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 TAS1R3 83756 broad.mit.edu 37 1 1268156 1268156 + Silent SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr1:1268156C>T uc010nyk.1 + 3 1245 c.1245C>T c.(1243-1245)TGC>TGT p.C415C NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 415 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-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)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CCTCAGGCTGCCCCGCGCAGG 0.657000 PLEKHM2 23207 broad.mit.edu 37 1 16059105 16059105 + Splice_Site SNP A A C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr1:16059105A>C uc010obo.1 + 19 3033 c.2806_splice c.e19-2 p.E936_splice NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GGCTCTCCCTAGGAGTTCTCC 0.622000 USP48 84196 broad.mit.edu 37 1 22030758 22030758 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr1:22030758G>A uc001bfb.2 - 20 2750 c.2512C>T c.(2512-2514)CCC>TCC p.P838S USP48_uc001bfa.2_Missense_Mutation_p.P376S|USP48_uc010odq.1_Missense_Mutation_p.P850S|USP48_uc009vqc.2_Missense_Mutation_p.P772S|USP48_uc001bfc.2_Missense_Mutation_p.P838S|USP48_uc001bfd.1_5'UTR NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 838 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) AACTTACTGGGCTCAGAAATA 0.353000 ARID1A 8289 broad.mit.edu 37 1 27097694 27097694 + Nonsense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr1:27097694C>T uc001bmv.1 + 12 3656 c.3283C>T c.(3283-3285)CAG>TAG p.Q1095* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1095*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1095*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q712*|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1095 ARID. 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 nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 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) CTTGAAAAAGCAGTATATCCA 0.483000 Mis|N|F|S|D clear cell ovarian carcinoma|RCC LRRC7 57554 broad.mit.edu 37 1 70503977 70503977 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr1:70503977G>A uc001dep.2 + 19 2386 c.2356G>A c.(2356-2358)GCC>ACC p.A786T LRRC7_uc009wbg.2_Missense_Mutation_p.A70T|LRRC7_uc001deq.2_Missense_Mutation_p.A27T NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 786 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GGAAACCACAGCCGAGAATGC 0.493000 EXO1 9156 broad.mit.edu 37 1 242045261 242045261 + Missense_Mutation SNP A A T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr1:242045261A>T uc001hzh.2 + 14 2693 c.2153A>T c.(2152-2154)CAG>CTG p.Q718L EXO1_uc001hzi.2_Missense_Mutation_p.Q718L|EXO1_uc001hzj.2_Missense_Mutation_p.Q718L|EXO1_uc009xgq.2_Missense_Mutation_p.Q717L NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 718 Interaction with MSH2. 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) CAAAGTGACCAGACCTCCAAG 0.294000 Direct_reversal_of_damage|Editing_and_processing_nucleases MYO3A 53904 broad.mit.edu 37 10 26482184 26482184 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr10:26482184C>T uc001isn.2 + 32 4849 c.4489C>T c.(4489-4491)CGG>TGG p.R1497W MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1497 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 AAGACGACCCCGGAAACCCAA 0.378000 PANK1 53354 broad.mit.edu 37 10 91371722 91371722 + Nonsense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr10:91371722C>A uc001kgp.1 - 2 943 c.787G>T c.(787-789)GAG>TAG p.E263* PANK1_uc001kgn.1_Nonsense_Mutation_p.E38*|PANK1_uc001kgo.1_Nonsense_Mutation_p.E38*|PANK1_uc009xtu.1_Nonsense_Mutation_p.E65* NM_148977 NP_683878 Q8TE04 PANK1_HUMAN pantothenate kinase 1 isoform alpha 263 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity 0 Bezafibrate(DB01393) TCCTCTTGCTCCTCTTCGGCT 0.468000 CTNND1 1500 broad.mit.edu 37 11 57575682 57575682 + Nonsense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr11:57575682C>A uc001nmc.3 + 13 2580 c.2009C>A c.(2008-2010)TCA>TAA p.S670* CTNND1_uc001nlh.1_Nonsense_Mutation_p.S670*|CTNND1_uc001nlu.3_Nonsense_Mutation_p.S563*|CTNND1_uc001nlt.3_Nonsense_Mutation_p.S563*|CTNND1_uc001nls.3_Nonsense_Mutation_p.S563*|CTNND1_uc001nlw.3_Nonsense_Mutation_p.S563*|CTNND1_uc001nmf.3_Nonsense_Mutation_p.S670*|CTNND1_uc001nmd.3_Nonsense_Mutation_p.S616*|CTNND1_uc001nlk.3_Nonsense_Mutation_p.S616*|CTNND1_uc001nme.3_Nonsense_Mutation_p.S664*|CTNND1_uc001nll.3_Nonsense_Mutation_p.S610*|CTNND1_uc001nmg.3_Nonsense_Mutation_p.S610*|CTNND1_uc001nlj.3_Nonsense_Mutation_p.S610*|CTNND1_uc001nlr.3_Nonsense_Mutation_p.S610*|CTNND1_uc001nlp.3_Nonsense_Mutation_p.S610*|CTNND1_uc001nlx.3_Nonsense_Mutation_p.S347*|CTNND1_uc001nlz.3_Nonsense_Mutation_p.S347*|CTNND1_uc009ymn.2_Nonsense_Mutation_p.S341*|CTNND1_uc001nlm.3_Nonsense_Mutation_p.S664*|CTNND1_uc001nly.3_Nonsense_Mutation_p.S341*|CTNND1_uc001nmb.3_Nonsense_Mutation_p.S341*|CTNND1_uc001nma.3_Nonsense_Mutation_p.S341*|CTNND1_uc001nmi.3_Nonsense_Mutation_p.S569*|CTNND1_uc001nmh.3_Nonsense_Mutation_p.S664*|CTNND1_uc001nlq.3_Nonsense_Mutation_p.S569*|CTNND1_uc001nln.3_Nonsense_Mutation_p.S664*|CTNND1_uc001nli.3_Nonsense_Mutation_p.S664*|CTNND1_uc001nlo.3_Nonsense_Mutation_p.S563*|CTNND1_uc001nlv.3_Nonsense_Mutation_p.S563* NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 670 ARM 7. