu 37 21 31869311 31869311 + Missense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr21:31869311C>T uc011acz.1 - 1 118 c.118G>A c.(118-120)GGC>AGC p.G40S NM_181610 NP_853641 Q3LI73 KR194_HUMAN keratin associated protein 19-4 40 intermediate filament ovary(2) 2 CCTCCAAAGCCACAGCCATAA 0.527 COL7A1 1294 broad.mit.edu 37 3 48629808 48629808 + Missense_Mutation SNP G A A rs146041612 TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr3:48629808G>A uc003ctz.2 - 8 1070 c.1069C>T c.(1069-1071)CGT>TGT p.R357C NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 357 Nonhelical region (NC1).|Fibronectin type-III 2. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CATGTCACACGGTAGCCAGTG 0.637 IFT57 55081 broad.mit.edu 37 3 107938379 107938379 + Missense_Mutation SNP A T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr3:107938379A>T uc003dwx.3 - 2 501 c.253T>A c.(253-255)TAC>AAC p.Y85N NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN estrogen-related receptor beta like 1 85 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding ovary(1)|skin(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) CAAAACATGTAGAACTGTTCG 0.408 COL6A6 131873 broad.mit.edu 37 3 130354555 130354555 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr3:130354555G>A uc010htl.2 + 27 5072 c.5041G>A c.(5041-5043)GAC>AAC p.D1681N COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1681 Triple-helical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TGAGATTGGGGACCCTGGTGG 0.373 FRAS1 80144 broad.mit.edu 37 4 79399128 79399128 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr4:79399128G>A uc003hlb.2 + 55 8451 c.8011G>A c.(8011-8013)GAG>AAG p.E2671K NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2666 Extracellular (Potential).|Calx-beta 2. cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CAACGATACCGAGGATGAACC 0.458 NR3C2 4306 broad.mit.edu 37 4 149073647 149073647 + Missense_Mutation SNP T C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr4:149073647T>C uc003ilj.3 - 6 2817 c.2483A>G c.(2482-2484)TAT>TGT p.Y828C NR3C2_uc003ilk.3_Missense_Mutation_p.Y711C|NR3C2_uc010iph.2_Intron NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 828 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) TGGTGCAAAATAGAGAAATTG 0.358 ADAM29 11086 broad.mit.edu 37 4 175897719 175897719 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr4:175897719G>A uc003iuc.2 + 5 1713 c.1043G>A c.(1042-1044)CGT>CAT p.R348H ADAM29_uc003iud.2_Missense_Mutation_p.R348H|ADAM29_uc010irr.2_Missense_Mutation_p.R348H|ADAM29_uc011cki.1_Missense_Mutation_p.R348H NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 348 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GATACATGTCGTTGTTCACAA 0.373 SRP19 6728 broad.mit.edu 37 5 112227799 112227799 + Missense_Mutation SNP A G G rs712665 by1000genomes TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr5:112227799A>G uc011cvv.1 + 4 793 c.538A>G c.(538-540)AGT>GGT p.S180G SRP19_uc011cvu.1_Missense_Mutation_p.S165G|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron P09132 SRP19_HUMAN SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2; Error:Variant_position_missing_in_P09132_after_alignment response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding 0 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) TTTAGAAAATAGTACCACATG 0.328 KIF3A 11127 broad.mit.edu 37 5 132038627 132038627 + Nonsense_Mutation SNP C A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr5:132038627C>A uc003kxo.2 - 11 1670 c.1516G>T c.(1516-1518)GAA>TAA p.E506* KIF3A_uc003kxm.2_Nonsense_Mutation_p.E88*|KIF3A_uc003kxn.2_Nonsense_Mutation_p.E491*|KIF3A_uc011cxf.1_Nonsense_Mutation_p.E533*|KIF3A_uc003kxp.2_Nonsense_Mutation_p.E509* NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 506 Potential. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTCCTCCTTTCTTCCAGTTCC 0.408 SPOCK1 6695 broad.mit.edu 37 5 136324273 136324273 + Silent SNP A G G TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr5:136324273A>G uc003lbo.2 - 7 957 c.766T>C c.