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 UBE2U 148581 broad.mit.edu 37 1 64707415 64707418 + Splice_Site DEL AAGT - - TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr1:64707415_64707418delAAGT uc001dbn.1 + 8 921 c.677_splice c.e8+1 p.K226_splice NM_152489 NP_689702 Q5VVX9 UBE2U_HUMAN ubiquitin-conjugating enzyme E2U (putative) ATP binding|protein binding|ubiquitin-protein ligase activity 0 ATGGAATTTAAAGTAAGAAATATG 0.304 BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T - - TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr1:85736511delT uc001dkz.2 - 3 841 c.136delA c.(136-138)ATAfs p.I46fs NM_003921 NP_003912 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. I->A: Abolishes cell death-inducing capability. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding lung(2) 2 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT AMPD1 270 broad.mit.edu 37 1 115221096 115221096 + Missense_Mutation SNP C T T rs142123340 by1000genomes TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr1:115221096C>T uc001efe.1 - 8 1034 c.950G>A c.(949-951)CGT>CAT p.R317H AMPD1_uc001eff.1_Missense_Mutation_p.R313H NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 317 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-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) Adenosine monophosphate(DB00131) CTTAATAAAACGCAGCAGATG 0.368 ASH1L 55870 broad.mit.edu 37 1 155449241 155449241 + Silent SNP G C C TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr1:155449241G>C uc009wqq.2 - 3 3900 c.3420C>G c.(3418-3420)TCC>TCG p.S1140S ASH1L_uc001fkt.2_Silent_p.S1140S|ASH1L_uc009wqr.1_Silent_p.S1140S NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1140 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TGCCCTGTCTGGAGTGTAAAT 0.478 SEC16B 89866 broad.mit.edu 37 1 177937026 177937026 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr1:177937026C>T uc001gli.1 - 2 181 c.91G>A c.(91-93)GGA>AGA p.G31R SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.G31R|SEC16B_uc001gll.3_Missense_Mutation_p.G31R NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 31 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 CGATGATGTCCATCTCTCCGA 0.602 USH2A 7399 broad.mit.edu 37 1 216595556 216595556 + Silent SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr1:216595556C>T uc001hku.1 - 2 510 c.123G>A c.(121-123)GAG>GAA p.E41E USH2A_uc001hkv.2_Silent_p.E41E NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 41 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTCCCACGTTCTCCAGCCTTG 0.473 HNSCC(13;0.011) C1orf69 200205 broad.mit.edu 37 1 228362953 228362953 + Missense_Mutation SNP C A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr1:228362953C>A uc001hsl.3 + 3 899 c.810C>A c.(808-810)CAC>CAA p.H270Q C1orf69_uc010pvw.1_Missense_Mutation_p.H77Q NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 270 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) CCCGCACCCACCACATGGGCG 0.652 OBSCN 84033 broad.mit.edu 37 1 228564891 228564891 + Silent SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr1:228564891G>A uc009xez.1 + 101 23222 c.23178G>A c.(23176-23178)CCG>CCA p.P7726P OBSCN_uc001hsr.1_Silent_p.P2355P NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 7726 Protein kinase 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TGCGCCACCCGCACCTGGCCC 0.697 ZP4 57829 broad.mit.edu 37 1 238048807 238048807 + Silent SNP C G G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr1:238048807C>G uc001hym.2 - 8 1044 c.1044G>C c.(1042-1044)GTG>GTC p.V348V LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 348 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGGAGACCTCCACGTAAATGG 0.522 KIAA1462 57608 broad.mit.edu 37 10 30336587 30336587 + Missense_Mutation SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr10:30336587G>A uc001iux.2 - 1 214 c.155C>T c.(154-156)GCG>GTG p.A52V KIAA1462_uc001iuy.2_Missense_Mutation_p.A52V|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.A52V NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 52 ovary(4) 4 TGCGAGGGCCGCAGGGCCATC 0.677 LRDD 55367 broad.mit.edu 37 11 800341 800341 + Missense_Mutation SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr11:800341G>A uc001lro.1 - 13 2294 c.2152C>T c.