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 KIAA1751 85452 broad.mit.edu 37 1 1902133 1902133 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:1902133G>A uc001aim.1 - 10 1167 c.1011C>T c.(1009-1011)CAC>CAT p.H337H KIAA1751_uc009vkz.1_Silent_p.H337H NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 337 Potential. pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GCCGGCGCTGGTGGACAAGGT 0.677 CHD5 26038 broad.mit.edu 37 1 6195434 6195434 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:6195434G>A uc001amb.1 - 18 2826 c.2726C>T c.(2725-2727)GCT>GTT p.A909V CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 909 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGAGATGTCAGCAAACTCCTC 0.602 ZMYM4 9202 broad.mit.edu 37 1 35836122 35836122 + Missense_Mutation SNP G T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:35836122G>T uc001byt.2 + 7 1155 c.1075G>T c.(1075-1077)GGG>TGG p.G359W ZMYM4_uc009vuu.2_Missense_Mutation_p.G327W|ZMYM4_uc001byu.2_Missense_Mutation_p.G35W|ZMYM4_uc009vuv.2_Missense_Mutation_p.G98W|uc001byv.2_5'Flank NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 359 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCAGAGGAAAGGGTCTACTCA 0.483 EPS15 2060 broad.mit.edu 37 1 51869155 51869155 + Missense_Mutation SNP T C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:51869155T>C uc001csq.1 - 17 1819 c.1727A>G c.(1726-1728)GAG>GGG p.E576G EPS15_uc009vyz.1_Missense_Mutation_p.E442G|EPS15_uc001csp.3_Missense_Mutation_p.E262G NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 576 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 TGTAGTCACCTCATTTTCATC 0.303 T MLL ALL ECHDC2 55268 broad.mit.edu 37 1 53370462 53370462 + Silent SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:53370462C>T uc001cup.3 - 7 804 c.558G>A c.(556-558)GCG>GCA p.A186A ECHDC2_uc001cun.2_Silent_p.A109A|ECHDC2_uc001cuo.3_Silent_p.A155A|ECHDC2_uc010onk.1_Silent_p.A140A NM_018281 NP_060751 Q86YB7 ECHD2_HUMAN enoyl Coenzyme A hydratase domain containing 2 186 fatty acid metabolic process mitochondrion lyase activity central_nervous_system(1) 1 TGAGCTCCTTCGCCAGGGCCA 0.642 AMY2B 280 broad.mit.edu 37 1 104115707 104115710 + Frame_Shift_Del DEL TAAT - - TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:104115707_104115710delTAAT uc001duq.2 + 5 954_957 c.338_341delTAAT c.(337-342)GTAATTfs p.V113fs AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Frame_Shift_Del_p.V113fs|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 113_114 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GTGGATGCTGTAATTAATCATATG 0.387 TXNIP 10628 broad.mit.edu 37 1 145439050 145439050 + Missense_Mutation SNP C A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:145439050C>A uc001enn.3 + 1 589 c.248C>A c.(247-249)ACA>AAA p.T83K NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 83 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GACCAGCCAACAGGTAAGCGG 0.463 OR6K2 81448 broad.mit.edu 37 1 158669789 158669789 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:158669789G>A uc001fsu.1 - 1 654 c.654C>T c.(652-654)TCC>TCT p.S218S NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TACCATCGTAGGACATGAAGA 0.478 CNTN2 6900 broad.mit.edu 37 1 205042816 205042816 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:205042816C>T uc001hbr.2 + 23 3315 c.3046C>T c.(3046-3048)CGC>TGC p.R1016C CNTN2_uc001hbs.2_Missense_Mutation_p.R804C NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 1016 axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CATGGCAGTCCGCCCAGCACC 0.607 ZMIZ1 57178 broad.mit.edu 37 10 81065892 81065892 + Missense_Mutation SNP G T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr10:81065892G>T uc001kaf.2 + 22 3031 c.2459G>T c.(2458-2460)TGC>TTC p.C820F ZMIZ1_uc001kag.2_Missense_Mutation_p.C696F|ZMIZ1_uc010qlq.1_5'UTR NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 820 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GATCCCACGTGCAGCTGGCGG 0.607 PNLIP 5406 broad.mit.edu 37 10 118307871 118307871 + Splice_Site SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr10:118307871G>A uc001lcm.2 + 4 245 c.202_splice c.e4-1 p.E68_splice NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGTCTAAACAGGAAGTTGCCG 0.388 KIAA1598 57698 broad.mit.edu 37 10 118728202 118728202 + Silent SNP G T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr10:118728202G>T uc009xyw.2 - 3 631 c.133C>A c.(133-135)CGA>AGA p.R45R KIAA1598_uc001lcz.3_Silent_p.R45R|KIAA1598_uc010qso.1_5'UTR|KIAA1598_uc010qsp.1_Silent_p.R45R|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.3_Silent_p.R15R NM_001127211 NP_001120683 A0MZ66 SHOT1_HUMAN shootin1 isoform a 45 Potential. axon guidance axon 0 all cancers(201;0.00494) GCTTCATCTCGTTCTTGCCTA 0.318 STIM1 6786 broad.mit.edu 37 11 4045179 4045179 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:4045179G>A uc001lyv.2 + 3 915 c.347G>A c.(346-348)AGC>AAC p.S116N STIM1_uc009yef.2_Missense_Mutation_p.S116N NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 116 Extracellular (Potential). activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) AAGCTCATCAGCGTGGAGGAC 0.488 OR8I2 120586 broad.mit.edu 37 11 55861310 55861310 + Missense_Mutation SNP T C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:55861310T>C uc010rix.1 + 1 527 c.527T>C c.(526-528)TTT>TCT p.F176S NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) ATCAATCATTTTTTTTGTGAC 0.443 SLC22A9 114571 broad.mit.edu 37 11 63137793 63137793 + Missense_Mutation SNP C T T rs143461929 by1000genomes TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:63137793C>T uc001nww.2 + 1 533 c.265C>T c.