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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample AMPD2 271 broad.mit.edu 37 1 110171852 110171852 + Missense_Mutation SNP G G C TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr1:110171852G>C ENST00000256578.3 + 13 2215 c.1855G>C c.(1855-1857)Gag>Cag p.E619Q AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 619 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TCTCTTCTTAGAGCACGTGAG 0.607 3 62 --- --- --- --- TP53BP2 7159 broad.mit.edu 37 1 223986246 223986246 + Missense_Mutation SNP G G A TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr1:223986246G>A ENST00000391878.2 - 13 2000 c.1232C>T c.(1231-1233)tCa>tTa p.S411L TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S540L NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 534 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) AACAACTGTTGACAACTGCTG 0.478 4 108 --- --- --- --- NMS 129521 broad.mit.edu 37 2 101087006 101087006 + Missense_Mutation SNP T T C TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr2:101087006T>C ENST00000376865.1 + 1 63 c.56T>C c.(55-57)aTg>aCg p.M19T NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 19 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 TGCTTCTGCATGCTACAGATT 0.537 12 145 --- --- --- --- DNER 92737 broad.mit.edu 37 2 230456358 230456358 + Missense_Mutation SNP G G T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr2:230456358G>T ENST00000341772.4 - 2 657 c.523C>A c.(523-525)Ctg>Atg p.L175M NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 175 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CAGGTAGGCAGTGTCACCGTT 0.502 3 80 --- --- --- --- GPR128 84873 broad.mit.edu 37 3 100348538 100348538 + Missense_Mutation SNP G G T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr3:100348538G>T ENST00000273352.3 + 2 480 c.212G>T c.(211-213)gGa>gTa p.G71V NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 71 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GAGTGGAAAGGACTGAGATGT 0.388 4 105 --- --- --- --- LYAR 55646 broad.mit.edu 37 4 4281393 4281393 + Silent SNP A A T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr4:4281393A>T ENST00000343470.4 - 5 561 c.321T>A c.(319-321)gtT>gtA p.V107V LYAR_ENST00000452476.1_Silent_p.V107V NM_017816.2 NP_060286 Q9NX58 LYAR_HUMAN Ly1 antibody reactive 107 nucleolus metal ion binding|protein binding endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTTTCCTGGGAACGTTGTCAA 0.418 11 45 --- --- --- --- WFS1 7466 broad.mit.edu 37 4 6302431 6302431 + Silent SNP G G A TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr4:6302431G>A ENST00000226760.1 + 8 1079 c.909G>A c.(907-909)ctG>ctA p.L303L WFS1_ENST00000503569.1_Silent_p.L303L NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 303 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) AGGAGTACCTGATTGACATGG 0.582 23 48 --- --- --- --- NDST4 64579 broad.mit.edu 37 4 115997743 115997743 + Missense_Mutation SNP T T G TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr4:115997743T>G ENST00000264363.2 - 2 1128 c.450A>C c.(448-450)ttA>ttC p.L150F NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 150 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AGTATTTTTCTAAAAGCTCTC 0.343 5 74 --- --- --- --- PCDH18 54510 broad.mit.edu 37 4 138449742 138449742 + Missense_Mutation SNP T T A TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr4:138449742T>A ENST00000344876.4 - 3 3016 c.2630A>T c.(2629-2631)gAc>gTc p.D877V PCDH18_ENST00000507846.1_Missense_Mutation_p.D656V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 877 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGCCTCACTGTCACCACGGCC 0.423 79 288 --- --- --- --- ERAP2 64167 broad.mit.edu 37 5 96245318 96245318 + Missense_Mutation SNP A A T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr5:96245318A>T ENST00000437043.3 + 15 2915 c.2204A>T c.(2203-2205)gAc>gTc p.D735V ERAP2_ENST00000379904.4_Missense_Mutation_p.D690V|CTD-2260A17.2_ENST00000501338.1_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 735 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) CCAGTGATTGACAGGCAAAGC 0.488 6 82 --- --- --- --- TRIM36 55521 broad.mit.edu 37 5 114466299 114466299 + Missense_Mutation SNP C C T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr5:114466299C>T ENST00000513154.1 - 9 2112 c.1786G>A c.