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 MED8 112950 broad.mit.edu 37 1 43851858 43851858 + Missense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr1:43851858G>A uc001cjg.3 - 6 581 c.533C>T c.(532-534)ACT>ATT p.T178I MED8_uc001cje.1_Missense_Mutation_p.T178I|MED8_uc001cjf.3_Missense_Mutation_p.T89I NM_201542 NP_963836 Q96G25 MED8_HUMAN mediator complex subunit 8 isoform 1 178 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAAGGCATTAGTGTCTGTAGG 0.542000 LY9 4063 broad.mit.edu 37 1 160783561 160783561 + Missense_Mutation SNP A A G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr1:160783561A>G uc001fwu.2 + 3 640 c.590A>G c.(589-591)CAT>CGT p.H197R LY9_uc010pjs.1_Missense_Mutation_p.H197R|LY9_uc001fwv.2_Missense_Mutation_p.H197R|LY9_uc001fww.2_Missense_Mutation_p.H197R|LY9_uc001fwx.2_Missense_Mutation_p.H197R|LY9_uc001fwy.1_Missense_Mutation_p.H99R|LY9_uc001fwz.2_5'Flank NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 197 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AGGGAACCCCATGCTTCTGAG 0.542000 PPP1R15B 84919 broad.mit.edu 37 1 204380537 204380537 + Missense_Mutation SNP C C G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr1:204380537C>G uc001hav.3 - 1 408 c.3G>C c.(1-3)ATG>ATC p.M1I NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 1 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) TCCCCGGCTCCATCTCCTTTT 0.642000 EXO1 9156 broad.mit.edu 37 1 242016726 242016726 + Silent SNP A A G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr1:242016726A>G uc001hzh.2 + 6 888 c.348A>G c.(346-348)CGA>CGG p.R116R EXO1_uc001hzi.2_Silent_p.R116R|EXO1_uc001hzj.2_Silent_p.R116R|EXO1_uc009xgq.2_Silent_p.R116R NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 116 meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CGGAAGCTCGAGAGTGTTTCA 0.423000 Direct_reversal_of_damage|Editing_and_processing_nucleases MTPAP 55149 broad.mit.edu 37 10 30615481 30615481 + Missense_Mutation SNP T T G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr10:30615481T>G uc001iva.3 - 5 927 c.864A>C c.(862-864)TTA>TTC p.L288F MTPAP_uc001ivb.3_Missense_Mutation_p.L418F NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 288 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 GGCACTCTCCTAACACAGACA 0.443000 CPN1 1369 broad.mit.edu 37 10 101829528 101829528 + Silent SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr10:101829528G>A uc001kql.2 - 3 779 c.519C>T c.(517-519)AAC>AAT p.N173N NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 173 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CGTACTTCTCGTTATAGTAGA 0.478000 CKAP5 9793 broad.mit.edu 37 11 46799806 46799806 + Missense_Mutation SNP C C A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr11:46799806C>A uc001ndi.1 - 22 2741 c.2631G>T c.(2629-2631)AGG>AGT p.R877S CKAP5_uc009ylg.1_Missense_Mutation_p.R763S|CKAP5_uc001ndj.1_Missense_Mutation_p.R877S NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 877 HEAT 5. cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 GGCCTTCTTTCCTAATCTTCC 0.358000 MMP20 9313 broad.mit.edu 37 11 102496027 102496027 + Silent SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr11:102496027G>A uc001phc.2 - 1 37 c.24C>T c.(22-24)GGC>GGT p.G8G NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 8 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) AGACAGCAAGGCCAGATGCAG 0.562000 MMP8 4317 broad.mit.edu 37 11 102584178 102584178 + Missense_Mutation SNP A A T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr11:102584178A>T uc001phe.2 - 10 1404 c.1305T>A c.(1303-1305)CAT>CAA p.H435Q MMP8_uc010rut.1_3'UTR|MMP8_uc010ruu.1_Missense_Mutation_p.H412Q NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 435 Hemopexin-like 4. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) CACTGAAGACATGGAAGAAAT 0.353000 DYNC2H1 79659 broad.mit.edu 37 11 103270478 103270478 + Missense_Mutation SNP A A T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr11:103270478A>T uc001pho.2 + 84 12388 c.12244A>T c.(12244-12246)AAT>TAT p.N4082Y DYNC2H1_uc001phn.1_Missense_Mutation_p.N4089Y|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4082 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGAACAATTTAATGCTATTCG 0.373000 FLI1 2313 broad.mit.edu 37 11 128680436 128680436 + Silent SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr11:128680436G>T uc010sbu.1 + 9 1253 c.912G>T c.