(265-267)CGT>TGT p.R89C SLC22A9_uc001nwx.2_RNA NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 89 Extracellular (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 AGAGAAGTGTCGTCGCTTTGT 0.537 TSGA10IP 254187 broad.mit.edu 37 11 65714723 65714723 + Nonsense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:65714723C>T uc001ogk.1 + 5 459 c.427C>T c.(427-429)CAG>TAG p.Q143* TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron NM_152762 NP_689975 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 143 0 CTCGTTCTCCCAGCGTCAGTC 0.657 MOGAT2 80168 broad.mit.edu 37 11 75439862 75439862 + Silent SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:75439862C>T uc010rru.1 + 5 678 c.678C>T c.(676-678)TTC>TTT p.F226F MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Silent_p.F144F NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 226 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) TCTTCTCCTTCGGGGAGAATG 0.537 GDPD4 220032 broad.mit.edu 37 11 76990356 76990356 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:76990356G>A uc001oyf.2 - 3 393 c.142C>T c.(142-144)CTG>TTG p.L48L NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 48 Helical; (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 CTCACCAACAGCAATGAAGAG 0.433 AMOTL1 154810 broad.mit.edu 37 11 94532995 94532995 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:94532995G>A uc001pfb.2 + 3 809 c.639G>A c.(637-639)GCG>GCA p.A213A AMOTL1_uc001pfc.2_Silent_p.A163A NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 213 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) agcagGGGGCGGTGGGCCATG 0.532 CLDN25 644672 broad.mit.edu 37 11 113650759 113650759 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:113650759G>A uc009yyw.1 + 1 242 c.242G>A c.(241-243)CGC>CAC p.R81H NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 81 Extracellular (Potential). integral to membrane|tight junction structural molecule activity 0 CAGGTAGCCCGCATCCTCATG 0.557 AQP5 362 broad.mit.edu 37 12 50355944 50355944 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr12:50355944G>A uc001rvo.2 + 1 666 c.144G>A c.(142-144)GCG>GCA p.A48A NM_001651 NP_001642 P55064 AQP5_HUMAN aquaporin 5 48 Helical; (Potential). carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity 0 TCGCGCTGGCGTTTGGCCTGG 0.667 HSD17B6 8630 broad.mit.edu 37 12 57167873 57167873 + Silent SNP G A A rs147344470 byFrequency TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr12:57167873G>A uc001smg.1 + 2 347 c.237G>A c.(235-237)ACG>ACA p.T79T NM_003725 NP_003716 O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 79 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity upper_aerodigestive_tract(1)|pancreas(1) 2 Succinic acid(DB00139) GGCTGGAGACGGTGACCCTGG 0.567 NOS1 4842 broad.mit.edu 37 12 117669899 117669899 + Silent SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr12:117669899C>T uc001twm.1 - 22 3959 c.3273G>A c.(3271-3273)CCG>CCA p.P1091P NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1091 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGGTGCAGGGCGGGAGGCGGA 0.602 TSC22D1 8848 broad.mit.edu 37 13 45148388 45148388 + Missense_Mutation SNP G T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr13:45148388G>T uc001uzn.3 - 1 2314 c.1823C>A c.(1822-1824)TCT>TAT p.S608Y TSC22D1_uc001uzo.1_Intron NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 608 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) AGCCGCCTGAGAATATGGTAG 0.522 TUBGCP3 10426 broad.mit.edu 37 13 113176787 113176787 + Missense_Mutation SNP T C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr13:113176787T>C uc001vse.1 - 14 1779 c.1592A>G c.(1591-1593)CAG>CGG p.Q531R TUBGCP3_uc010tjq.1_Missense_Mutation_p.Q521R|TUBGCP3_uc001vsf.2_Missense_Mutation_p.Q531R NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 531 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) AATCTTCCCCTGAAATGCATT 0.423 ZNF828 283489 broad.mit.edu 37 13 115090500 115090500 + Missense_Mutation SNP C G G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr13:115090500C>G uc010ahb.2 + 3 1512 c.1183C>G c.(1183-1185)CCA>GCA p.P395A ZNF828_uc001vuv.2_Missense_Mutation_p.P395A|ZNF828_uc010tko.1_Missense_Mutation_p.P395A NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 395 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) GTCTGGCCCACCAGAACTCCG 0.557 AK7 122481 broad.mit.edu 37 14 96875256 96875256 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr14:96875256C>T uc001yfn.2 + 4 520 c.476C>T c.(475-477)GCG>GTG p.A159V NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 159 Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATGACTTGGGCGCGCTCCAAA 0.473 AHNAK2 113146 broad.mit.edu 37 14 105407228 105407228 + Missense_Mutation SNP G C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr14:105407228G>C uc010axc.1 - 7 14680 c.14560C>G c.(14560-14562)CCT>GCT p.P4854A AHNAK2_uc001ypx.2_Missense_Mutation_p.P4754A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4854 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGAGAAACAGGAATCATGGAA 0.483 NDN 4692 broad.mit.edu 37 15 23932352 23932352 + Missense_Mutation SNP T A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr15:23932352T>A uc001ywk.2 - 1 99 c.13A>T c.(13-15)AGT>TGT p.S5C NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 5 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) AGATCCTTACTTTGTTCTGAC 0.642 Prader-Willi_syndrome CHRFAM7A 89832 broad.mit.edu 37 15 30659651 30659651 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr15:30659651G>A uc001zdt.1 - 9 1256 c.690C>T c.