(2152-2154)CGG>TGG p.R718W SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_Intron|LRDD_uc001lrk.1_Intron|LRDD_uc001lrl.1_Missense_Mutation_p.R561W|LRDD_uc001lrm.1_Missense_Mutation_p.R405W|LRDD_uc001lrn.1_Missense_Mutation_p.R561W|LRDD_uc001lrp.1_Intron NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 718 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACCTGGCCCCGCACAGCCTGA 0.627 OR51T1 401665 broad.mit.edu 37 11 4904033 4904033 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr11:4904033C>T uc010qyp.1 + 1 985 c.985C>T c.(985-987)CGC>TGC p.R329C NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CAAGACAATCCGCCAGGCTAT 0.488 OR52H1 390067 broad.mit.edu 37 11 5565836 5565836 + Missense_Mutation SNP C A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr11:5565836C>A uc010qzh.1 - 1 918 c.918G>T c.(916-918)CAG>CAT p.Q306H HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATCTCTGATCTGCTTGGTCT 0.403 TRIM22 10346 broad.mit.edu 37 11 5730417 5730417 + Missense_Mutation SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr11:5730417G>A uc001mbr.2 + 8 1313 c.1036G>A c.(1036-1038)GGC>AGC p.G346S TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.G342S|TRIM22_uc010qzm.1_Missense_Mutation_p.G174S|TRIM22_uc009yeu.2_Missense_Mutation_p.G157S|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 346 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TGGTGTCTTCGGCTGCCAATA 0.408 MPEG1 219972 broad.mit.edu 37 11 58978683 58978683 + Silent SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr11:58978683C>T uc001nnu.3 - 1 1812 c.1656G>A c.(1654-1656)CCG>CCA p.P552P NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 552 Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) TTTTCAGAGACGGTGCCCCTA 0.567 KRTAP5-9 3846 broad.mit.edu 37 11 71260048 71260048 + Silent SNP T C C TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr11:71260048T>C uc001oqs.1 + 1 583 c.345T>C c.(343-345)TGT>TGC p.C115C NM_005553 NP_005544 P26371 KRA59_HUMAN keratin associated protein 5-9 115 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament 0 GTAAGCCCTGTTGCTCCTCCT 0.622 NCAM1 4684 broad.mit.edu 37 11 113103495 113103496 + Frame_Shift_Ins INS - CATTGGGC CATTGGGC TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr11:113103495_113103496insCATTGGGC uc009yyq.1 + 13 1899_1900 c.1205_1206insCATTGGGC c.(1204-1206)CGCfs p.R402fs NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 494 Ig-like C2-type 5.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCAGTGAACCGCATTGGGCAGG 0.510 SIK3 23387 broad.mit.edu 37 11 116732043 116732043 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr11:116732043C>T uc001ppy.2 - 18 2090 c.2054G>A c.(2053-2055)AGG>AAG p.R685K SIK3_uc001ppz.2_Missense_Mutation_p.R584K|SIK3_uc001pqa.2_Missense_Mutation_p.R685K|SIK3_uc001ppw.2_Missense_Mutation_p.R102K|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_5'UTR NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 685 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 ACTGGGCTGCCTGAAGAGATG 0.493 OREG0003492 type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay TMPRSS4 56649 broad.mit.edu 37 11 117985628 117985628 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr11:117985628C>T uc010rxo.1 + 10 1286 c.995C>T c.(994-996)ACG>ATG p.T332M TMPRSS4_uc010rxp.1_Missense_Mutation_p.T327M|TMPRSS4_uc010rxq.1_Missense_Mutation_p.T185M|TMPRSS4_uc010rxr.1_Missense_Mutation_p.T307M|TMPRSS4_uc010rxs.1_Missense_Mutation_p.T292M|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Missense_Mutation_p.T307M NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 isoform 1 332 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TGGGGCTTTACGAAGCAGAAT 0.572 TECTA 7007 broad.mit.edu 37 11 121037459 121037459 + Silent SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr11:121037459C>T uc010rzo.1 + 17 5556 c.5556C>T c.