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) ATATACATCTCACTTCTTAAG 0.483000 WNK1 65125 broad.mit.edu 37 12 939261 939261 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr12:939261G>A uc001qio.3 + 4 1753 c.1246G>A c.(1246-1248)GCT>ACT p.A416T WNK1_uc001qip.3_Missense_Mutation_p.A416T NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 416 Protein kinase. intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GCTTGAGATGGCTACATCTGA 0.458000 CD163 9332 broad.mit.edu 37 12 7651576 7651576 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr12:7651576C>G uc001qsz.3 - 4 794 c.666G>C c.(664-666)TGG>TGC p.W222C CD163_uc001qta.3_Missense_Mutation_p.W222C|CD163_uc009zfw.2_Missense_Mutation_p.W222C NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 222 SRCR 2.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 GATCATCAAACCAGATTGGTC 0.428000 ADAMTS20 80070 broad.mit.edu 37 12 43771289 43771289 + Missense_Mutation SNP T T G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr12:43771289T>G uc010skx.1 - 32 4874 c.4874A>C c.(4873-4875)AAG>ACG p.K1625T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1625 TSP type-1 14. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCGATGGAGCTTATGTTTCTT 0.403000 MON2 23041 broad.mit.edu 37 12 62943575 62943575 + Missense_Mutation SNP G G C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr12:62943575G>C uc001sre.2 + 23 3272 c.2881G>C c.(2881-2883)GAA>CAA p.E961Q MON2_uc009zqj.2_Missense_Mutation_p.E961Q|MON2_uc010ssl.1_Missense_Mutation_p.E889Q|MON2_uc010ssm.1_Missense_Mutation_p.E938Q|MON2_uc010ssn.1_Missense_Mutation_p.E961Q|MON2_uc001srf.2_Missense_Mutation_p.E724Q NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 962 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CCATAACCAAGAACTCAATAT 0.343000 BTBD11 121551 broad.mit.edu 37 12 108010928 108010928 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr12:108010928G>A uc001tmk.1 + 8 2585 c.2064G>A c.(2062-2064)TCG>TCA p.S688S BTBD11_uc009zut.1_Silent_p.S688S|BTBD11_uc001tmj.2_Silent_p.S688S|BTBD11_uc001tml.1_Silent_p.S225S NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 688 ANK 3. integral to membrane DNA binding skin(2)|ovary(1) 3 AGAACTACTCGGAAACACCCC 0.617000 CCDC60 160777 broad.mit.edu 37 12 119926657 119926657 + Silent SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr12:119926657C>T uc001txe.2 + 5 1008 c.543C>T c.(541-543)ACC>ACT p.T181T uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 181 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CTGTGATCACCTGCTGGAACC 0.547000 HNF1A 6927 broad.mit.edu 37 12 121435302 121435302 + Missense_Mutation SNP T T G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr12:121435302T>G uc001tzg.2 + 7 1358 c.1335T>G c.(1333-1335)AGT>AGG p.S445R HNF1A_uc001tzf.2_Missense_Mutation_p.S445R|HNF1A_uc010szn.1_Missense_Mutation_p.S445R NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 445 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGGCACAGAGTGTGCCGGTCA 0.662000 Hepatic_Adenoma_Familial_Clustering_of FRY 10129 broad.mit.edu 37 13 32653026 32653026 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr13:32653026G>A uc001utx.2 + 2 622 c.126G>A c.(124-126)ACG>ACA p.T42T FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 42 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTTCTGGCACGCACAGGGAGA 0.478000 SLITRK5 26050 broad.mit.edu 37 13 88328641 88328641 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr13:88328641G>A uc001vln.2 + 2 1217 c.998G>A c.(997-999)GGG>GAG p.G333E SLITRK5_uc010tic.1_Missense_Mutation_p.G92E NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 333 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCCCCTAAGGGGACTCGCCAA 0.587000 TEP1 7011 broad.mit.edu 37 14 20852247 20852247 + Missense_Mutation SNP T T C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr14:20852247T>C uc001vxe.2 - 24 3524 c.3484A>G c.(3484-3486)AGG>GGG p.R1162G TEP1_uc010ahk.2_Missense_Mutation_p.R512G|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.R1054G|TEP1_uc010tlh.1_5'Flank NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1162 NACHT. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGGCTCAGCCTTCCGTGGGGC 0.652000 CLEC14A 161198 broad.mit.edu 37 14 38724436 38724436 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr14:38724436G>A uc001wum.1 - 1 1139 c.792C>T c.