(1786-1788)Gtt>Att p.V596I TRIM36_ENST00000282369.3_Missense_Mutation_p.V608I|TRIM36_ENST00000514154.1_Missense_Mutation_p.V453I Q9NQ86 TRI36_HUMAN tripartite motif containing 36 608 B30.2/SPRY. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding p.A607fs*27(2) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) CTTGGACTAACTGCATCCCGG 0.393 22 81 --- --- --- --- CSNK1G3 1456 broad.mit.edu 37 5 122926136 122926136 + Missense_Mutation SNP A A G TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr5:122926136A>G ENST00000395412.1 + 9 1593 c.874A>G c.(874-876)Agg>Ggg p.R292G CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 292 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) TTATGTAAGAAGGCTAGATTT 0.259 3 69 --- --- --- --- PAIP2 51247 broad.mit.edu 37 5 138700332 138700332 + Missense_Mutation SNP G G T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr5:138700332G>T ENST00000394795.2 + 3 1209 c.218G>T c.(217-219)tGg>tTg p.W73L PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L|PAIP2_ENST00000510080.1_Missense_Mutation_p.W73L Q9BPZ3 PAIP2_HUMAN poly(A) binding protein interacting protein 2 73 PABPC1-interacting motif-1 (PAM1). negative regulation of translational initiation cytoplasm protein binding|translation repressor activity kidney(1)|large_intestine(2)|lung(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GAGCATGAATGGTTTATTCCA 0.388 3 56 --- --- --- --- PCDHB2 56133 broad.mit.edu 37 5 140475283 140475283 + Silent SNP G G T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr5:140475283G>T ENST00000194155.4 + 1 1057 c.909G>T c.(907-909)ctG>ctT p.L303L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 303 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGGAGAACTGCTTTTAAGAC 0.398 25 51 --- --- --- --- GALNT10 55568 broad.mit.edu 37 5 153795366 153795366 + Missense_Mutation SNP G G C TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr5:153795366G>C ENST00000297107.6 + 11 1664 c.1527G>C c.(1525-1527)gaG>gaC p.E509D GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D|GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 509 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) CCTGGAGAGAGGACATCCGGC 0.488 48 150 --- --- --- --- FOXQ1 94234 broad.mit.edu 37 6 1313422 1313422 + Silent SNP G G A TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr6:1313422G>A ENST00000296839.2 + 1 748 c.483G>A c.(481-483)acG>acA p.T161T NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 161 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) GCAGCTACACGGGCTGGCGCA 0.652 3 55 --- --- --- --- AOC1 26 broad.mit.edu 37 7 150554545 150554545 + Silent SNP C C T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr7:150554545C>T ENST00000493429.1 + 4 1571 c.987C>T c.(985-987)cgC>cgT p.R329R AOC1_ENST00000416793.2_Silent_p.R329R|AOC1_ENST00000467291.1_Silent_p.R329R|AOC1_ENST00000360937.4_Silent_p.R329R amine oxidase, copper containing 1 TCCGGCTGCGCTCCTCCTCCG 0.662 16 36 --- --- --- --- SETX 23064 broad.mit.edu 37 9 135203782 135203782 + Missense_Mutation SNP T T C TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr9:135203782T>C ENST00000372169.2 - 10 3385 c.3203A>G c.(3202-3204)gAg>gGg p.E1068G SETX_ENST00000393220.1_Missense_Mutation_p.E1068G|SETX_ENST00000224140.5_Missense_Mutation_p.E1068G Q7Z333 SETX_HUMAN senataxin 1068 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AAAAAGAGTCTCTGTCTTTTC 0.373 3 115 --- --- --- --- TRAF2 7186 broad.mit.edu 37 9 139793320 139793320 + Missense_Mutation SNP G G T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr9:139793320G>T ENST00000359662.3 + 2 173 c.128G>T c.(127-129)aGg>aTg p.R43M TRAF2_ENST00000536468.1_Missense_Mutation_p.R43M|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43M Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 43 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) GTCCTCCGCAGGCCCTTCCAG 0.667 8 14 --- --- --- --- TRAF2 7186 broad.mit.edu 37 9 139793321 139793321 + Missense_Mutation SNP G G T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr9:139793321G>T ENST00000359662.3 + 2 174 c.129G>T c.