(910-912)GGG>GGT p.G304G FLI1_uc010sbt.1_Silent_p.G111G|FLI1_uc010sbv.1_Silent_p.G271G|FLI1_uc009zci.2_Silent_p.G238G NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 304 ETS. hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CCTGGGAGGGGACCAACGGGG 0.622000 T EWSR1 Ewing sarcoma LRRK2 120892 broad.mit.edu 37 12 40671789 40671789 + Missense_Mutation SNP T T C TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr12:40671789T>C uc001rmg.3 + 17 2162 c.2041T>C c.(2041-2043)TCC>CCC p.S681P LRRK2_uc001rmh.1_Missense_Mutation_p.S303P NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 681 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCAAATGTCTTCCAATATCAT 0.343000 DBX2 440097 broad.mit.edu 37 12 45444623 45444623 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr12:45444623C>T uc001rok.1 - 1 260 c.88G>A c.(88-90)GGC>AGC p.G30S NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 30 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) TTGCCAAAGCCGGGCGCAGCG 0.711000 FOXN4 121643 broad.mit.edu 37 12 109719324 109719324 + Silent SNP C C A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr12:109719324C>A uc001toe.3 - 9 1287 c.1182G>T c.(1180-1182)CCG>CCT p.P394P FOXN4_uc009zvg.2_Silent_p.P191P|FOXN4_uc001tof.3_Silent_p.P214P NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 394 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 ovary(1)|lung(1) 2 GGTGGGGGAGCGGGCTGGGGC 0.647000 COL4A1 1282 broad.mit.edu 37 13 110861227 110861227 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr13:110861227C>T uc001vqw.3 - 12 784 c.662G>A c.(661-663)GGC>GAC p.G221D COL4A1_uc010agl.2_Missense_Mutation_p.G221D NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 221 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AAAACTTAAGCCCATTTGTCC 0.403000 SLC12A1 6557 broad.mit.edu 37 15 48527094 48527094 + Missense_Mutation SNP T T G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr15:48527094T>G uc001zwn.3 + 9 1324 c.1108T>G c.(1108-1110)TTT>GTT p.F370V SLC12A1_uc010uew.1_Missense_Mutation_p.F176V|SLC12A1_uc010bem.2_Missense_Mutation_p.F370V|SLC12A1_uc010uex.1_Missense_Mutation_p.F370V|SLC12A1_uc001zwq.3_Missense_Mutation_p.F141V|SLC12A1_uc001zwr.3_Missense_Mutation_p.F97V NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 370 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TGCAGAAAACTTTGGGCCACG 0.403000 SCNN1B 6338 broad.mit.edu 37 16 23366787 23366787 + Silent SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr16:23366787C>T uc002dln.2 + 4 929 c.753C>T c.(751-753)TTC>TTT p.F251F NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 251 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CCTGCCTATTCGGAGCTGAGC 0.493000 SLC5A2 6524 broad.mit.edu 37 16 31500611 31500611 + Silent SNP C C A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr16:31500611C>A uc002ecf.3 + 12 1636 c.1617C>A c.(1615-1617)CTC>CTA p.L539L SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 539 Helical; (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 GCTCTGGCCTCCTCACCCTCA 0.647000 ALOX12 239 broad.mit.edu 37 17 6902654 6902654 + Missense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr17:6902654G>A uc002gdx.3 + 6 729 c.676G>A c.(676-678)GAG>AAG p.E226K NM_000697 NP_000688 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 226 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding central_nervous_system(1) 1 GCAGGATGATGAGTTGTTCAG 0.552000 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr17:7578271T>C uc002gim.2 - 6 772 c.578A>G c.(577-579)CAT>CGT p.H193R TP53_uc002gig.1_Missense_Mutation_p.H193R|TP53_uc002gih.2_Missense_Mutation_p.H193R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61R|TP53_uc010cng.1_Missense_Mutation_p.H61R|TP53_uc002gii.1_Missense_Mutation_p.H61R|TP53_uc010cnh.1_Missense_Mutation_p.H193R|TP53_uc010cni.1_Missense_Mutation_p.H193R|TP53_uc002gij.2_Missense_Mutation_p.H193R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100R|TP53_uc002gio.2_Missense_Mutation_p.H61R|TP53_uc010vug.1_Missense_Mutation_p.H154R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 193 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGGATAAGATGCTGAGGAGG 0.562000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) NOS2 4843 broad.mit.edu 37 17 26105786 26105786 + Missense_Mutation SNP T T C TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr17:26105786T>C uc002gzu.2 - 11 1475 c.1211A>G c.