(790-792)GAC>GAT p.D264D NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 264 Extracellular (Potential).|EGF-like. integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CTCCCAAGTCGTCTAGGCAGT 0.637000 HSP90AA1 3320 broad.mit.edu 37 14 102551035 102551035 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr14:102551035C>T uc001yku.3 - 5 1154 c.964G>A c.(964-966)GAT>AAT p.D322N HSP90AA1_uc001ykv.3_Missense_Mutation_p.D444N|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D143N|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D311N NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 322 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) GCCAAGTGATCTTCCCAGTCA 0.428000 AHNAK2 113146 broad.mit.edu 37 14 105415147 105415147 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr14:105415147G>A uc010axc.1 - 7 6761 c.6641C>T c.(6640-6642)GCT>GTT p.A2214V AHNAK2_uc001ypx.2_Missense_Mutation_p.A2114V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2214 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) CACCTGGCCAGCCTGGACCTT 0.637000 ABCA3 21 broad.mit.edu 37 16 2326738 2326738 + Silent SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr16:2326738C>T uc002cpy.1 - 33 5764 c.5052G>A c.(5050-5052)TCG>TCA p.S1684S ABCA3_uc010bsk.1_Silent_p.S1626S NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1684 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CCTGTTCCAGCGAGATCTGGC 0.597000 ABCA3 21 broad.mit.edu 37 16 2331442 2331442 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr16:2331442G>A uc002cpy.1 - 27 4816 c.4104C>T c.(4102-4104)ATC>ATT p.I1368I ABCA3_uc010bsk.1_Silent_p.I1310I NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1368 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) TGGGGGCCAGGATGCGGGTCC 0.567000 BCL7C 9274 broad.mit.edu 37 16 30903924 30903924 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr16:30903924C>T uc002dzv.2 - 4 559 c.425G>A c.(424-426)CGG>CAG p.R142Q BCL7C_uc002dzt.1_Missense_Mutation_p.R142Q|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank NM_004765 NP_004756 Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 142 Pro-rich. apoptosis 0 Colorectal(24;0.198) TTGGCCCAGCCGTGGGGGCTG 0.642000 ARMC5 79798 broad.mit.edu 37 16 31476027 31476027 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr16:31476027G>A uc002ecc.2 + 4 2212 c.1683G>A c.(1681-1683)CCG>CCA p.P561P ARMC5_uc010vfn.1_Silent_p.P656P|ARMC5_uc010vfo.1_Silent_p.P593P|ARMC5_uc002eca.3_Silent_p.P561P|ARMC5_uc010vfp.1_Silent_p.P369P|ARMC5_uc002ecb.2_Silent_p.P561P NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 561 binding pancreas(1) 1 CACCGGGCCCGCCCAGCCCAC 0.701000 COX4I1 1327 broad.mit.edu 37 16 85839345 85839345 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr16:85839345G>A uc002fje.2 + 4 412 c.248G>A c.(247-249)CGC>CAC p.R83H COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.R83H|COX4I1_uc010vom.1_Missense_Mutation_p.R50H NM_001861 NP_001852 P13073 COX41_HUMAN cytochrome c oxidase subunit IV isoform 1 83 respiratory electron transport chain mitochondrial inner membrane|nucleus cytochrome-c oxidase activity|protein binding lung(1) 1 Renal(780;0.228) CCAGTGTATCGCATTAAGTTC 0.537000 CAMKK1 84254 broad.mit.edu 37 17 3787704 3787704 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr17:3787704G>A uc002fwt.2 - 3 472 c.378C>T c.(376-378)AAC>AAT p.N126N CAMKK1_uc002fwu.2_Silent_p.N126N|CAMKK1_uc002fwv.2_Silent_p.N126N NM_172206 NP_757343 Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase 1 126 synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.N126N(1) ovary(1) 1 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) GCTTGTACTGGTTCAGCTGCA 0.612000 RNF167 26001 broad.mit.edu 37 17 4848302 4848302 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr17:4848302C>G uc002fzq.2 + 11 1460 c.1044C>G c.(1042-1044)ATC>ATG p.I348M RNF167_uc002fzr.2_Missense_Mutation_p.I348M|RNF167_uc002fzs.2_Missense_Mutation_p.I348M|RNF167_uc002fzt.2_Missense_Mutation_p.I348M|RNF167_uc002fzu.2_Missense_Mutation_p.I347M|RNF167_uc002fzv.2_Missense_Mutation_p.I313M|RNF167_uc002fzx.2_Missense_Mutation_p.I312M|RNF167_uc002fzy.2_Missense_Mutation_p.I147M NM_015528 NP_056343 Q9H6Y7 RN167_HUMAN ring finger protein 167 precursor 348 negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 CCCCTGTTATCCTGGTCTAAT 0.552000 CCR7 1236 broad.mit.edu 37 17 38711207 38711207 + Silent SNP G G A rs116263918 byFrequency TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr17:38711207G>A uc002huw.2 - 3 987 c.924C>T c.(922-924)TAC>TAT p.Y308Y NM_001838 NP_001829 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 precursor 308 Extracellular (Potential). cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1) 1 Breast(137;0.000496) AGGTGACGTCGTAGGCGATGT 0.567000 BCAS3 54828 broad.mit.edu 37 17 59155713 59155713 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr17:59155713C>T uc002iyv.3 + 22 2304 c.2195C>T c.