(127-129)agG>agT p.R43S TRAF2_ENST00000536468.1_Missense_Mutation_p.R43S|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43S Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 43 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) TCCTCCGCAGGCCCTTCCAGG 0.662 7 14 --- --- --- --- MICU1 10367 broad.mit.edu 37 10 74128038 74128038 + Missense_Mutation SNP T T C TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr10:74128038T>C ENST00000398761.4 - 14 1484 c.1352A>G c.(1351-1353)aAa>aGa p.K451R MICU1_ENST00000398763.4_Missense_Mutation_p.K251R|MICU1_ENST00000401998.3_Missense_Mutation_p.K449R|MICU1_ENST00000361114.5_Missense_Mutation_p.K449R|MICU1_ENST00000418483.2_Missense_Mutation_p.K251R Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 449 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding ACCCATGTCTTTGGGCTTTTC 0.493 13 41 --- --- --- --- HBBP1 3044 broad.mit.edu 37 11 5264445 5264445 + RNA SNP A A T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr11:5264445A>T ENST00000454892.1 - 0 51 NR_001589.1 GAAGGAGATCAGCACCTTCTT 0.498 10 24 --- --- --- --- CSTF3 1479 broad.mit.edu 37 11 33117876 33117876 + Missense_Mutation SNP T T C TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr11:33117876T>C ENST00000323959.4 - 15 1490 c.1351A>G c.(1351-1353)Att>Gtt p.I451V TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 451 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 AGATAGTCAATATAGGCCAGG 0.338 29 66 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118498113 118498113 + Missense_Mutation SNP T T C TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr11:118498113T>C ENST00000361417.2 + 7 985 c.574T>C c.(574-576)Tct>Cct p.S192P PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192P NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 192 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCTGGTGAGCTCTATTGAGAA 0.572 17 49 --- --- --- --- GPRC5A 9052 broad.mit.edu 37 12 13061954 13061954 + Silent SNP G G A TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr12:13061954G>A ENST00000014914.5 + 2 1661 c.771G>A c.(769-771)ctG>ctA p.L257L GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 257 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) GGGTGTTCCTGTTGGCTTATG 0.532 11 30 --- --- --- --- KRT84 3890 broad.mit.edu 37 12 52774883 52774883 + Missense_Mutation SNP A A G TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr12:52774883A>G ENST00000257951.3 - 6 1250 c.1184T>C c.(1183-1185)aTt>aCt p.I395T RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 395 Coil 2.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GGCGTGCTCAATCTCTGCCTT 0.562 8 196 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20845843 20845843 + Missense_Mutation SNP G G A TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr14:20845843G>A ENST00000262715.5 - 40 5831 c.5791C>T c.(5791-5793)Ctc>Ttc p.L1931F TEP1_ENST00000545983.1_Missense_Mutation_p.L269F|TEP1_ENST00000556935.1_Missense_Mutation_p.L1823F NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1931 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 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) GCCACAGAGAGGGCAGGAGAG 0.547 3 94 --- --- --- --- RBL2 5934 broad.mit.edu 37 16 53485706 53485706 + Silent SNP T T C TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr16:53485706T>C ENST00000262133.6 + 5 866 c.729T>C c.(727-729)tgT>tgC p.C243C RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.C27C NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 243 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CACTTCAGTGTTCTAATCGTA 0.378 25 97 --- --- --- --- MYCBPAP 84073 broad.mit.edu 37 17 48601102 48601102 + Missense_Mutation SNP C C T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr17:48601102C>T ENST00000323776.5 + 12 1883 c.1721C>T c.(1720-1722)tCc>tTc p.S574F MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S537F NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 537 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CACGCGGTCTCCCTGACCCAG 0.522 19 45 --- --- --- --- BRD4 23476 broad.mit.edu 37 19 15375515 15375515 + Missense_Mutation SNP G G T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr19:15375515G>T ENST00000263377.2 - 6 1133 c.912C>A c.