(1210-1212)CAC>CGC p.H404R NOS2_uc010crh.1_Missense_Mutation_p.H404R|NOS2_uc010wab.1_Missense_Mutation_p.H404R NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 404 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GGCCAGCTTGTGCGTTTCCAG 0.562000 TBXA2R 6915 broad.mit.edu 37 19 3600596 3600596 + Missense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr19:3600596G>A uc002lyg.1 - 2 251 c.37C>T c.(37-39)CGG>TGG p.R13W TBXA2R_uc002lye.1_Missense_Mutation_p.R13W NM_001060 NP_001051 P21731 TA2R_HUMAN thromboxane A2 receptor isoform alpha 13 Extracellular (Potential). platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) TTTGTGGGCCGGAAACAGGGC 0.667000 SAFB 6294 broad.mit.edu 37 19 5654453 5654453 + Missense_Mutation SNP G G A rs147202286 TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr19:5654453G>A uc002mcf.2 + 13 1794 c.1741G>A c.(1741-1743)GGG>AGG p.G581R SAFB_uc002mcg.2_Missense_Mutation_p.G581R|SAFB_uc002mce.3_Missense_Mutation_p.G581R|SAFB_uc010xir.1_Missense_Mutation_p.G581R|SAFB_uc010xis.1_Missense_Mutation_p.G512R|SAFB_uc010xit.1_Missense_Mutation_p.G424R|SAFB_uc010xiu.1_Missense_Mutation_p.G380R NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 581 Interaction with POLR2A. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) AAAAACGTCCGGGTCCAAAGA 0.413000 MUC16 94025 broad.mit.edu 37 19 9057759 9057759 + Missense_Mutation SNP G G C TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr19:9057759G>C uc002mkp.2 - 3 29891 c.29687C>G c.(29686-29688)GCA>GGA p.A9896G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9898 Ser-rich.|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 ATAAAGGACTGCACTTGTTTC 0.473000 FAM129C 199786 broad.mit.edu 37 19 17641671 17641671 + Missense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr19:17641671G>A uc010xpr.1 + 3 394 c.256G>A c.(256-258)GGA>AGA p.G86R FAM129C_uc010xpq.1_Missense_Mutation_p.G86R|FAM129C_uc010xps.1_Missense_Mutation_p.G55R|FAM129C_uc010xpt.1_Intron NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 86 0 GGAGCCGACCGGAAGCCAGTT 0.632000 ZNF665 79788 broad.mit.edu 37 19 53669357 53669357 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr19:53669357C>T uc010eqm.1 - 4 486 c.386G>A c.(385-387)AGA>AAA p.R129K NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TGCAGCCCTTCTATCACGTTG 0.388000 PXDN 7837 broad.mit.edu 37 2 1643143 1643143 + Missense_Mutation SNP C C G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr2:1643143C>G uc002qxa.2 - 20 4068 c.4004G>C c.(4003-4005)AGA>ACA p.R1335T NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1335 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AAGAGACCGTCTGCCTCGGAA 0.498000 SP100 6672 broad.mit.edu 37 2 231379989 231379989 + Missense_Mutation SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr2:231379989G>T uc002vqt.2 + 25 2415 c.2274G>T c.(2272-2274)GAG>GAT p.E758D SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 758 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTAAAGGGGAGAAAAAAAAGA 0.418000 SCN11A 11280 broad.mit.edu 37 3 38941492 38941492 + Nonsense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr3:38941492G>A uc011ays.1 - 13 2114 c.1915C>T c.(1915-1917)CGA>TGA p.R639* NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 639 II. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTCCAGCCTCGGCGAAAGTAG 0.418000 HHATL 57467 broad.mit.edu 37 3 42735277 42735277 + Silent SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr3:42735277G>A uc003clw.2 - 11 1227 c.1080C>T c.(1078-1080)TCC>TCT p.S360S HHATL_uc003clx.2_Silent_p.S360S NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 360 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) GGATCACAGCGGAATGCTCCC 0.542000 IGSF11 152404 broad.mit.edu 37 3 118645024 118645024 + Silent SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr3:118645024C>T uc003ebw.2 - 4 751 c.504G>A c.