(5554-5556)AAC>AAT p.N1852N NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1852 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGATCAACAACACCAAAGGGA 0.498 CLEC12A 160364 broad.mit.edu 37 12 10132026 10132026 + Missense_Mutation SNP G T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr12:10132026G>T uc001qwr.3 + 3 470 c.282G>T c.(280-282)ATG>ATT p.M94I CLEC12A_uc001qwq.2_Missense_Mutation_p.M104I|CLEC12A_uc001qws.3_Missense_Mutation_p.M61I|CLEC12A_uc001qwt.2_Missense_Mutation_p.M23I NM_138337 NP_612210 Q5QGZ9 CL12A_HUMAN myeloid inhibitory C-type lectin-like receptor 94 Extracellular (Potential). integral to membrane|plasma membrane receptor activity|sugar binding skin(1) 1 TACAACTGATGAGTAACATGA 0.363 ITGB7 3695 broad.mit.edu 37 12 53590523 53590523 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr12:53590523C>T uc009zmv.2 - 5 727 c.656G>A c.(655-657)CGG>CAG p.R219Q ITGB7_uc001scc.2_Missense_Mutation_p.R219Q|ITGB7_uc010snz.1_RNA|ITGB7_uc010soa.1_3'UTR NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor 219 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 GCGCTCCAGCCGGGTGGGGCA 0.617 ACACB 32 broad.mit.edu 37 12 109609642 109609642 + Missense_Mutation SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr12:109609642G>A uc001tob.2 + 5 1077 c.958G>A c.(958-960)GTC>ATC p.V320I ACACB_uc001toc.2_Missense_Mutation_p.V320I NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 320 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TTACGTCCCCGTCCCAGGAGG 0.502 XPO4 64328 broad.mit.edu 37 13 21362729 21362729 + Frame_Shift_Del DEL G - - TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr13:21362729delG uc001unq.3 - 20 2979 c.2943delC c.(2941-2943)TACfs p.Y981fs NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 981 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TGATTAATTTGTAGTACTGAT 0.299 KCTD12 115207 broad.mit.edu 37 13 77459429 77459429 + Silent SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr13:77459429G>A uc010aeu.1 - 1 1112 c.855C>T c.(853-855)TCC>TCT p.S285S KCTD12_uc001vka.1_Silent_p.S285S NM_138444 NP_612453 Q96CX2 KCD12_HUMAN potassium channel tetramerisation domain 285 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(1) 1 Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.0499) AGCCCGACTCGGACAGCTTGT 0.637 OREG0022449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KCNH5 27133 broad.mit.edu 37 14 63447809 63447809 + Silent SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr14:63447809C>T uc001xfx.2 - 6 774 c.723G>A c.(721-723)AAG>AAA p.K241K KCNH5_uc001xfy.2_Silent_p.K241K|KCNH5_uc001xfz.1_Silent_p.K183K|KCNH5_uc001xga.2_Silent_p.K183K NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 241 Extracellular (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGTTGTTCTGCTTTGTTTTGA 0.398 KIAA1409 57578 broad.mit.edu 37 14 94052956 94052956 + Missense_Mutation SNP A G G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr14:94052956A>G uc001ybv.1 + 18 2370 c.2287A>G c.(2287-2289)ACC>GCC p.T763A KIAA1409_uc001ybs.1_Missense_Mutation_p.T763A NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 940 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AAAGAATGATACCGAAAGAAA 0.338 SERPINA9 327657 broad.mit.edu 37 14 94933658 94933658 + Silent SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr14:94933658G>A uc001ydf.2 - 3 905 c.744C>T c.(742-744)GGC>GGT p.G248G SERPINA9_uc001yde.2_Silent_p.G148G|SERPINA9_uc010avc.2_Silent_p.G99G|SERPINA9_uc001ydg.2_Silent_p.G212G|SERPINA9_uc001ydh.1_Silent_p.G248G|SERPINA9_uc001ydi.1_Silent_p.G212G NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 230 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) TGACCTGCTCGCCCACCAGGA 0.473 TMCO5A 145942 broad.mit.edu 37 15 38239874 38239874 + Missense_Mutation SNP G C C TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr15:38239874G>C uc001zjw.2 + 10 748 c.645G>C c.(643-645)AAG>AAC p.K215N TMCO5A_uc001zjv.1_Missense_Mutation_p.K215N NM_152453 NP_689666 Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 215 integral to membrane central_nervous_system(1) 1 CTACCCAAAAGACAGCAAGAT 0.318 SRRM2 23524 broad.mit.edu 37 16 2812739 2812739 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr16:2812739C>T uc002crk.2 + 11 2759 c.2210C>T c.