(688-690)CAC>CAT p.H230H DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.H139H|CHRFAM7A_uc010azn.2_Silent_p.H139H NM_139320 NP_647536 Q494W8 CRFM7_HUMAN CHRNA7-FAM7A fusion isoform 1 230 integral to membrane|postsynaptic membrane extracellular ligand-gated ion channel activity skin(1) 1 all_lung(180;3.42e-11)|Breast(32;0.000153) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CGTCGGGGTCGTGGTGGTGGT 0.602 MNS1 55329 broad.mit.edu 37 15 56735891 56735893 + In_Frame_Del DEL TCT - - TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr15:56735891_56735893delTCT uc002adr.2 - 6 1011_1013 c.846_848delAGA c.(844-849)GAAGAT>GAT p.E282del MNS1_uc010bfo.2_In_Frame_Del_p.E150del|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 282 Potential.|Glu-rich. meiosis ovary(1) 1 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) TGCCATCCGATCTTCTTCTCTTT 0.369 ARID3B 10620 broad.mit.edu 37 15 74884098 74884098 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr15:74884098C>T uc002aye.2 + 7 1564 c.1363C>T c.(1363-1365)CGC>TGC p.R455C ARID3B_uc002ayd.2_Missense_Mutation_p.R455C|ARID3B_uc010bjs.1_Missense_Mutation_p.R160C NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B 455 REKLES. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 GGCCTTCCAGCGCAACTTTTT 0.647 SRRM2 23524 broad.mit.edu 37 16 2812074 2812074 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr16:2812074G>A uc002crk.2 + 11 2094 c.1545G>A c.(1543-1545)AGG>AGA p.R515R SRRM2_uc002crj.1_Silent_p.R419R|SRRM2_uc002crl.1_Silent_p.R515R|SRRM2_uc010bsu.1_Silent_p.R419R NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 515 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 AGTGGCGTAGGTCCAGGTCTG 0.617 ACSM2A 123876 broad.mit.edu 37 16 20476938 20476938 + Missense_Mutation SNP G A A rs141326932 TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr16:20476938G>A uc010bwe.2 + 4 516 c.277G>A c.(277-279)GCA>ACA p.A93T ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.A14T|ACSM2A_uc002dhf.3_Missense_Mutation_p.A93T|ACSM2A_uc002dhg.3_Missense_Mutation_p.A93T|ACSM2A_uc010vay.1_Missense_Mutation_p.A14T NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 93 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CAGCCAGCAGGCAGCCAACGT 0.612 ACSM2B 348158 broad.mit.edu 37 16 20570670 20570670 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr16:20570670C>T uc002dhj.3 - 4 487 c.277G>A c.(277-279)GCA>ACA p.A93T ACSM2B_uc002dhk.3_Missense_Mutation_p.A93T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A93T NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 93 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 ATGTTGGCTGCCTGCTGGCTG 0.602 ALOX12B 242 broad.mit.edu 37 17 7989533 7989533 + Silent SNP G T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:7989533G>T uc002gjy.1 - 2 414 c.153C>A c.(151-153)GGC>GGA p.G51G hsa-mir-4314|MI0015846_5'Flank NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 51 PLAT. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 CGGTGTACTGGCCCACCTAGG 0.647 Multiple Myeloma(8;0.094) SMCR7 125170 broad.mit.edu 37 17 18167942 18167942 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:18167942G>A uc002gst.2 + 4 1440 c.1229G>A c.(1228-1230)GGC>GAC p.G410D SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.G421D NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 410 integral to membrane protein binding 0 all_neural(463;0.228) CTGCTCATCGGCAGCCTGGAG 0.627 GPR179 440435 broad.mit.edu 37 17 36499092 36499092 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:36499092G>A uc002hpz.2 - 1 602 c.581C>T c.(580-582)ACC>ATC p.T194I NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 194 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CAGGGCAGGGGTGTCCAGGTC 0.642 KRTAP4-7 100132476 broad.mit.edu 37 17 39240819 39240819 + Missense_Mutation SNP C G G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:39240819C>G uc010wfn.1 + 1 361 c.361C>G c.(361-363)CTG>GTG p.L121V NM_033061 NP_149050 keratin associated protein 4-7 0 ctgctgctgcCTGCGTCCAGT 0.313 KRTAP4-7 100132476 broad.mit.edu 37 17 39240900 39240900 + Missense_Mutation SNP T G G rs61746948 TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:39240900T>G uc010wfn.1 + 1 442 c.442T>G c.(442-444)TTG>GTG p.L148V NM_033061 NP_149050 keratin associated protein 4-7 0 TCCCCGCCCCTTGTGCTGTGC 0.552 PPM1D 8493 broad.mit.edu 37 17 58740521 58740521 + Nonsense_Mutation SNP G T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:58740521G>T uc002iyt.1 + 6 1648 c.1426G>T c.(1426-1428)GAA>TAA p.E476* PPM1D_uc010ddm.1_RNA NM_003620 NP_003611 O15297 PPM1D_HUMAN protein phosphatase 1D 476 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) ACCACTTGAAGAAAATTGCGC 0.403 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) C17orf77 146723 broad.mit.edu 37 17 72588368 72588368 + Silent SNP T G G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:72588368T>G uc002jla.1 + 3 545 c.183T>G c.(181-183)GGT>GGG p.G61G CD300LD_uc002jkz.2_5'UTR NM_152460 NP_689673 Q96MU5 CQ077_HUMAN hypothetical protein LOC146723 61 extracellular region 0 CTCTCCTTGGTGATCACAGGT 0.537 EMILIN2 84034 broad.mit.edu 37 18 2892201 2892201 + Silent SNP G A A rs3810066 by1000genomes TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr18:2892201G>A uc002kln.2 + 4 2235 c.2076G>A c.