(910-912)caC>caA p.H304Q BRD4_ENST00000371835.4_Missense_Mutation_p.H304Q|BRD4_ENST00000360016.5_Missense_Mutation_p.H304Q NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 304 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) AGGGTGGCTCGTGAATGGGGT 0.622 T C15orf55 lethal midline carcinoma of young people OREG0025319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 97 --- --- --- --- SPTBN4 57731 broad.mit.edu 37 19 41007898 41007898 + Silent SNP C C T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr19:41007898C>T ENST00000352632.3 + 8 941 c.855C>T c.(853-855)tcC>tcT p.S285S SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000344104.3_Silent_p.S285S|SPTBN4_ENST00000338932.3_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 285 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTATTTCTCCAAGATGAAGG 0.537 4 128 --- --- --- --- ZNF230 7773 broad.mit.edu 37 19 44515338 44515338 + Missense_Mutation SNP C C A TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr19:44515338C>A ENST00000429154.2 + 5 1375 c.1147C>A c.(1147-1149)Cag>Aag p.Q383K NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 383 QRV -> PEG (in Ref. 1; AAB62180). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) TAACTTGCACCAGAGGGTCCA 0.438 4 109 --- --- --- --- ZSCAN1 284312 broad.mit.edu 37 19 58565071 58565071 + Missense_Mutation SNP G G T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr19:58565071G>T ENST00000282326.1 + 6 1126 c.879G>T c.(877-879)caG>caT p.Q293H NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 293 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGCCCTTCCAGTGTGCCGACT 0.642 20 43 --- --- --- --- SOX12 6666 broad.mit.edu 37 20 306756 306756 + Missense_Mutation SNP C C G TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr20:306756C>G ENST00000342665.2 + 1 518 c.188C>G c.(187-189)cCc>cGc p.P63R RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.P63R NM_006943.2 NP_008874.2 O15370 SOX12_HUMAN SRY (sex determining region Y)-box 12 63 cell fate commitment|spinal cord development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GACCAGTGGCCCGACATGCAC 0.662 7 20 --- --- --- --- TMEM189 387521 broad.mit.edu 37 20 48746131 48746131 + Missense_Mutation SNP G G C TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr20:48746131G>C ENST00000557021.1 - 4 590 c.430C>G c.(430-432)Ctg>Gtg p.L144V TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V|TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.L144V NM_199203.2 NP_954673 transmembrane protein 189 breast(1)|endometrium(2)|large_intestine(3)|lung(2) 8 BRCA - Breast invasive adenocarcinoma(9;3.02e-07) AGCGGCAGCAGTGTCACCAGG 0.627 20 61 --- --- --- --- SRRD 402055 broad.mit.edu 37 22 26884138 26884138 + Silent SNP T T C TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr22:26884138T>C ENST00000215917.7 + 3 408 c.394T>C c.(394-396)Ttg>Ctg p.L132L NM_001013694.2 NP_001013716.2 Q9UH36 SRR1L_HUMAN SRR1 domain containing rhythmic process endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 AAGAGAGATCTTGGTCACAGG 0.488 15 51 --- --- --- --- MAOA 4128 broad.mit.edu 37 X 43571169 43571169 + Silent SNP T T A TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chrX:43571169T>A ENST00000338702.3 + 4 480 c.357T>A c.(355-357)atT>atA p.I119I MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 119 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) GGAATCCCATTGCATATTTGG 0.368 7 91 --- --- --- --- NBPF1 55672 broad.mit.edu 37 1 16891388 16891393 + In_Frame_Del DEL CTTCCC CTTCCC - TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr1:16891388_16891393delCTTCCC ENST00000430580.2 - 28 3972_3977 c.3085_3090delGGGAAG c.(3085-3090)gggaagdel p.GK1029del NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1026 NBPF 6.|Poly-Glu. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) cccttcttttcttccccttccccttc 0.432 7 311 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 152012422 152012424 + Splice_Site DEL CAC CAC - TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54 112415c3-8cea-4608-9f55-c5714ac77390 g.chr7:152012422_152012424delCAC ENST00000355193.2 - 4 608_609 c.390_391delGTG c.(388-393)aggtga>agga p.*131del KMT2C_ENST00000262189.6_Splice_Site_p.*131del lysine (K)-specific methyltransferase 2C CAGAGCTGTTCACTAGTAAAAAT 0.350 8 45 --- --- --- ---