(2209-2211)TCT>TTT p.S737F SRRM2_uc002crj.1_Missense_Mutation_p.S641F|SRRM2_uc002crl.1_Missense_Mutation_p.S737F|SRRM2_uc010bsu.1_Missense_Mutation_p.S641F NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 737 Arg-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 TCCAGAACATCTCAAAGAAGA 0.448 VPS53 55275 broad.mit.edu 37 17 440383 440383 + Nonsense_Mutation SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr17:440383G>A uc002frn.2 - 18 2047 c.1900C>T c.(1900-1902)CAG>TAG p.Q634* VPS53_uc002frk.2_Nonsense_Mutation_p.Q153*|VPS53_uc010cjo.1_Nonsense_Mutation_p.Q634*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.Q605*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q436*|VPS53_uc010cjp.1_Nonsense_Mutation_p.Q357* NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 634 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TAGGGGCTCTGGTCACCAACG 0.547 GSDMB 55876 broad.mit.edu 37 17 38062400 38062400 + Silent SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr17:38062400G>A uc010cwj.2 - 7 857 c.852C>T c.(850-852)CTC>CTT p.L284L GSDMB_uc010cwi.2_Silent_p.L31L|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Silent_p.L262L|GSDMB_uc002hth.2_Silent_p.L271L|GSDMB_uc010wem.1_Silent_p.L275L NM_001042471 NP_001035936 Q8TAX9 GSDMB_HUMAN gasdermin B isoform 1 279 cytoplasm breast(1)|pancreas(1) 2 CCTCCTTGCCGAGGCACTTAG 0.522 ITGA3 3675 broad.mit.edu 37 17 48156217 48156217 + Missense_Mutation SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr17:48156217G>A uc010dbl.2 + 19 2791 c.2327G>A c.(2326-2328)GGG>GAG p.G776E ITGA3_uc010dbm.2_Missense_Mutation_p.G776E NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 776 Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 AGCTTCTTTGGGGGGACAGTG 0.582 ANKRD40 91369 broad.mit.edu 37 17 48776813 48776813 + Missense_Mutation SNP G A A rs148279576 TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr17:48776813G>A uc002iso.2 - 3 980 c.725C>T c.(724-726)GCG>GTG p.A242V NM_052855 NP_443087 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 242 Pro-rich. 0 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) GAATGCTGGCGCTGGTCCTGC 0.522 COIL 8161 broad.mit.edu 37 17 55027963 55027963 + Missense_Mutation SNP G T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr17:55027963G>T uc002iuu.2 - 2 671 c.640C>A c.(640-642)CAG>AAG p.Q214K NM_004645 NP_004636 P38432 COIL_HUMAN coilin 214 Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) CTACATCTCTGATTGGCCCAG 0.403 ABCA9 10350 broad.mit.edu 37 17 66981088 66981088 + Silent SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr17:66981088C>T uc002jhu.2 - 34 4460 c.4317G>A c.(4315-4317)CCG>CCA p.P1439P ABCA9_uc010dez.2_Silent_p.P1401P NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1439 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) GCACCACTGACGGGTTCCCCA 0.587 SETBP1 26040 broad.mit.edu 37 18 42529847 42529847 + Missense_Mutation SNP C G G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr18:42529847C>G uc010dni.2 + 4 838 c.542C>G c.(541-543)GCT>GGT p.A181G NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 181 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CACCCTTAGGCTTACGAGAGG 0.398 Schinzel-Giedion_syndrome SLC14A1 6563 broad.mit.edu 37 18 43310353 43310353 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr18:43310353C>T uc010xcn.1 + 4 387 c.68C>T c.(67-69)TCG>TTG p.S23L SLC14A1_uc010dnk.2_Missense_Mutation_p.S79L|SLC14A1_uc002lbf.3_Missense_Mutation_p.S23L|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.S79L|SLC14A1_uc002lbk.3_Missense_Mutation_p.S23L NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 23 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 AACCAGGTTTCGCCATGTCAA 0.507 SF3A2 8175 broad.mit.edu 37 19 2248259 2248260 + Frame_Shift_Ins INS - G G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr19:2248259_2248260insG uc002lvg.2 + 9 1231_1232 c.1109_1110insG c.(1108-1110)GCGfs p.A370fs AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank NM_007165 NP_009096 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2 370 Pro-rich. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCCATCAGCGGGGGTTCACC 0.748 LRRC8E 80131 broad.mit.edu 37 19 7965735 7965735 + Silent SNP G T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr19:7965735G>T uc002mir.2 + 3 2429 c.2328G>T c.(2326-2328)CTG>CTT p.L776L NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 776 integral to membrane lung(1)|pancreas(1) 2 CGGGGCTCCTGGTGGAAGACA 0.597 MUC16 94025 broad.mit.edu 37 19 9072143 9072143 + Silent SNP T A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr19:9072143T>A uc002mkp.2 - 3 15507 c.15303A>T c.(15301-15303)TCA>TCT p.S5101S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5103 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 GTATCTTATCTGAGGTGCTGC 0.423 DTNB 1838 broad.mit.edu 37 2 25674485 25674485 + Nonsense_Mutation SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr2:25674485G>A uc002rgh.2 - 12 1439 c.1189C>T c.(1189-1191)CGA>TGA p.R397* DTNB_uc002rgg.2_Nonsense_Mutation_p.R26*|DTNB_uc010yko.1_Nonsense_Mutation_p.R340*|DTNB_uc010ykp.1_Nonsense_Mutation_p.R193*|DTNB_uc002rgo.2_Nonsense_Mutation_p.R188*|DTNB_uc002rgi.2_Nonsense_Mutation_p.R397*|DTNB_uc002rgj.2_Nonsense_Mutation_p.R397*|DTNB_uc002rgk.2_Nonsense_Mutation_p.R367*|DTNB_uc002rgl.2_Nonsense_Mutation_p.R367*|DTNB_uc002rgq.2_Nonsense_Mutation_p.R397*|DTNB_uc002rgm.2_Nonsense_Mutation_p.R367*|DTNB_uc002rgn.2_Nonsense_Mutation_p.R193*|DTNB_uc002rgr.1_Nonsense_Mutation_p.R386*|DTNB_uc010ykq.1_Nonsense_Mutation_p.R250* NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 397 cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCATCCAGTCGGCTAGGACTG 0.468 DUSP11 8446 broad.mit.edu 37 2 74007043 74007043 + Missense_Mutation SNP C A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr2:74007043C>A uc002sjp.2 - 1 242 c.200G>T c.(199-201)CGC>CTC p.R67L DUSP11_uc002sjq.3_Missense_Mutation_p.R67L NM_003584 NP_003575 O75319 DUS11_HUMAN dual specificity phosphatase 11 20 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding skin(1) 1 GGCTGAGGAGCGTCCTGAAAA 0.617 OREG0014714 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MAP4K4 9448 broad.mit.edu 37 2 102483026 102483026 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr2:102483026C>T uc002tbg.2 + 18 2162 c.2107C>T c.(2107-2109)CGC>TGC p.R703C MAP4K4_uc002tbc.2_Missense_Mutation_p.R781C|MAP4K4_uc002tbd.2_Missense_Mutation_p.R673C|MAP4K4_uc002tbe.2_Missense_Mutation_p.R619C|MAP4K4_uc002tbf.2_Missense_Mutation_p.R673C|MAP4K4_uc010yvy.1_Missense_Mutation_p.R696C|MAP4K4_uc002tbh.2_Missense_Mutation_p.R618C|MAP4K4_uc002tbi.2_Missense_Mutation_p.R503C|MAP4K4_uc010yvz.1_Missense_Mutation_p.R676C|MAP4K4_uc002tbk.2_Missense_Mutation_p.R158C|MAP4K4_uc002tbl.2_Translation_Start_Site NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 703 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CTCCGGGGAACGCTTCAGAGT 0.532 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + Missense_Mutation SNP C G G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr2:114355998C>G uc002tkh.2 + 5 674 c.616C>G c.(616-618)CAC>GAC p.H206D WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA NM_182905 NP_878908 WAS protein family homolog 1 0 CCAAGGTGGGCACTTGATGTC 0.612 ZAK 51776 broad.mit.edu 37 2 174131422 174131422 + Missense_Mutation SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr2:174131422G>A uc002uhz.2 + 20 2547 c.2347G>A c.(2347-2349)GCC>ACC p.A783T uc002uib.2_Intron NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 783 activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) GCCATCTCCCGCCAAAACCAA 0.473 MYO1B 4430 broad.mit.edu 37 2 192261188 192261188 + Missense_Mutation SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr2:192261188G>A uc010fsg.2 + 21 2515 c.2260G>A c.(2260-2262)GCC>ACC p.A754T MYO1B_uc002usq.2_Missense_Mutation_p.A754T|MYO1B_uc002usr.2_Missense_Mutation_p.A754T|MYO1B_uc002usu.2_Missense_Mutation_p.A28T NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 754 IQ 3. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) AAAGAGTTCCGCCTTAGTAAT 0.373 CRKL 1399 broad.mit.edu 37 22 21272527 21272527 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr22:21272527C>T uc002ztf.2 + 1 814 c.305C>T c.(304-306)GCG>GTG p.A102V CRKL_uc002ztg.1_RNA NM_005207 NP_005198 P46109 CRKL_HUMAN v-crk sarcoma virus CT10 oncogene homolog 102 SH2. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity 0 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) ATCGAGCCTGCGCCCAGGTAC 0.607 MTMR3 8897 broad.mit.edu 37 22 30413988 30413988 + Missense_Mutation SNP A G G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr22:30413988A>G uc003agv.3 + 16 2075 c.1747A>G c.(1747-1749)ACC>GCC p.T583A MTMR3_uc003agu.3_Missense_Mutation_p.T583A|MTMR3_uc003agw.3_Missense_Mutation_p.T583A NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 583 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CCCATCCCCAACCACCCCTGT 0.632 SLC5A4 6527 broad.mit.edu 37 22 32626981 32626981 + Missense_Mutation SNP G A A rs150200210 TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr22:32626981G>A uc003ami.2 - 10 1105 c.1103C>T c.(1102-1104)ACG>ATG p.T368M NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 368 Extracellular (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CAGCACCATCGTGGGGTATGC 0.537 MKL1 57591 broad.mit.edu 37 22 40814904 40814904 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr22:40814904C>T uc003ayv.1 - 9 1745 c.1538G>A c.(1537-1539)GGG>GAG p.G513E MKL1_uc003ayw.1_Missense_Mutation_p.G513E|MKL1_uc010gye.1_Missense_Mutation_p.G513E|MKL1_uc010gyf.1_Missense_Mutation_p.G463E NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 513 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CGCCCGCCCCCCAGGGCTCAG 0.672 T RBM15 acute megakaryocytic leukemia TEF 7008 broad.mit.edu 37 22 41790269 41790269 + Silent SNP C A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr22:41790269C>A uc003azy.2 + 3 731 c.645C>A c.(643-645)CCC>CCA p.P215P TEF_uc003azx.2_Silent_p.P185P|TEF_uc011apa.1_Silent_p.P220P NM_003216 NP_003207 Q10587 TEF_HUMAN thyrotrophic embryonic factor isoform 1 215 Pro-rich (proline/acidic region (PAR)). rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 ACCTGAAGCCCCAGCCTATGA 0.547 ZNF385D 79750 broad.mit.edu 37 3 21792472 21792472 + Translation_Start_Site SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr3:21792472G>A uc003cce.2 - 1 345 c.-63C>T c.(-65--61)TACGT>TATGT ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 AGGCTGGCACGTAGAGCAGAG 0.557 SUCLG2 8801 broad.mit.edu 37 3 67570993 67570993 + Silent SNP G C C TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr3:67570993G>C uc003dna.3 - 5 511 c.483C>G c.(481-483)TCC>TCG p.S161S SUCLG2_uc010hob.2_Silent_p.S42S NM_003848 NP_003839 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming beta subunit 161 ATP-grasp. succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|skin(1) 2 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) GGCCATTGCAGGACCGGTCCA 0.502 IFT122 55764 broad.mit.edu 37 3 129214370 129214370 + Missense_Mutation SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr3:129214370G>A uc003emm.2 + 18 2334 c.2128G>A c.(2128-2130)GCC>ACC p.A710T IFT122_uc003eml.2_Missense_Mutation_p.A761T|IFT122_uc003emn.2_Missense_Mutation_p.A651T|IFT122_uc003emo.2_Missense_Mutation_p.A599T|IFT122_uc003emp.2_Missense_Mutation_p.A560T|IFT122_uc010htc.2_Missense_Mutation_p.A702T|IFT122_uc011bky.1_Missense_Mutation_p.A501T|IFT122_uc003emq.2_Missense_Mutation_p.A550T|IFT122_uc003emr.2_Missense_Mutation_p.A462T|IFT122_uc011bla.1_Missense_Mutation_p.A483T|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Missense_Mutation_p.A91T|IFT122_uc011bkx.1_Missense_Mutation_p.A550T|IFT122_uc010htd.1_Missense_Mutation_p.A189T NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 710 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 CCATGAGGCCGCCAAACTGTA 0.512 GRK7 131890 broad.mit.edu 37 3 141497201 141497201 + Silent SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr3:141497201C>T uc011bnd.1 + 1 159 c.75C>T c.