(2074-2076)ACG>ACA p.T692T NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 692 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) AGGAATGCACGCAGGGGGTCC 0.572 DCC 1630 broad.mit.edu 37 18 50592528 50592528 + Missense_Mutation SNP C A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr18:50592528C>A uc002lfe.1 + 7 1840 c.1253C>A c.(1252-1254)CCT>CAT p.P418H DCC_uc010xdr.1_Missense_Mutation_p.P266H|DCC_uc010dpf.1_Missense_Mutation_p.P73H NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 418 Extracellular (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTCATTGTCCCTAAGCCTGGT 0.438 ZNF532 55205 broad.mit.edu 37 18 56587377 56587377 + Nonsense_Mutation SNP G T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr18:56587377G>T uc002lho.2 + 4 2405 c.1858G>T c.(1858-1860)GAG>TAG p.E620* ZNF532_uc002lhp.2_Nonsense_Mutation_p.E618*|ZNF532_uc010xeg.1_Nonsense_Mutation_p.E618*|ZNF532_uc002lhr.2_Nonsense_Mutation_p.E618*|ZNF532_uc002lhs.2_Nonsense_Mutation_p.E618* NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 620 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 CAAGTGCTTGGAGTGTGGGGA 0.537 MC4R 4160 broad.mit.edu 37 18 58039346 58039346 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr18:58039346C>T uc002lie.1 - 1 656 c.237G>A c.(235-237)ATG>ATA p.M79I NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 79 Cytoplasmic (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) TGAAAAAGTACATGGGTGAAT 0.438 ARID3A 1820 broad.mit.edu 37 19 964263 964263 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr19:964263G>A uc002lql.2 + 5 1072 c.782G>A c.(781-783)CGC>CAC p.R261H NM_005224 NP_005215 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT- like) 261 ARID. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGTGAACCGCATCCCCATC 0.418 FUT6 2528 broad.mit.edu 37 19 5832254 5832254 + Missense_Mutation SNP G C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr19:5832254G>C uc002mdf.1 - 4 851 c.325C>G c.(325-327)CAC>GAC p.H109D FUT6_uc002mdg.1_Missense_Mutation_p.H109D|FUT6_uc002mdh.1_Missense_Mutation_p.H109D|FUT6_uc010dul.1_Missense_Mutation_p.H109D NM_001040701 NP_001035791 P51993 FUT6_HUMAN fucosyltransferase 6 109 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 ACCTCTCGGTGGTGCACGATG 0.642 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr19:9204125G>A uc010xkj.1 + 1 205 c.205G>A c.(205-207)GTT>ATT p.V69I NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 CCTGTCCCTGGTTGATTTCTG 0.557 CYP2B6 1555 broad.mit.edu 37 19 41515999 41515999 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr19:41515999G>A uc002opr.1 + 6 930 c.923G>A c.(922-924)CGC>CAC p.R308H CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 308 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) ACCACTCTCCGCTACGGCTTC 0.552 FOXA3 3171 broad.mit.edu 37 19 46375889 46375889 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr19:46375889G>A uc002pdr.2 + 2 823 c.626G>A c.(625-627)CGC>CAC p.R209H NM_004497 NP_004488 P55318 FOXA3_HUMAN forkhead box A3 209 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1) 1 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) TACCTGCGCCGCCAGAAACGC 0.627 EHD3 30845 broad.mit.edu 37 2 31483729 31483729 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:31483729C>T uc002rnu.2 + 4 1464 c.856C>T c.(856-858)CCC>TCC p.P286S EHD3_uc010ymt.1_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 286 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding p.P286P(1) skin(2) 2 Acute lymphoblastic leukemia(172;0.155) CCAGAGTCTGCCCCGAAATGC 0.622 BIRC6 57448 broad.mit.edu 37 2 32727897 32727897 + Missense_Mutation SNP A T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:32727897A>T uc010ezu.2 + 48 9377 c.9243A>T c.(9241-9243)TTA>TTT p.L3081F NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3081 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CTGAGCCATTATTGTGGTTCA 0.313 SLC4A5 57835 broad.mit.edu 37 2 74477637 74477637 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:74477637C>T uc002sko.1 - 12 1488 c.1486G>A c.(1486-1488)GGT>AGT p.G496S SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.G496S|SLC4A5_uc010ffc.1_Missense_Mutation_p.G496S|SLC4A5_uc002skp.1_Missense_Mutation_p.G432S|SLC4A5_uc002sks.1_Missense_Mutation_p.G496S NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 496 Cytoplasmic (Potential).|Gly-rich. apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 CACAGGCCACCGAAGAACCTG 0.527 OREG0014716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IL18RAP 8807 broad.mit.edu 37 2 103040791 103040791 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:103040791C>T uc002tbx.2 + 5 980 c.496C>T c.(496-498)CTT>TTT p.L166F IL18RAP_uc010fiz.2_Missense_Mutation_p.L24F NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 166 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 gcaagacctacttcttgggag 0.343 TMEM87B 84910 broad.mit.edu 37 2 112865416 112865416 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:112865416G>A uc002thm.2 + 17 1945 c.1576G>A c.(1576-1578)GTA>ATA p.V526I NM_032824 NP_116213 Q96K49 TM87B_HUMAN transmembrane protein 87B precursor 526 integral to membrane 0 ATTCACAGATGTGTAAGTTAT 0.343 GCG 2641 broad.mit.edu 37 2 163005628 163005628 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:163005628G>A uc002ucc.2 - 2 160 c.61C>T c.(61-63)CGT>TGT p.R21C NM_002054 NP_002045 P01275 GLUC_HUMAN glucagon preproprotein 21 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity 0 Exenatide(DB01276)|Phentolamine(DB00692) TGAAGGGAACGTTGCCAGCTG 0.413 MYO3B 140469 broad.mit.edu 37 2 171243715 171243715 + Missense_Mutation SNP T C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:171243715T>C uc002ufy.2 + 14 1617 c.1474T>C c.