(2194-2196)ACT>ATT p.T732I BCAS3_uc002iyu.3_Missense_Mutation_p.T717I|BCAS3_uc002iyw.3_Missense_Mutation_p.T713I|BCAS3_uc002iyy.3_Missense_Mutation_p.T488I|BCAS3_uc002iyz.3_Missense_Mutation_p.T286I|BCAS3_uc002iza.3_Missense_Mutation_p.T271I NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 732 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GTAACACACACTGGACCCCAT 0.443000 MIB1 57534 broad.mit.edu 37 18 19444574 19444574 + Missense_Mutation SNP A A T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr18:19444574A>T uc002ktq.2 + 21 2968 c.2968A>T c.(2968-2970)AGT>TGT p.S990C MIB1_uc002ktp.2_Missense_Mutation_p.S629C NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 990 RING-type 3. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) AGACCGCATGAGTGAATGTCC 0.408000 FHOD3 80206 broad.mit.edu 37 18 34340633 34340633 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr18:34340633G>A uc002kzt.1 + 22 4009 c.3912G>A c.(3910-3912)GCG>GCA p.A1304A FHOD3_uc002kzs.1_Silent_p.A1321A|FHOD3_uc010dmz.1_Silent_p.A1036A|FHOD3_uc010dnb.1_Intron NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1304 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TGAGCTATGCGGAGGACGCGG 0.652000 UHRF1 29128 broad.mit.edu 37 19 4929291 4929291 + Missense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr19:4929291C>A uc002mbo.2 + 3 379 c.211C>A c.(211-213)CTC>ATC p.L71I UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.L84I NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 71 Ubiquitin-like. cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) CACCATCCAGCTCCTGGTCCG 0.637000 DHPS 1725 broad.mit.edu 37 19 12790510 12790510 + Missense_Mutation SNP T T A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr19:12790510T>A uc002muh.1 - 4 615 c.518A>T c.(517-519)AAT>ATT p.N173I DHPS_uc002muf.1_Missense_Mutation_p.N50I|DHPS_uc002mug.1_Missense_Mutation_p.N131I|DHPS_uc002mui.1_Missense_Mutation_p.N173I|DHPS_uc002muj.1_Missense_Mutation_p.N173I|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA NM_001930 NP_001921 P49366 DHYS_HUMAN deoxyhypusine synthase isoform a 173 peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1) 1 Sulfadoxine(DB01299) GTAATTCTCATTGGGCACCAG 0.592000 CYP2S1 29785 broad.mit.edu 37 19 41700606 41700606 + Missense_Mutation SNP A A T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr19:41700606A>T uc002opw.2 + 2 390 c.335A>T c.(334-336)GAT>GTT p.D112V CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Missense_Mutation_p.M1L NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, 112 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 GGGACTTTTGATGGCCATGGT 0.473000 CEACAM5 1048 broad.mit.edu 37 19 42219758 42219758 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr19:42219758C>T uc002ork.2 + 4 1014 c.893C>T c.(892-894)ACG>ATG p.T298M CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Missense_Mutation_p.T298M|CEACAM5_uc002orl.2_Missense_Mutation_p.T298M NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 298 Ig-like 3. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GGATCCTATACGTGCCAAGCC 0.473000 ZNF221 7638 broad.mit.edu 37 19 44470470 44470470 + Silent SNP T T C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr19:44470470T>C uc002oxx.2 + 6 1144 c.816T>C c.(814-816)CAT>CAC p.H272H ZNF221_uc010ejb.1_Silent_p.H272H|ZNF221_uc010xws.1_Silent_p.H272H NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 272 C2H2-type 4; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) TTAATGTTCATTGCAAATTGC 0.413000 MYBPC2 4606 broad.mit.edu 37 19 50958504 50958504 + Silent SNP T T C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr19:50958504T>C uc002psf.2 + 19 2205 c.2154T>C c.(2152-2154)GCT>GCC p.A718A NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 718 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CCGTCAATGCTATAGGGGTCT 0.483000 C2orf86 51057 broad.mit.edu 37 2 63631623 63631623 + Missense_Mutation SNP G G C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr2:63631623G>C uc002sch.2 - 10 1441 c.995C>G c.(994-996)ACC>AGC p.T332S C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.T173S|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.T140S|C2orf86_uc002sci.1_Missense_Mutation_p.T308S|C2orf86_uc010fcr.1_Missense_Mutation_p.T222S NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 332 WD 1. cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 TGGTATTCTGGTGACTGACAC 0.443000 TUBA3E 112714 broad.mit.edu 37 2 130951688 130951688 + Nonsense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr2:130951688G>A uc002tqv.2 - 4 828 c.727C>T c.