(766-768)TTG>CTG p.L256L SPOCK1_uc003lbp.2_Silent_p.L256L NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 256 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTCATGTCCAACTTGTTGAAC 0.498 ETF1 2107 broad.mit.edu 37 5 137848498 137848498 + Silent SNP G T T rs145474099 byFrequency TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr5:137848498G>T uc003ldc.3 - 6 852 c.687C>A c.(685-687)TCC>TCA p.S229S ETF1_uc011cyv.1_Silent_p.S215S|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Silent_p.S196S|ETF1_uc010jey.1_Silent_p.S35S NM_004730 NP_004721 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 229 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TAAAGTCAGCGGATCCAGCTA 0.403 PCDHA2 56146 broad.mit.edu 37 5 140176802 140176802 + Silent SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr5:140176802G>A uc003lhd.2 + 1 2359 c.2253G>A c.(2251-2253)TCG>TCA p.S751S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.S751S|PCDHA2_uc011czy.1_Silent_p.S751S NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 751 Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCTTACTCGCAGCAGAGGC 0.672 ARAP3 64411 broad.mit.edu 37 5 141041288 141041288 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr5:141041288G>A uc003llm.2 - 21 3160 c.3082C>T c.(3082-3084)CGC>TGC p.R1028C ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.R690C|ARAP3_uc003lln.2_Missense_Mutation_p.R859C NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1028 Rho-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 AGTGTGCGGCGGTTGACCCGC 0.552 ZNF165 7718 broad.mit.edu 37 6 28053436 28053436 + Missense_Mutation SNP T C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr6:28053436T>C uc003nkg.2 + 3 1262 c.178T>C c.(178-180)TCT>CCT p.S60P ZNF165_uc003nkh.2_Missense_Mutation_p.S60P|ZNF165_uc003nki.3_Missense_Mutation_p.S60P NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 60 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTACCAGGATTCTCCTGGACC 0.537 ITPR3 3710 broad.mit.edu 37 6 33653482 33653482 + Missense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr6:33653482C>T uc011drk.1 + 41 5764 c.5545C>T c.(5545-5547)CGC>TGC p.R1849C ITPR3_uc003oey.2_5'Flank NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 1849 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding p.R1849C(1) ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CCCCAGCCTGCGCCGGGGGCA 0.662 SNAP91 9892 broad.mit.edu 37 6 84292053 84292053 + Silent SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr6:84292053C>T uc011dze.1 - 22 2354 c.2037G>A c.(2035-2037)GCG>GCA p.A679A SNAP91_uc011dzd.1_Silent_p.A182A|SNAP91_uc003pkb.2_Silent_p.A588A|SNAP91_uc003pkc.2_Silent_p.A649A|SNAP91_uc003pkd.2_Silent_p.A372A|SNAP91_uc003pka.2_Silent_p.A677A NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 679 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) ATGGGGAAGGCGCCATGAAAG 0.433 PM20D2 135293 broad.mit.edu 37 6 89868090 89868090 + Missense_Mutation SNP A G G rs141826904 byFrequency TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr6:89868090A>G uc003pmz.2 + 5 1054 c.959A>G c.(958-960)AAT>AGT p.N320S NM_001010853 NP_001010853 Q8IYS1 P20D2_HUMAN aminoacylase 1-like 2 320 hydrolase activity 0 all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00813) GTTCTTCCCAATAAGAGCCTA 0.318 SIM1 6492 broad.mit.edu 37 6 100841583 100841583 + Silent SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr6:100841583C>T uc003pqj.3 - 10 1557 c.1350G>A c.(1348-1350)GCG>GCA p.A450A SIM1_uc010kcu.2_Silent_p.A450A NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 450 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AGTGGTCAAGCGCAAAGCCAT 0.622 BCLAF1 9774 broad.mit.edu 37 6 136599630 136599630 + Missense_Mutation SNP C T T rs147614051 TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr6:136599630C>T uc003qgx.1 - 4 642 c.389G>A c.