(1474-1476)TTT>CTT p.F492L MYO3B_uc002ufv.2_Missense_Mutation_p.F479L|MYO3B_uc010fqb.1_Missense_Mutation_p.F479L|MYO3B_uc002ufz.2_Missense_Mutation_p.F492L|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 492 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 CTCGAGCCGTTTTGGAAAATA 0.433 ITGA4 3676 broad.mit.edu 37 2 182358131 182358131 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:182358131G>A uc002unu.2 + 11 1996 c.1233G>A c.(1231-1233)TCG>TCA p.S411S NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 411 FG-GAP 6.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATGGGATCTCGTCAACCTTCT 0.368 MYO1B 4430 broad.mit.edu 37 2 192141643 192141643 + Missense_Mutation SNP A T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:192141643A>T uc010fsg.2 + 2 277 c.22A>T c.(22-24)ACC>TCC p.T8S MYO1B_uc002usq.2_Missense_Mutation_p.T8S|MYO1B_uc002usr.2_Missense_Mutation_p.T8S|MYO1B_uc002uss.1_Missense_Mutation_p.T8S NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 8 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) GGAGGTGAAAACCTCACTTCT 0.433 SLC19A3 80704 broad.mit.edu 37 2 228560683 228560683 + Missense_Mutation SNP T C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:228560683T>C uc002vpi.2 - 4 1183 c.1094A>G c.(1093-1095)TAC>TGC p.Y365C SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.Y361C NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 365 Extracellular (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) ATTGGCTGTGTAATGCATGAG 0.443 CHRND 1144 broad.mit.edu 37 2 233394760 233394760 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:233394760G>A uc002vsw.2 + 7 735 c.731G>A c.(730-732)CGC>CAC p.R244H CHRND_uc010zmg.1_Missense_Mutation_p.R229H|CHRND_uc010fyc.2_Missense_Mutation_p.R117H|CHRND_uc010zmh.1_Intron NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 244 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) ATCATCCGCCGCAAGCCCCTC 0.607 SNED1 25992 broad.mit.edu 37 2 242004746 242004746 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:242004746G>A uc002wah.1 + 21 2745 c.2745G>A c.(2743-2745)GAG>GAA p.E915E SNED1_uc002wai.1_Silent_p.E150E|SNED1_uc002waj.1_Silent_p.E2E|SNED1_uc002wak.2_Silent_p.E2E NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN 6720455I24Rik homolog precursor 915 Fibronectin type-III 1. cell-matrix adhesion extracellular region calcium ion binding breast(1)|central_nervous_system(1) 2 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TCAAGATGGAGAGAGTGGAGG 0.607 ANGPT4 51378 broad.mit.edu 37 20 869018 869018 + Missense_Mutation SNP A G G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr20:869018A>G uc002wei.2 - 3 633 c.530T>C c.(529-531)CTG>CCG p.L177P ANGPT4_uc010zpn.1_Missense_Mutation_p.L171P NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 177 Potential. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 CTGGTTCTCCAGCTTGTTGGT 0.522 C20orf191 149934 broad.mit.edu 37 20 26084125 26084125 + Silent SNP T C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr20:26084125T>C uc002wvj.3 - 2 346 c.291A>G c.(289-291)CAA>CAG p.Q97Q NR_003678 SubName: Full=Putative uncharacterized protein ENSP00000323172; 0 AGACTTTTACTTGTTTCTTTT 0.214 DHX35 60625 broad.mit.edu 37 20 37632428 37632428 + Missense_Mutation SNP C A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr20:37632428C>A uc002xjh.2 + 11 900 c.889C>A c.(889-891)CAG>AAG p.Q297K DHX35_uc010zwa.1_Missense_Mutation_p.Q142K|DHX35_uc010zwb.1_Missense_Mutation_p.Q142K|DHX35_uc010zwc.1_Missense_Mutation_p.Q266K NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 297 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) GCTCATCGAGCAGGCTCGAGC 0.453 BACH1 571 broad.mit.edu 37 21 30693606 30693606 + Missense_Mutation SNP C G G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr21:30693606C>G uc002ynj.2 + 2 120 c.5C>G c.(4-6)TCT>TGT p.S2C BACH1_uc002ynk.2_Missense_Mutation_p.S2C|BACH1_uc002ynl.2_RNA NM_001186 NP_001177 O14867 BACH1_HUMAN BTB and CNC homology 1 transcription factor 2 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|liver(1) 2 TGCAGAATGTCTCTGAGTGAG 0.403 KRTAP12-3 386683 broad.mit.edu 37 21 46078019 46078019 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr21:46078019G>A uc002zft.2 + 1 171 c.123G>A c.(121-123)ACG>ACA p.T41T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198697 NP_941970 P60328 KR123_HUMAN keratin associated protein 12-3 41 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1) 1 TGAGCTGCACGCGCATTGTGT 0.637 PARVG 64098 broad.mit.edu 37 22 44581720 44581720 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr22:44581720C>T uc011aqe.1 + 4 536 c.112C>T c.(112-114)CGG>TGG p.R38W PARVG_uc010gzo.2_Missense_Mutation_p.R105W|PARVG_uc010gzp.2_RNA|PARVG_uc003bep.2_Missense_Mutation_p.R38W|PARVG_uc010gzq.1_RNA|PARVG_uc010gzr.1_RNA|PARVG_uc011aqf.1_Missense_Mutation_p.R38W|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA NM_001137605 NP_001131077 Q9HBI0 PARVG_HUMAN parvin, gamma 38 cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding 0 Ovarian(80;0.024)|all_neural(38;0.0299) ACCCACTTCCCGGAAGGACCC 0.607 SLC4A7 9497 broad.mit.edu 37 3 27478926 27478926 + Missense_Mutation SNP T G G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr3:27478926T>G uc003cdv.2 - 4 425 c.354A>C c.