(502-504)GAG>GAA p.E168E IGSF11_uc011biv.1_Silent_p.E168E|IGSF11_uc003ebx.2_Silent_p.E168E|IGSF11_uc003eby.2_Silent_p.E167E|IGSF11_uc003ebz.2_Silent_p.E167E|IGSF11_uc010hqs.2_Silent_p.E167E NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 168 Ig-like C2-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 GAATGCCTTCCTCTGAGCTAC 0.488000 ARHGAP31 57514 broad.mit.edu 37 3 119112366 119112366 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr3:119112366C>T uc003ecj.3 + 8 1466 c.934C>T c.(934-936)CGT>TGT p.R312C NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 312 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 TAACCTGGGACGTTCTGGATC 0.393000 TMCC1 23023 broad.mit.edu 37 3 129389972 129389972 + Missense_Mutation SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr3:129389972G>T uc003emz.3 - 5 1213 c.712C>A c.(712-714)CAG>AAG p.Q238K TMCC1_uc003emy.3_5'UTR|TMCC1_uc011blc.1_Missense_Mutation_p.Q59K|TMCC1_uc010htg.2_Missense_Mutation_p.Q124K NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 238 Potential. integral to membrane skin(1) 1 ATCTTCTGCTGCAGGTGAGCA 0.527000 REST 5978 broad.mit.edu 37 4 57797479 57797479 + Missense_Mutation SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr4:57797479G>T uc003hch.2 + 4 2802 c.2455G>T c.(2455-2457)GAT>TAT p.D819Y REST_uc003hci.2_Missense_Mutation_p.D819Y|REST_uc010ihf.2_Missense_Mutation_p.D493Y NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 819 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) TCTCCGAAAAGATAAAAAGGA 0.498000 ADAMTS12 81792 broad.mit.edu 37 5 33561157 33561157 + Missense_Mutation SNP C C A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr5:33561157C>A uc003jia.1 - 20 4263 c.4100G>T c.(4099-4101)GGC>GTC p.G1367V ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1282V NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1367 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CACTTTCCAGCCAGCACAGGG 0.527000 HNSCC(64;0.19) GPR98 84059 broad.mit.edu 37 5 89938526 89938526 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr5:89938526C>T uc003kju.2 + 12 2410 c.2314C>T c.(2314-2316)CCT>TCT p.P772S GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 772 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAATGATGACCCTGGGGGAGT 0.388000 PCDHGA1 56114 broad.mit.edu 37 5 140712464 140712464 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr5:140712464C>T uc003lji.1 + 1 2213 c.2213C>T c.(2212-2214)TCG>TTG p.S738L PCDHGA1_uc011dan.1_Missense_Mutation_p.S738L NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 738 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCCGGTTCGCACTTTGTG 0.642000 GPRIN1 114787 broad.mit.edu 37 5 176026581 176026581 + Missense_Mutation SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr5:176026581G>T uc003meo.1 - 2 430 c.255C>A c.(253-255)GAC>GAA p.D85E NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 85 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCTGGGGCCGTCAGAGCAGG 0.657000 CDK14 5218 broad.mit.edu 37 7 90747439 90747439 + Missense_Mutation SNP C C T rs145303395 TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr7:90747439C>T uc003uky.2 + 14 1576 c.1354C>T c.(1354-1356)CGG>TGG p.R452W CDK14_uc003ukz.1_Missense_Mutation_p.R434W|CDK14_uc010les.1_Missense_Mutation_p.R406W|CDK14_uc011khl.1_Missense_Mutation_p.R323W NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 452 cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 AGAAAGCATGCGGGCCTTTGG 0.393000 CPSF4 10898 broad.mit.edu 37 7 99051673 99051674 + Missense_Mutation DNP CC CC AA TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr7:99051673_99051674CC>AA uc003uqj.2 + 7 798_799 c.655_656CC>AA c.(655-657)CCG>AAG p.P219K PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.P194K|CPSF4_uc003uqk.2_Missense_Mutation_p.P193K|CPSF4_uc011kix.1_Missense_Mutation_p.P141K NM_006693 NP_006684 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 219 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCAGAGAACCCCGCAGGTCATC 0.554000 FAM110B 90362 broad.mit.edu 37 8 59059521 59059521 + Silent SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr8:59059521G>T uc003xtj.1 + 5 1612 c.732G>T c.