(73-75)TGC>TGT p.C25C NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 25 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 CCTCGGACTGCGACAGCAAAG 0.701 TM4SF1 4071 broad.mit.edu 37 3 149093335 149093335 + Missense_Mutation SNP C G G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr3:149093335C>G uc003exb.1 - 3 542 c.308G>C c.(307-309)GGA>GCA p.G103A TM4SF1_uc003exc.1_Missense_Mutation_p.G14A NM_014220 NP_055035 P30408 T4S1_HUMAN transmembrane 4 superfamily member 1 103 Helical; (Probable). integral to plasma membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GTAGCCAGATCCTGCAATTCC 0.507 ADAMTS3 9508 broad.mit.edu 37 4 73184402 73184402 + Missense_Mutation SNP C G G rs80237783 TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr4:73184402C>G uc003hgk.1 - 10 1409 c.1372G>C c.(1372-1374)GAT>CAT p.D458H NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 458 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAAGGGTCATCAAGGAGACAG 0.343 MRPL1 65008 broad.mit.edu 37 4 78804480 78804480 + Silent SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr4:78804480C>T uc003hku.2 + 3 426 c.228C>T c.(226-228)CCC>CCT p.P76P MRPL1_uc010iji.1_5'UTR NM_020236 NP_064621 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 precursor 76 RNA binding 0 AAGCATATCCCTATATGGAAG 0.323 UNC5C 8633 broad.mit.edu 37 4 96090460 96090460 + Silent SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr4:96090460G>A uc003htp.1 - 16 2875 c.2721C>T c.(2719-2721)AGC>AGT p.S907S uc003hto.2_5'Flank NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 907 Cytoplasmic (Potential).|Death. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CTGCCAGCATGCTCAGGTTTC 0.483 NAF1 92345 broad.mit.edu 37 4 164054388 164054388 + Silent SNP A G G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr4:164054388A>G uc003iqj.2 - 7 1145 c.951T>C c.(949-951)GAT>GAC p.D317D NAF1_uc010iqw.1_Silent_p.D317D NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 317 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) TCTCTTTTTCATCATCACTAA 0.333 ODZ3 55714 broad.mit.edu 37 4 183574978 183574978 + Missense_Mutation SNP T C C TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr4:183574978T>C uc003ivd.1 + 5 1080 c.1043T>C c.(1042-1044)TTT>TCT p.F348S NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 348 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AATGACACATTTGAGAATGGA 0.418 SH3RF2 153769 broad.mit.edu 37 5 145393517 145393517 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr5:145393517C>T uc003lnt.2 + 5 1190 c.952C>T c.(952-954)CGC>TGC p.R318C SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 318 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCTTCAGGGCGCCATATGGT 0.577 FRK 2444 broad.mit.edu 37 6 116265439 116265439 + Frame_Shift_Del DEL C - - TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr6:116265439delC uc003pwi.1 - 6 1555 c.1108delG c.(1108-1110)GTAfs p.V370fs NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 370 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AAATCTGCTACTTTGTAGATA 0.388 NKAIN2 154215 broad.mit.edu 37 6 124979424 124979424 + Silent SNP T A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr6:124979424T>A uc003pzo.2 + 4 643 c.366T>A c.(364-366)CCT>CCA p.P122P NKAIN2_uc003pzn.1_Silent_p.P122P|NKAIN2_uc003pzp.2_Silent_p.P121P|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Silent_p.P32P NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 122 integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) CAGTGACACCTGCCCCAGACT 0.502 NOX3 50508 broad.mit.edu 37 6 155743923 155743923 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr6:155743923C>T uc003qqm.2 - 10 1316 c.1213G>A c.(1213-1215)GTT>ATT p.V405I NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 405 Helical; (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CCCGCGGCAACGCACACACAC 0.537 PLG 5340 broad.mit.edu 37 6 161134138 161134138 + Silent SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr6:161134138C>T uc003qtm.3 + 5 591 c.528C>T c.(526-528)TGC>TGT p.C176C NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 176 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ATGACTACTGCGACATTCTTG 0.473 TBX20 57057 broad.mit.edu 37 7 35242129 35242129 + Silent SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr7:35242129C>T uc011kas.1 - 8 1268 c.1257G>A c.