(727-729)CGA>TGA p.R243* NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 243 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) CCATCAAATCGCAGGGAGGCC 0.582000 FAM123C 205147 broad.mit.edu 37 2 131520836 131520836 + Missense_Mutation SNP G G C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr2:131520836G>C uc002trw.2 + 2 1381 c.1191G>C c.(1189-1191)GAG>GAC p.E397D FAM123C_uc010fmv.2_Missense_Mutation_p.E397D|FAM123C_uc010fms.1_Missense_Mutation_p.E397D|FAM123C_uc010fmt.1_Missense_Mutation_p.E397D|FAM123C_uc010fmu.1_Missense_Mutation_p.E397D NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 397 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GACTTGAGGAGGACAAGAAGG 0.622000 RAPGEF4 11069 broad.mit.edu 37 2 173898667 173898667 + Missense_Mutation SNP T T A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr2:173898667T>A uc002uhv.3 + 27 2862 c.2675T>A c.(2674-2676)TTC>TAC p.F892Y RAPGEF4_uc002uhw.3_Missense_Mutation_p.F748Y NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 892 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) TTCAAGAAGTTCTATGCGGAG 0.348000 VWC2L 402117 broad.mit.edu 37 2 215278974 215278974 + Silent SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr2:215278974C>T uc002vet.2 + 2 187 c.57C>T c.(55-57)GTC>GTT p.V19V VWC2L_uc010zjl.1_Silent_p.V19V NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 19 extracellular region 0 CTGGATTGGTCACCTCTGCTG 0.433000 ARPC2 10109 broad.mit.edu 37 2 219110154 219110154 + Silent SNP A A G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr2:219110154A>G uc002vhd.2 + 8 673 c.561A>G c.(559-561)GAA>GAG p.E187E ARPC2_uc002vhe.2_Silent_p.E187E|ARPC2_uc002vhf.2_Silent_p.E73E NM_152862 NP_690601 O15144 ARPC2_HUMAN actin related protein 2/3 complex subunit 2 187 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton ovary(1) 1 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) AGTTCAAAGAAGGACGCAGAG 0.517000 ELMO2 63916 broad.mit.edu 37 20 45003173 45003173 + Splice_Site SNP A A T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr20:45003173A>T uc002xrt.1 - 14 1380 c.1170_splice c.e14+1 p.R390_splice ELMO2_uc010zxq.1_Splice_Site_p.R122_splice|ELMO2_uc002xrs.1_Splice_Site_p.R137_splice|ELMO2_uc002xru.1_Splice_Site_p.R390_splice|ELMO2_uc010zxr.1_Splice_Site_p.R402_splice|ELMO2_uc010zxs.1_Splice_Site_p.R207_splice|ELMO2_uc002xrv.1_Splice_Site_p.R109_splice|ELMO2_uc002xrw.2_Splice_Site_p.R207_splice NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) CCCTGCCTTTACCCGGATGTA 0.542000 SNAI1 6615 broad.mit.edu 37 20 48600433 48600433 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr20:48600433C>G uc002xuz.2 + 2 225 c.155C>G c.(154-156)CCC>CGC p.P52R NM_005985 NP_005976 O95863 SNAI1_HUMAN snail 1 homolog 52 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) ATCCTCAACCCCACCGCCTCG 0.637000 MOCS3 27304 broad.mit.edu 37 20 49576176 49576176 + Missense_Mutation SNP G G T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr20:49576176G>T uc002xvy.1 + 1 814 c.797G>T c.(796-798)GGT>GTT p.G266V DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 266 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity skin(2)|ovary(1) 3 ATCGCTGCGGGTCTGGGCCCC 0.637000 SON 6651 broad.mit.edu 37 21 34918589 34918589 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr21:34918589G>A uc002yse.1 + 2 197 c.148G>A c.(148-150)GCT>ACT p.A50T SON_uc002ysb.1_Missense_Mutation_p.A50T|SON_uc002ysc.2_Missense_Mutation_p.A50T|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Missense_Mutation_p.A50T NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 50 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GGGTGATGCAGCTGCCTCTGC 0.428000 DYRK1A 1859 broad.mit.edu 37 21 38877823 38877823 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr21:38877823G>A uc002ywk.2 + 9 1552 c.1477G>A c.(1477-1479)GTA>ATA p.V493I DYRK1A_uc002ywi.2_Missense_Mutation_p.V493I|DYRK1A_uc002ywj.2_Missense_Mutation_p.V484I|DYRK1A_uc002ywl.2_Missense_Mutation_p.V493I|DYRK1A_uc002ywm.2_Missense_Mutation_p.V493I|DYRK1A_uc011aei.1_Missense_Mutation_p.V254I NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 493 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 AAGTAATAGTGTATCTACAAG 0.468000 NIPSNAP1 8508 broad.mit.edu 37 22 29956772 29956772 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr22:29956772G>A uc003afx.3 - 8 730 c.657C>T c.(655-657)GGC>GGT p.G219G NIPSNAP1_uc011akp.1_Silent_p.G199G NM_003634 NP_003625 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 219 p.?(1) skin(1) 1 AGAAGAAGCCGCCCACTGCCT 0.557000 PKDREJ 10343 broad.mit.edu 37 22 46657925 46657925 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr22:46657925C>G uc003bhh.2 - 1 1295 c.1295G>C c.(1294-1296)AGA>ACA p.R432T NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 432 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AATCACCATTCTGAAGAAATA 0.502000 MYRIP 25924 broad.mit.edu 37 3 40251427 40251427 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr3:40251427G>A uc003cka.2 + 11 1883 c.1748G>A c.