(730-732)GTG>GTT p.V244V NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 244 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CCGACCCTGTGGAACCAGCTT 0.612000 TG 7038 broad.mit.edu 37 8 133900554 133900554 + Silent SNP G G A rs138731686 TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr8:133900554G>A uc003ytw.2 + 10 2543 c.2502G>A c.(2500-2502)CCG>CCA p.P834P NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 834 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ATGTCTTCCCGGTGCTGTCAC 0.522000 TNC 3371 broad.mit.edu 37 9 117808831 117808831 + Silent SNP A A C TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr9:117808831A>C uc004bjj.3 - 17 5345 c.4983T>G c.(4981-4983)TCT>TCG p.S1661S TNC_uc010mvf.2_Intron NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1661 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 CCAGTGGCTCAGACTGCTTTT 0.468000 P2RY8 286530 broad.mit.edu 37 X 1585140 1585140 + Silent SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chrX:1585140G>A uc004cpz.2 - 2 560 c.312C>T c.(310-312)TAC>TAT p.Y104Y NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 104 Helical; Name=3; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACATGTTTGCGTAAAAGGCCA 0.587000 T CRLF2 B-ALL|Downs associated ALL STARD8 9754 broad.mit.edu 37 X 67943490 67943490 + Missense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chrX:67943490G>A uc004dxa.2 + 12 2954 c.2582G>A c.(2581-2583)CGG>CAG p.R861Q STARD8_uc004dxb.2_Missense_Mutation_p.R941Q|STARD8_uc004dxc.3_Missense_Mutation_p.R861Q NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 861 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 CACCCCCTGCGGCTATGGAAG 0.667000 RGAG1 57529 broad.mit.edu 37 X 109695526 109695526 + Silent SNP T T C TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chrX:109695526T>C uc004eor.1 + 3 1927 c.1681T>C c.(1681-1683)TTG>CTG p.L561L RGAG1_uc011msr.1_Silent_p.L561L NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 561 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GGCCTCAGGATTGACATCTGC 0.498000 THOC2 57187 broad.mit.edu 37 X 122744807 122744807 + Missense_Mutation SNP A A G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chrX:122744807A>G uc004etu.2 - 38 4794 c.4762T>C c.(4762-4764)TCC>CCC p.S1588P THOC2_uc004etv.3_RNA NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1588 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TTGTCCGAGGACTTATGAGTA 0.403000 GABRQ 55879 broad.mit.edu 37 X 151808925 151808925 + Missense_Mutation SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chrX:151808925G>T uc004ffp.1 + 2 256 c.236G>T c.(235-237)GGA>GTA p.G79V NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 79 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCGAATTTTGGAGGTAAGGCA 0.483000 VIPAR 63894 broad.mit.edu 37 14 77910667 77910668 + Frame_Shift_Del DEL TC TC - TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr14:77910667_77910668delTC uc001xtt.1 - 9 859_860 c.521_522delGA c.(520-522)AGAfs p.R174fs VIPAR_uc001xtu.1_Frame_Shift_Del_p.R174fs|VIPAR_uc010tvj.1_Frame_Shift_Del_p.R125fs|VIPAR_uc001xtv.1_Frame_Shift_Del_p.R174fs NM_022067 NP_071350 Q9H9C1 VIPAR_HUMAN hypothetical protein LOC63894 174 endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent early endosome|late endosome|recycling endosome protein binding central_nervous_system(1) 1 AGGAGCGGAATCTCTCTAGTGA 0.391 MLL4 9757 broad.mit.edu 37 19 36229073 36229075 + In_Frame_Del DEL AGA AGA - TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr19:36229073_36229075delAGA uc010eei.2 + 37 7853_7855 c.7853_7855delAGA c.(7852-7857)GAGAAG>GAG p.K2619del NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 2619 SET. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GACAAGCGGGAGAAGTTCTACGA 0.606 ARID1A 8289 broad.mit.edu 37 1 27101266 27101266 + Frame_Shift_Del DEL T T - TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 g.chr1:27101265_27101265CT>C uc001bmv.1 + 17 4920 c.4547_4547CT>C c.(4546-4548)tctfs p.S1516fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.S1515fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S1133fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.S362fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1516 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGCACGGGCTCTGCCCCCCAG 0.592 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC"""