(352-354)GAA>GAC p.E118D SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.E123D|SLC4A7_uc011aww.1_Missense_Mutation_p.E127D|SLC4A7_uc011awx.1_Missense_Mutation_p.E127D|SLC4A7_uc011awy.1_Missense_Mutation_p.E123D|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.E123D|SLC4A7_uc011axb.1_Missense_Mutation_p.E127D|SLC4A7_uc010hfm.2_Missense_Mutation_p.E123D|SLC4A7_uc003cdw.2_Missense_Mutation_p.E118D NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 118 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 TGTAACACAGTTCATCCATTT 0.333 COL29A1 256076 broad.mit.edu 37 3 130159541 130159541 + Missense_Mutation SNP G A A rs146634521 by1000genomes TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr3:130159541G>A uc010htj.1 + 35 6853 c.6359G>A c.(6358-6360)CGT>CAT p.R2120H COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.R159H NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2120 VWFA 9.|Nonhelical region. axon guidance|cell adhesion collagen 0 GGCTCTACACGTAAGGATGAC 0.408 PIK3CA 5290 broad.mit.edu 37 3 178917478 178917478 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr3:178917478G>A uc003fjk.2 + 3 510 c.353G>A c.(352-354)GGT>GAT p.G118D NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 118 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G118D(6) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTATTAAAGGTTTTGCTATC 0.338 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) GABRA4 2557 broad.mit.edu 37 4 46930475 46930475 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:46930475C>T uc003gxg.2 - 9 1571 c.1432G>A c.(1432-1434)GTG>ATG p.V478M NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 478 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATCCAAACACGTGACGAGTA 0.488 C4orf35 85438 broad.mit.edu 37 4 71201240 71201240 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:71201240G>A uc003hff.2 + 1 570 c.484G>A c.(484-486)GTC>ATC p.V162I NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 162 flagellum calcium ion binding 0 all_hematologic(202;0.196) AACCTCTGAAGTCTCTGGCAC 0.413 SEC24B 10427 broad.mit.edu 37 4 110384778 110384778 + Silent SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:110384778G>A uc003hzk.2 + 2 910 c.855G>A c.(853-855)GCG>GCA p.A285A SEC24B_uc003hzl.2_Silent_p.A285A|SEC24B_uc011cfp.1_Silent_p.A316A|SEC24B_uc011cfq.1_Silent_p.A285A|SEC24B_uc011cfr.1_Silent_p.A285A NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 285 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TGGCTGTAGCGAACAACAACC 0.413 NAF1 92345 broad.mit.edu 37 4 164050096 164050096 + Missense_Mutation SNP G C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:164050096G>C uc003iqj.2 - 8 1632 c.1438C>G c.(1438-1440)CCA>GCA p.P480A NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 480 Pro-rich. 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) GAAgagggtggaggaggcagt 0.289 PALLD 23022 broad.mit.edu 37 4 169433085 169433085 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:169433085G>A uc011cjx.1 + 2 641 c.430G>A c.(430-432)GGT>AGT p.G144S PALLD_uc003iru.2_Missense_Mutation_p.G144S NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 144 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TGAAAAGCGTGGTGCAAAAAC 0.512 Pancreatic_Cancer_Familial_Clustering_of LRP2BP 55805 broad.mit.edu 37 4 186299262 186299262 + Missense_Mutation SNP A C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:186299262A>C uc003ixj.1 - 1 891 c.79T>G c.(79-81)TTT>GTT p.F27V LRP2BP_uc003ixk.1_5'UTR|LRP2BP_uc011ckr.1_Missense_Mutation_p.F27V NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN LRP2 binding protein 27 cytoplasm protein binding 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) CACTGGAAAAATTTTTGGTTT 0.378 MARVELD2 153562 broad.mit.edu 37 5 68737366 68737366 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr5:68737366C>T uc003jwq.2 + 7 1621 c.1562C>T c.(1561-1563)ACA>ATA p.T521I MARVELD2_uc010ixf.2_Missense_Mutation_p.T509I|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_RNA NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 isoform 1 521 Cytoplasmic (Potential). sensory perception of sound integral to membrane|tight junction 0 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) CAGGATCCTACATTTCTGGAA 0.318 FBN2 2201 broad.mit.edu 37 5 127728993 127728993 + Missense_Mutation SNP G T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr5:127728993G>T uc003kuu.2 - 10 1739 c.1300C>A c.(1300-1302)CCT>ACT p.P434T FBN2_uc003kuv.2_Missense_Mutation_p.P401T NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 434 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTGCCTCCAGGTCTGGAACCA 0.532 PDLIM4 8572 broad.mit.edu 37 5 131607724 131607724 + Silent SNP C G G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr5:131607724C>G uc003kwn.2 + 7 872 c.795C>G c.(793-795)ACC>ACG p.T265T uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Missense_Mutation_p.P226R|PDLIM4_uc003kwo.2_Silent_p.T373T NM_003687 NP_003678 P50479 PDLI4_HUMAN PDZ and LIM domain 4 isoform 1 265 LIM zinc-binding. protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCAGGGGCACCATCGTCAAGG 0.617 PCDHGA8 9708 broad.mit.edu 37 5 140774290 140774290 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr5:140774290C>T uc003lkd.1 + 1 2808 c.1910C>T c.(1909-1911)GCG>GTG p.A637V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A637V NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 637 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAGAGATGCGCTCAAGCAG 0.682 DSP 1832 broad.mit.edu 37 6 7580369 7580369 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:7580369G>A uc003mxp.1 + 23 4225 c.3946G>A c.