(1747-1749)CGG>CAG p.R583Q MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.R583Q|MYRIP_uc010hhw.2_Missense_Mutation_p.R494Q|MYRIP_uc011ayz.1_Missense_Mutation_p.R396Q|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 583 Actin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GAGGAGAAACGGAGAAACAGG 0.478000 ZPLD1 131368 broad.mit.edu 37 3 102171950 102171950 + Silent SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr3:102171950C>A uc003dvs.1 + 10 1176 c.294C>A c.(292-294)CTC>CTA p.L98L ZPLD1_uc003dvt.1_Silent_p.L114L|ZPLD1_uc011bhg.1_Silent_p.L98L NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 98 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 TCATCAATCTCAGCACCTTGG 0.448000 MYLK 4638 broad.mit.edu 37 3 123419688 123419688 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr3:123419688C>T uc003ego.2 - 18 2909 c.2627G>A c.(2626-2628)CGC>CAC p.R876H MYLK_uc011bjw.1_Missense_Mutation_p.R876H|MYLK_uc003egp.2_Missense_Mutation_p.R807H|MYLK_uc003egq.2_Missense_Mutation_p.R876H|MYLK_uc003egr.2_Missense_Mutation_p.R807H|MYLK_uc003egs.2_Missense_Mutation_p.R700H|MYLK_uc003egt.2_Missense_Mutation_p.R67H NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 876 5 X 28 AA approximate tandem repeats.|1-1. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CGTCTCCACGCGCCTCTTCAG 0.642000 PIK3CA 5290 broad.mit.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A rs121913284 TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr3:178921553T>A uc003fjk.2 + 5 1192 c.1035T>A c.(1033-1035)AAT>AAA p.N345K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 345 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.N345K(29)|p.N345I(2)|p.N345S(1) 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) CCTACGTGAATGTAAATATTC 0.308000 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) LEPREL1 55214 broad.mit.edu 37 3 189690711 189690711 + Missense_Mutation SNP T T G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr3:189690711T>G uc011bsk.1 - 11 2039 c.1651A>C c.(1651-1653)ACT>CCT p.T551P LEPREL1_uc003fsg.2_Missense_Mutation_p.T370P NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 551 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AAATACAGAGTTGAGTTCAGC 0.433000 BDH1 622 broad.mit.edu 37 3 197238850 197238850 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr3:197238850G>A uc003fxr.2 - 8 1350 c.948C>T c.(946-948)CAC>CAT p.H316H BDH1_uc003fxs.2_Silent_p.H316H|BDH1_uc003fxt.2_Silent_p.H229H|BDH1_uc003fxu.2_Silent_p.H316H NM_203314 NP_976059 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 316 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity ovary(1) 1 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) AGTCCATGGGGTGGTAGCGGG 0.592000 GABRA2 2555 broad.mit.edu 37 4 46264078 46264078 + Silent SNP A A G rs35058221 byFrequency TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr4:46264078A>G uc003gxc.3 - 8 1597 c.924T>C c.(922-924)GCT>GCC p.A308A GABRA2_uc010igc.2_Silent_p.A308A|GABRA2_uc011bzc.1_Silent_p.A253A|GABRA2_uc003gxe.2_Silent_p.A308A NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 308 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGTTGCATAAGCCACTTTGG 0.393000 PPAT 5471 broad.mit.edu 37 4 57301585 57301585 + Nonsense_Mutation SNP G G C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr4:57301585G>C uc003hbr.2 - 1 261 c.59C>G c.(58-60)TCA>TGA p.S20* PAICS_uc003hbs.1_5'Flank|PAICS_uc011cac.1_5'Flank|PAICS_uc003hbt.1_5'Flank|PAICS_uc003hbu.1_5'Flank|PAICS_uc010ihd.1_5'Flank NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 20 Glutamine amidotransferase type-2. glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) CCACTCTCCTGAGGCGATGCA 0.662000 TRPC3 7222 broad.mit.edu 37 4 122801003 122801003 + Missense_Mutation SNP G G T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr4:122801003G>T uc003ieg.2 - 12 2728 c.2654C>A c.(2653-2655)TCC>TAC p.S885Y TRPC3_uc010inr.2_Missense_Mutation_p.S757Y|TRPC3_uc003ief.2_Missense_Mutation_p.S812Y|TRPC3_uc011cgl.1_Missense_Mutation_p.S549Y NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 800 Extracellular (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 ACGAAGGCTGGAGATATCTTG 0.333000 LRBA 987 broad.mit.edu 37 4 151836804 151836804 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr4:151836804G>A uc010ipj.2 - 8 1444 c.970C>T c.(970-972)CTG>TTG p.L324L LRBA_uc003ilu.3_Silent_p.L324L|LRBA_uc010ipk.1_Silent_p.L243L NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 324 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TAGGAAGCCAGCTCACCATTC 0.353000 PLRG1 5356 broad.mit.edu 37 4 155461124 155461124 + Missense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr4:155461124C>A uc003iny.2 - 11 1084 c.1021G>T c.