(388-390)CGC>CAC p.R130H BCLAF1_uc003qgw.1_Missense_Mutation_p.R130H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R128H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R128H NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 130 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ATATGACCGGCGAGATCTGCT 0.458 OPRM1 4988 broad.mit.edu 37 6 154412347 154412347 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr6:154412347G>A uc003qpr.2 + 3 1141 c.904G>A c.(904-906)GTC>ATC p.V302I OPRM1_uc011efc.1_Missense_Mutation_p.V221I|OPRM1_uc011efd.1_Missense_Mutation_p.V202I|OPRM1_uc011efe.1_Missense_Mutation_p.V395I|OPRM1_uc003qpn.2_Missense_Mutation_p.V302I|OPRM1_uc003qpo.1_Missense_Mutation_p.V302I|OPRM1_uc011eff.1_Missense_Mutation_p.V302I|OPRM1_uc011efg.1_Missense_Mutation_p.V302I|OPRM1_uc011efh.1_Missense_Mutation_p.V302I|OPRM1_uc003qpq.1_Missense_Mutation_p.V302I|OPRM1_uc003qpt.1_Missense_Mutation_p.V302I|OPRM1_uc011efi.1_Missense_Mutation_p.V302I|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.V202I|OPRM1_uc003qpu.2_Missense_Mutation_p.V202I NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 302 Helical; Name=6; (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) TCACATTTACGTCATCATTAA 0.483 SDK1 221935 broad.mit.edu 37 7 4011107 4011107 + Missense_Mutation SNP C A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:4011107C>A uc003smx.2 + 12 1863 c.1724C>A c.(1723-1725)TCC>TAC p.S575Y NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 575 Ig-like C2-type 6. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GATCGGACGTCCATCGTCCAC 0.552 IKZF1 10320 broad.mit.edu 37 7 50468038 50468038 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:50468038G>A uc003tow.3 + 9 1441 c.1273G>A c.(1273-1275)GGG>AGG p.G425R IKZF1_uc003tox.3_Missense_Mutation_p.G383R|IKZF1_uc003toy.3_Missense_Mutation_p.G383R|IKZF1_uc011kck.1_Missense_Mutation_p.G338R|IKZF1_uc003toz.3_Missense_Mutation_p.G395R|IKZF1_uc010kyx.2_Missense_Mutation_p.G165R|IKZF1_uc003tpa.3_Missense_Mutation_p.G167R NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 425 PHARNGL -> RRAQRV (in Ref. 2; AAB50683). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CGCGCGCAACGGGCTGTCGCT 0.677 D ALL VSTM2A 222008 broad.mit.edu 37 7 54636702 54636702 + Missense_Mutation SNP G C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:54636702G>C uc010kzf.2 + 5 1040 c.635G>C c.(634-636)GGT>GCT p.G212A VSTM2A_uc003tqc.3_Intron|uc003tqd.2_5'Flank NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2 212 extracellular region 0 STAD - Stomach adenocarcinoma(5;0.0525) TCTTCCGCAGGTGCGAGGATA 0.383 CALCR 799 broad.mit.edu 37 7 93106887 93106887 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:93106887G>A uc003umv.1 - 5 614 c.353C>T c.(352-354)CCG>CTG p.P118L CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.P100L|CALCR_uc003umw.2_Missense_Mutation_p.P100L NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 100 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ATCAAAATCCGGAAAATAATC 0.413 ZAN 7455 broad.mit.edu 37 7 100357434 100357434 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:100357434G>A uc003uwj.2 + 18 3827 c.3662G>A c.(3661-3663)AGC>AAC p.S1221N ZAN_uc003uwk.2_Missense_Mutation_p.S1221N|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1221 VWFD 1.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTGCCCGAGAGCACCGTCACC 0.602 C7orf58 79974 broad.mit.edu 37 7 120655897 120655897 + Missense_Mutation SNP A G G TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:120655897A>G uc003vjq.3 + 3 875 c.428A>G c.(427-429)GAA>GGA p.E143G C7orf58_uc003vjr.1_Missense_Mutation_p.E143G|C7orf58_uc003vjs.3_Missense_Mutation_p.E143G NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 143 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GGGCTACTAGAACAAGGTCAG 0.423 JHDM1D 80853 broad.mit.edu 37 7 139826573 139826573 + Missense_Mutation SNP A T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:139826573A>T uc003vvm.2 - 6 756 c.752T>A c.