(3946-3948)GCT>ACT p.A1316T DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1316 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCTGGAGGAGGCTGCCAAGAC 0.512 COL11A2 1302 broad.mit.edu 37 6 33137189 33137189 + Missense_Mutation SNP T C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:33137189T>C uc003ocx.1 - 51 3997 c.3769A>G c.(3769-3771)ACA>GCA p.T1257A COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.T1171A|COL11A2_uc003ocz.1_Missense_Mutation_p.T1150A NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1257 Triple-helical region. T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 6; AAA52034). cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 TCATCGCCTGTGGGGCCTTTA 0.627 KCNK17 89822 broad.mit.edu 37 6 39272395 39272395 + Missense_Mutation SNP C T T rs142227833 TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:39272395C>T uc003ooo.2 - 3 529 c.389G>A c.(388-390)CGC>CAC p.R130H KCNK17_uc003oop.2_Missense_Mutation_p.R130H NM_031460 NP_113648 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 130 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 GCAGAAGAGGCGGGCAGCCAT 0.612 PTK7 5754 broad.mit.edu 37 6 43109453 43109453 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:43109453C>T uc003oub.1 + 11 1864 c.1666C>T c.(1666-1668)CAT>TAT p.H556Y PTK7_uc003ouc.1_Missense_Mutation_p.H556Y|PTK7_uc003oud.1_Missense_Mutation_p.H516Y|PTK7_uc003oue.1_Missense_Mutation_p.H426Y|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.H564Y|PTK7_uc010jyj.1_Intron NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 556 Ig-like C2-type 6.|Extracellular (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TGGGACCCTGCATTTTGCCCG 0.582 TINAG 27283 broad.mit.edu 37 6 54191661 54191661 + Missense_Mutation SNP C T T rs115438249 byFrequency TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:54191661C>T uc003pcj.2 + 4 717 c.571C>T c.(571-573)CGC>TGC p.R191C TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 191 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TTTTAAATTTCGCCTTGGCAC 0.373 TINAG 27283 broad.mit.edu 37 6 54254704 54254704 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:54254704C>T uc003pcj.2 + 11 1558 c.1412C>T c.(1411-1413)ACG>ATG p.T471M TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 471 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GGCCAACTGACGAGTTCTGAT 0.403 RIMS1 22999 broad.mit.edu 37 6 72993805 72993805 + Missense_Mutation SNP G T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:72993805G>T uc003pga.2 + 24 3615 c.3538G>T c.(3538-3540)GCC>TCC p.A1180S RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Missense_Mutation_p.A561S|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Missense_Mutation_p.A481S|RIMS1_uc011dyd.1_Missense_Mutation_p.A547S|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Missense_Mutation_p.A37S|RIMS1_uc011dyf.1_Missense_Mutation_p.A37S NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1180 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) GAAAGGCACTGCCTCTGATGC 0.398 MAP3K7 6885 broad.mit.edu 37 6 91226312 91226312 + Nonsense_Mutation SNP C A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:91226312C>A uc003pnz.1 - 17 1891 c.1729G>T c.(1729-1731)GAA>TAA p.E577* MAP3K7_uc003pny.1_Nonsense_Mutation_p.E114*|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003pob.1_Nonsense_Mutation_p.E550*|MAP3K7_uc003poc.1_3'UTR NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 577 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CTTTTGTTTTCATCTAAAAGC 0.408 LAMA4 3910 broad.mit.edu 37 6 112496666 112496666 + Missense_Mutation SNP C A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:112496666C>A uc003pvu.2 - 11 1515 c.1206G>T c.(1204-1206)ATG>ATT p.M402I LAMA4_uc003pvv.2_Missense_Mutation_p.M395I|LAMA4_uc003pvt.2_Missense_Mutation_p.M395I NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 402 Potential.|Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CATAATAGAGCATCTTGTTGT 0.483 DSE 29940 broad.mit.edu 37 6 116757126 116757126 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:116757126G>A uc003pws.2 + 6 1689 c.1495G>A c.(1495-1497)GTG>ATG p.V499M DSE_uc011ebg.1_Missense_Mutation_p.V518M|DSE_uc003pwt.2_Missense_Mutation_p.V499M|DSE_uc003pwu.2_Missense_Mutation_p.V166M NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 499 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TTCTCCCTGGGTGGGTCAGGT 0.483 COL28A1 340267 broad.mit.edu 37 7 7412801 7412801 + Silent SNP T C C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:7412801T>C uc003src.1 - 32 2853 c.2736A>G c.(2734-2736)AAA>AAG p.K912K COL28A1_uc011jxe.1_Silent_p.K595K NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 912 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCAGTTTCTCTTTATCACGAG 0.443 C7orf57 136288 broad.mit.edu 37 7 48081010 48081010 + Missense_Mutation SNP C G G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:48081010C>G uc003toh.3 + 3 347 c.135C>G c.(133-135)AGC>AGG p.S45R C7orf57_uc003toi.3_5'UTR NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 45 ovary(1) 1 CAGGTCTCAGCAATTTGGGAG 0.537 EGFR 1956 broad.mit.edu 37 7 55221716 55221716 + Missense_Mutation SNP T A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:55221716T>A uc003tqk.2 + 7 1006 c.760T>A c.