(1255-1257)CCG>CCA p.P419P NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 419 nucleus DNA binding central_nervous_system(1) 1 GATGGTATCGCGGCATGTGGA 0.522 NPC1L1 29881 broad.mit.edu 37 7 44560418 44560418 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr7:44560418C>T uc003tlb.2 - 14 3138 c.3082G>A c.(3082-3084)GGC>AGC p.G1028S NPC1L1_uc003tlc.2_Missense_Mutation_p.G1028S|NPC1L1_uc011kbw.1_Missense_Mutation_p.G982S|NPC1L1_uc003tla.2_Missense_Mutation_p.G31S NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1028 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) GCTGCCAGGCCGCTGCAAGAA 0.572 CACNA2D1 781 broad.mit.edu 37 7 81594957 81594957 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr7:81594957C>T uc003uhr.1 - 32 2783 c.2527G>A c.(2527-2529)GAT>AAT p.D843N CACNA2D1_uc011kgy.1_Missense_Mutation_p.D55N NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 855 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AACCCACCATCATCCAGAATC 0.368 ZNF804B 219578 broad.mit.edu 37 7 88965893 88965893 + Silent SNP A G G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr7:88965893A>G uc011khi.1 + 4 4135 c.3597A>G c.(3595-3597)CCA>CCG p.P1199P NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1199 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGACAGTTCCAGTTCACCAGC 0.502 HNSCC(36;0.09) MUC17 140453 broad.mit.edu 37 7 100680859 100680859 + Silent SNP G A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr7:100680859G>A uc003uxp.1 + 3 6215 c.6162G>A c.(6160-6162)ACG>ACA p.T2054T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2054 Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGCACTACGCTTGTGGTCA 0.493 TFEC 22797 broad.mit.edu 37 7 115590932 115590932 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr7:115590932C>T uc003vhj.1 - 6 695 c.511G>A c.(511-513)GAT>AAT p.D171N TFEC_uc003vhk.1_Missense_Mutation_p.D142N|TFEC_uc003vhl.3_Missense_Mutation_p.D142N|TFEC_uc011kmw.1_Missense_Mutation_p.D261N NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 171 Helix-loop-helix motif. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) ACTCACGGATCATTAGACTTT 0.323 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr9:21971029C>T uc003zpk.2 - 2 541 c.329G>A c.(328-330)TGG>TAG p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 110 ANK 4. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) IKBKAP 8518 broad.mit.edu 37 9 111659518 111659518 + Missense_Mutation SNP C A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr9:111659518C>A uc004bdm.3 - 23 2931 c.2411G>T c.(2410-2412)AGT>ATT p.S804I IKBKAP_uc004bdl.2_Missense_Mutation_p.S455I|IKBKAP_uc011lwc.1_Missense_Mutation_p.S690I|IKBKAP_uc010mtq.2_Missense_Mutation_p.S455I NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 804 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 CAGGTAGACACTGCTGGTAAC 0.463 EHMT1 79813 broad.mit.edu 37 9 140638536 140638536 + Silent SNP C A A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chr9:140638536C>A uc011mfc.1 + 6 1201 c.1164C>A c.(1162-1164)GCC>GCA p.A388A EHMT1_uc004coa.2_Silent_p.A388A|EHMT1_uc004cob.1_Silent_p.A357A NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 388 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CTGATCGCGCCCAGAAGGTAT 0.567 OTUD6A 139562 broad.mit.edu 37 X 69283226 69283226 + Silent SNP C G G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chrX:69283226C>G uc004dxu.1 + 1 886 c.852C>G c.(850-852)CTC>CTG p.L284L NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 284 lung(1)|skin(1) 2 GGGGCGTGCTCCCGCGTCTCC 0.607 GLUD2 2747 broad.mit.edu 37 X 120181603 120181603 + Missense_Mutation SNP C T T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 1e103221-ab46-4a5c-9b96-5e34f0d49fc2 1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2 g.chrX:120181603C>T uc004eto.2 + 1 142 c.65C>T c.(64-66)GCG>GTG p.A22V NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 22 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) CTGGGCTCCGCGGCCAACCAC 0.786