(1021-1023)GCA>TCA p.A341S PLRG1_uc003inz.2_Missense_Mutation_p.A332S NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 341 WD 4. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) TGTGGTTCTGCAGCCTGACAT 0.333000 GUCY1A3 2982 broad.mit.edu 37 4 156638314 156638314 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr4:156638314G>A uc003iov.2 + 9 2112 c.1576G>A c.(1576-1578)GAG>AAG p.E526K GUCY1A3_uc010iqc.2_Missense_Mutation_p.E526K|GUCY1A3_uc003iow.2_Missense_Mutation_p.E526K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.E525K|GUCY1A3_uc003iox.2_Missense_Mutation_p.E526K|GUCY1A3_uc003ioz.2_Missense_Mutation_p.E291K|GUCY1A3_uc003ioy.2_Missense_Mutation_p.E526K|GUCY1A3_uc010iqe.2_Missense_Mutation_p.E291K|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.E526K NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 526 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TGTCTAGGTGGAGACCATTGG 0.408000 TRIML2 205860 broad.mit.edu 37 4 189012674 189012674 + Missense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr4:189012674C>A uc003izl.2 - 7 1053 c.1017G>T c.(1015-1017)ATG>ATT p.M339I TRIML2_uc003izj.1_Missense_Mutation_p.M167I|TRIML2_uc003izk.1_Missense_Mutation_p.M147I|TRIML2_uc011cle.1_Missense_Mutation_p.M414I NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 339 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) AAATGAGGGACATCTCGGTCA 0.493000 PTGER4 5734 broad.mit.edu 37 5 40692250 40692250 + Missense_Mutation SNP A A C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr5:40692250A>C uc003jlz.2 + 3 1829 c.1237A>C c.(1237-1239)AAT>CAT p.N413H NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 413 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 TGGAGGCAGGAATTTGCTTCC 0.557000 HCN1 348980 broad.mit.edu 37 5 45695943 45695943 + Nonsense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr5:45695943C>A uc003jok.2 - 1 278 c.253G>T c.(253-255)GAG>TAG p.E85* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 85 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CGGGGCCCCTCGGCGTCTTCG 0.502000 IPO11 51194 broad.mit.edu 37 5 61857028 61857028 + Silent SNP T T A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr5:61857028T>A uc003jtc.2 + 27 2716 c.2526T>A c.(2524-2526)CCT>CCA p.P842P IPO11_uc011cqr.1_Silent_p.P882P|IPO11_uc003jtd.1_RNA|IPO11_uc010iwr.2_Silent_p.P107P NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 842 HEAT 13. cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TTACCCAGCCTGAAAGAAGAA 0.383000 TTBK1 84630 broad.mit.edu 37 6 43251528 43251528 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr6:43251528G>A uc003ouq.1 + 14 3329 c.3050G>A c.(3049-3051)GGC>GAC p.G1017D NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1017 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CTGCCCAATGGCCCGGCCCTT 0.667000 LRRC1 55227 broad.mit.edu 37 6 53785539 53785539 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr6:53785539G>A uc003pcd.1 + 13 1673 c.1396G>A c.(1396-1398)GAT>AAT p.D466N NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 466 cytoplasm|membrane ovary(1) 1 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) GGATGAGAAAGATGAAGAAGA 0.418000 PRDM1 639 broad.mit.edu 37 6 106553508 106553508 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr6:106553508G>A uc003prd.2 + 5 1707 c.1473G>A c.(1471-1473)GCG>GCA p.A491A PRDM1_uc003pre.2_Silent_p.A357A NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 491 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TTGTCCCGGCGCCCCACAGTG 0.682000 D|N|Mis|F|S DLBCL ROS1 6098 broad.mit.edu 37 6 117641088 117641088 + Silent SNP T T C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr6:117641088T>C uc003pxp.1 - 36 6082 c.5883A>G c.(5881-5883)GAA>GAG p.E1961E ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Silent_p.E287E NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1961 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTGCTGTTCCTTCATACACTT 0.448000 T GOPC|ROS1 glioblastoma|NSCLC ESR1 2099 broad.mit.edu 37 6 152420094 152420094 + Missense_Mutation SNP C C T rs138891155 byFrequency TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr6:152420094C>T uc003qom.3 + 10 2151 c.1781C>T c.(1780-1782)ACG>ATG p.T594M ESR1_uc010kin.2_Missense_Mutation_p.T594M|ESR1_uc010kio.2_Missense_Mutation_p.T596M|ESR1_uc010kip.2_Missense_Mutation_p.T593M|ESR1_uc003qon.3_Missense_Mutation_p.T594M|ESR1_uc003qoo.3_Missense_Mutation_p.T594M|ESR1_uc010kiq.2_Missense_Mutation_p.T192M|ESR1_uc010kir.2_Missense_Mutation_p.T333M|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Missense_Mutation_p.T179M|ESR1_uc011eew.1_3'UTR|ESR1_uc011eex.1_Missense_Mutation_p.T269M|ESR1_uc011eey.1_3'UTR NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 594 Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TTCCCTGCCACGGTCTGAGAG 0.537000 FNDC1 84624 broad.mit.edu 37 6 159636057 159636057 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr6:159636057C>T uc010kjv.2 + 5 741 c.541C>T c.