(760-762)TTC>ATC p.F254I EGFR_uc003tqh.2_Missense_Mutation_p.F254I|EGFR_uc003tqi.2_Missense_Mutation_p.F254I|EGFR_uc003tqj.2_Missense_Mutation_p.F254I|EGFR_uc010kzg.1_Missense_Mutation_p.F209I|EGFR_uc011kco.1_Missense_Mutation_p.F201I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 254 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.F254F(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTGCCGCAAATTCCGAGACGA 0.587 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) WBSCR17 64409 broad.mit.edu 37 7 71135089 71135089 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:71135089G>A uc003tvy.2 + 8 1399 c.1399G>A c.(1399-1401)GGG>AGG p.G467R WBSCR17_uc003tvz.2_Missense_Mutation_p.G166R NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 467 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CGTTGCTTACGGGGAGGTAAT 0.413 SAMD9 54809 broad.mit.edu 37 7 92733048 92733048 + Missense_Mutation SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:92733048C>T uc003umf.2 - 3 2619 c.2363G>A c.(2362-2364)CGT>CAT p.R788H SAMD9_uc003umg.2_Missense_Mutation_p.R788H NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 788 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTATTCCTGACGGTTCATTGC 0.378 TRIM56 81844 broad.mit.edu 37 7 100730794 100730794 + Silent SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:100730794C>T uc003uxq.2 + 3 432 c.201C>T c.(199-201)CCC>CCT p.P67P TRIM56_uc003uxr.2_Silent_p.P67P NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 67 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) CTGTGCCGCCCGAGGGTGTGG 0.677 RELN 5649 broad.mit.edu 37 7 103159906 103159906 + Missense_Mutation SNP G T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:103159906G>T uc003vca.2 - 49 7886 c.7726C>A c.(7726-7728)CAA>AAA p.Q2576K RELN_uc010liz.2_Missense_Mutation_p.Q2576K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2576 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGTAAAATTGGATGAACTCA 0.378 TAS2R41 259287 broad.mit.edu 37 7 143175728 143175728 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:143175728G>A uc003wdc.1 + 1 763 c.763G>A c.(763-765)GCA>ACA p.A255T uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 255 Helical; Name=6; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) CATTGATGCCGCAAAATTTAT 0.493 DLGAP2 9228 broad.mit.edu 37 8 1649565 1649565 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr8:1649565G>A uc003wpl.2 + 12 3018 c.2921G>A c.(2920-2922)CGG>CAG p.R974Q DLGAP2_uc003wpm.2_Missense_Mutation_p.R960Q NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 1053 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCCCAGACCCGGCTCTGAGGG 0.706 ADAM28 10863 broad.mit.edu 37 8 24199150 24199150 + Silent SNP G A A rs145453785 byFrequency TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr8:24199150G>A uc003xdy.2 + 16 1793 c.1710G>A c.(1708-1710)TCG>TCA p.S570S ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.S257S NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 570 Extracellular (Potential).|Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AAGGTGGGTCGGATAATTTGC 0.413 ARHGAP39 80728 broad.mit.edu 37 8 145771184 145771184 + Missense_Mutation SNP A G G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr8:145771184A>G uc003zdt.1 - 7 2525 c.1970T>C c.(1969-1971)CTC>CCC p.L657P ARHGAP39_uc011llk.1_Missense_Mutation_p.L657P|ARHGAP39_uc003zds.1_Missense_Mutation_p.L657P NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 657 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 ACAGGCAGCGAGGTCCTCAGA 0.672 FREM1 158326 broad.mit.edu 37 9 14784500 14784500 + Missense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr9:14784500G>A uc003zlm.2 - 24 4900 c.4310C>T c.(4309-4311)CCG>CTG p.P1437L FREM1_uc010mic.2_Intron NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1437 CSPG 10. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GCCATATCGCGGAGGGGAGGT 0.488 FOXD4L5 653427 broad.mit.edu 37 9 70177746 70177747 + In_Frame_Ins INS - GCC GCC TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr9:70177746_70177747insGCC uc010moc.2 - 1 1069_1070 c.237_238insGGC c.(235-240)insGGC p.79_80insG NM_001126334 NP_001119806 Q5VV16 FX4L5_HUMAN forkhead box D4-like 5 79_80 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 GGGTCACTCGGGCCGCCGCCGC 0.688 PHF8 23133 broad.mit.edu 37 X 53970579 53970579 + Silent SNP C T T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chrX:53970579C>T uc004dsu.2 - 20 2818 c.2745G>A c.(2743-2745)AAG>AAA p.K915K PHF8_uc004dst.2_Silent_p.K879K|PHF8_uc004dsv.2_Silent_p.K745K|PHF8_uc004dsw.2_Silent_p.K778K|PHF8_uc004dsx.2_Silent_p.K643K|PHF8_uc004dsy.2_Silent_p.K862K NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 915 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|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(3) 3 GCTGGGCCAGCTTTGCAGCTG 0.592 ITIH5L 347365 broad.mit.edu 37 X 54784130 54784130 + Nonsense_Mutation SNP G A A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chrX:54784130G>A uc004dtj.2 - 8 2407 c.2377C>T c.(2377-2379)CAA>TAA p.Q793* NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 793 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GCCCCAAGTTGGGGGTGCGAT 0.552 PCDH11Y 83259 broad.mit.edu 37 Y 4966471 4966471 + Silent SNP A G G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chrY:4966471A>G uc004fqo.2 + 2 1586 c.852A>G c.(850-852)ACA>ACG p.T284T PCDH11Y_uc010nwg.1_Silent_p.T273T|PCDH11Y_uc004fql.1_Silent_p.T273T|PCDH11Y_uc004fqm.1_Silent_p.T273T|PCDH11Y_uc004fqn.1_Silent_p.T284T|PCDH11Y_uc004fqp.1_Silent_p.T55T NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 284 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TTAAGGAGACAGAGATTGAAG 0.428