(751-753)GTG>GAG p.V251E NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 251 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) ATAATTTTCCACCCAGGAAAG 0.378 TRY6 154754 broad.mit.edu 37 7 142482278 142482278 + Missense_Mutation SNP T C C TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:142482278T>C uc011ksq.1 + 5 741 c.658T>C c.(658-660)TGT>CGT p.C220R uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_Intron NR_001296 SubName: Full=Protease, serine, 3; Flags: Fragment; 0 GGGCTATGGCTGTGCCCAGAA 0.517 GSTK1 373156 broad.mit.edu 37 7 142964771 142964771 + Missense_Mutation SNP C T T rs41275042 byFrequency TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:142964771C>T uc003wci.2 + 6 567 c.482C>T c.(481-483)ACG>ATG p.T161M GSTK1_uc011ksy.1_Missense_Mutation_p.T118M|GSTK1_uc003wcj.2_Missense_Mutation_p.T217M|GSTK1_uc011ksz.1_Missense_Mutation_p.T149M NM_015917 NP_057001 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 isoform a 161 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity 0 Melanoma(164;0.059) Glutathione(DB00143) AAGATCGCAACGCCAAAGGTG 0.512 NOBOX 135935 broad.mit.edu 37 7 144098495 144098495 + Missense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:144098495C>T uc011kue.1 - 4 488 c.488G>A c.(487-489)CGC>CAC p.R163H NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 163 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) AGCCCTGGAGCGGGGGGGCGG 0.627 AGAP3 116988 broad.mit.edu 37 7 150840441 150840441 + Missense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:150840441C>T uc003wjg.1 + 17 2290 c.2287C>T c.(2287-2289)CGC>TGC p.R763C AGAP3_uc003wje.1_Missense_Mutation_p.R432C|AGAP3_uc003wjj.1_Missense_Mutation_p.R262C|AGAP3_uc003wjk.1_Missense_Mutation_p.R181C NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 727 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 GGAGAAGGAACGCTGGATACG 0.617 RBM33 155435 broad.mit.edu 37 7 155538204 155538204 + Missense_Mutation SNP G T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr7:155538204G>T uc010lqk.1 + 14 3255 c.2887G>T c.(2887-2889)GTG>TTG p.V963L RBM33_uc011kvv.1_Missense_Mutation_p.V772L|RBM33_uc003wmg.2_5'Flank NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 963 nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) AAAGCCTGGCGTGAAAAGGAC 0.602 RB1CC1 9821 broad.mit.edu 37 8 53571454 53571454 + Missense_Mutation SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chr8:53571454G>A uc003xre.3 - 13 2330 c.1772C>T c.(1771-1773)TCG>TTG p.S591L RB1CC1_uc003xrf.3_Missense_Mutation_p.S591L NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 591 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CTGAACTTCCGAAGGACAAAA 0.323 KIAA2022 340533 broad.mit.edu 37 X 73963609 73963609 + Silent SNP G A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chrX:73963609G>A uc004eby.2 - 3 1400 c.783C>T c.(781-783)TTC>TTT p.F261F NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 261 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TAAAAGTCTCGAAGTAACCCC 0.393 NRK 203447 broad.mit.edu 37 X 105152945 105152945 + Nonsense_Mutation SNP C T T TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chrX:105152945C>T uc004emd.2 + 13 1615 c.1312C>T c.(1312-1314)CGA>TGA p.R438* NRK_uc010npc.1_Nonsense_Mutation_p.R106* NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 438 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GGCACCTCAACGACTACAAGG 0.557 HNSCC(51;0.14) SH2D1A 4068 broad.mit.edu 37 X 123504148 123504149 + Frame_Shift_Ins INS - A A TCGA-06-0209-01A-01D-1491-08 TCGA-06-0209-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b4a7de67-14b6-4b8c-abbe-9eaa990d905e dc506a4e-4b70-49ce-a3f8-beb81638a762 g.chrX:123504148_123504149insA uc004euf.3 + 3 669_670 c.324_325insA c.(322-327)GCTAGAfs p.A108fs SH2D1A_uc004euh.3_Frame_Shift_Ins_p.A108fs|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_RNA NM_002351 NP_002342 O60880 SH21A_HUMAN SH2 domain protein 1A isoform 1 108_109 cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity 0 AGTCCTCAGCTAGAAGTACACA 0.371 X-linked_Lymphoproliferative_syndrome