(541-543)CGC>TGC p.R181C FNDC1_uc010kjw.1_Missense_Mutation_p.R129C NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 181 Fibronectin type-III 2. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GAAGGCACCACGCCTGTCTGG 0.562000 ZMIZ2 83637 broad.mit.edu 37 7 44797586 44797586 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr7:44797586C>G uc003tlr.2 + 6 815 c.692C>G c.(691-693)CCC>CGC p.P231R ZMIZ2_uc003tlq.2_Missense_Mutation_p.P199R|ZMIZ2_uc003tls.2_Missense_Mutation_p.P231R|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 231 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 GCTATGAACCCCACCCGGGCA 0.667000 OR2F2 135948 broad.mit.edu 37 7 143632812 143632812 + Missense_Mutation SNP A A C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr7:143632812A>C uc011ktv.1 + 1 487 c.487A>C c.(487-489)ACC>CCC p.T163P NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) GACTGCTATCACCTTTCAGCT 0.522000 MYC 4609 broad.mit.edu 37 8 128753034 128753034 + Missense_Mutation SNP T T G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr8:128753034T>G uc003ysi.2 + 3 1720 c.1195T>G c.(1195-1197)TTG>GTG p.L399V NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 384 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GATCCCGGAGTTGGAAAACAA 0.498000 3 A|T IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@ Burkitt lymphoma| amplified in other cancers|B-CLL C9orf93 203238 broad.mit.edu 37 9 15920398 15920398 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr9:15920398G>A uc003zmd.2 + 25 4046 c.3731G>A c.(3730-3732)CGT>CAT p.R1244H C9orf93_uc003zme.2_Missense_Mutation_p.R1159H|C9orf93_uc011lmu.1_Missense_Mutation_p.R1252H NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 1244 0 GBM - Glioblastoma multiforme(50;4.84e-07) GCTTGTTTACGTGAAAATGCA 0.328000 PPP6C 5537 broad.mit.edu 37 9 127920613 127920613 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr9:127920613G>A uc004bpg.3 - 4 507 c.286C>T c.(286-288)CTT>TTT p.L96F PPP6C_uc010mwv.2_Missense_Mutation_p.L133F|PPP6C_uc010mww.2_Missense_Mutation_p.L74F|PPP6C_uc011lzr.1_Intron NM_002721 NP_002712 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit isoform 96 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity ovary(1)|skin(1) 2 AATGCAAGAAGGTAAGTGAAG 0.358000 BCOR 54880 broad.mit.edu 37 X 39923604 39923604 + Nonsense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chrX:39923604G>A uc004den.3 - 7 3779 c.3487C>T c.(3487-3489)CGA>TGA p.R1163* BCOR_uc004dep.3_Nonsense_Mutation_p.R1163*|BCOR_uc004deo.3_Nonsense_Mutation_p.R1145*|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Nonsense_Mutation_p.R1163* NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1163 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 GAGACTCGTCGGCGTTTGGCT 0.627000 ZBTB33 10009 broad.mit.edu 37 X 119389023 119389023 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chrX:119389023C>G uc004esn.1 + 2 1981 c.1753C>G c.(1753-1755)CGT>GGT p.R585G ZBTB33_uc010nqm.1_Missense_Mutation_p.R585G NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 585 Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AAAGCTTTATCGTTTACATCC 0.378000 SBNO2 22904 broad.mit.edu 37 19 1119967 1119967 + Frame_Shift_Del DEL T T - TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr19:1119967delT uc002lrk.3 - 12 1443 c.1205delA c.(1204-1206)AAGfs p.K402fs SBNO2_uc002lrj.3_Frame_Shift_Del_p.K345fs|SBNO2_uc010dse.2_Frame_Shift_Del_p.K395fs|SBNO2_uc010xgj.1_Frame_Shift_Del_p.K345fs|SBNO2_uc010dsf.2_Frame_Shift_Del_p.K345fs NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 402 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) TAGCACAGCCTTGCCCATCTT 0.627 SIK3 23387 broad.mit.edu 37 11 116798045 116798045 + Frame_Shift_Del DEL A A - TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr11:116798044_116798044GA>G uc001ppy.3 - 3 369 c.333_333TC>C c.(331-333)ttcfs p.F111fs SIK3_uc001ppz.3_Frame_Shift_Del_p.F10fs|SIK3_uc001pqa.3_Frame_Shift_Del_p.F111fs NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 111 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CGATCTGTTTGAACTTCCGAC 0.413 EAPP 55837 broad.mit.edu 37 14 34985634 34985640 + Frame_Shift_Del DEL TCTGCCT TCTGCCT - TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 g.chr14:34985633_34985639CTCTGCCT>C uc001wsd.1 - 5 844_850 c.735_741AGGCAGAG>G c.(733-741)aaggcagagfs p.K245fs NM_018453 NP_060923 Q56P03 EAPP_HUMAN Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA. 245 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 12 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) CCACATCTGTCTCTGCCTTCTCGGCAG 0.435