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 pox qox pox_cutoff isArtifactMode oxoGCut CROCC 9696 broad.mit.edu 37 1 17256514 17256514 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:17256514G>T ENST00000375541.5 + 4 594 c.525G>T c.(523-525)cgG>cgT p.R175R CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 175 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TTGTGCAGCGGCTGCAGGGCA 0.682000 5 13 0.014758 0.0152228 1 1 0 CFHR4 10877 broad.mit.edu 37 1 196874340 196874340 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:196874340G>T ENST00000367416.2 + 3 493 c.356G>T c.(355-357)gGa>gTa p.G119V CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TGTAAACCAGGATATGCAACA 0.303000 56 56 1.4709e-25 2.38869e-25 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34554600 34554600 + Nonsense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:34554600G>A ENST00000373381.4 - 2 558 c.382C>T c.(382-384)Cag>Tag p.Q128* NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 88 CUB 1. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTCTCTGGCTGGGGTGGACCA 0.547000 9 73 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67681061 67681061 + Nonsense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:67681061G>A ENST00000334583.6 + 9 982 c.654G>A c.(652-654)tgG>tgA p.W218* RLTPR_ENST00000545661.1_Nonsense_Mutation_p.W218* NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 218 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) ACAACCTGTGGTTCCGGTGCC 0.677000 20 45 0 0 1 0 0 WDR75 84128 broad.mit.edu 37 2 190339500 190339500 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:190339500G>T ENST00000314761.4 + 20 2314 c.2254G>T c.(2254-2256)Gta>Tta p.V752L NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 752 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) CTCCATGTTTGTAAATTCATT 0.428000 29 60 1.30897e-18 1.95599e-18 1 1 0 ACY3 91703 broad.mit.edu 37 11 67412315 67412315 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:67412315C>A ENST00000255082.3 - 7 830 c.660G>T c.(658-660)atG>atT p.M220I ACY3_ENST00000529256.1_Missense_Mutation_p.M99I NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 220 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) TATAGGCTTCCATCTCAAAGG 0.647000 7 11 0.00198382 0.00211859 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105418405 105418405 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:105418405C>A ENST00000333244.5 - 7 3502 c.3383G>T c.(3382-3384)aGc>aTc p.S1128I AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1128 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 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) CACCTCCACGCTGGGCAGAGA 0.662000 153 137 2.20124e-68 3.96829e-68 1 1 0 MYO1E 4643 broad.mit.edu 37 15 59487661 59487661 + Splice_Site SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:59487661T>A ENST00000288235.4 - 17 2203 c.1805_splice c.e17+1 p.R602_splice NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 602 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CCCCGATACCTGCTTTCCTCC 0.562000 40 40 0 0 1 0 0 WASH2P 375260 broad.mit.edu 37 2 114356338 114356338 + RNA SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:114356338C>T ENST00000538033.2 + 0 2518 GACACCTTCCCCCCCAGACCC 0.632000 10 20 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059300 248059300 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:248059300C>T ENST00000537741.1 + 3 669 c.412C>T c.(412-414)Ccc>Tcc p.P138S OR2W3_ENST00000360358.3_Missense_Mutation_p.P138S Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GATCATGAACCCCAGGCTCTG 0.627000 36 73 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805677 54805677 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:54805677C>A ENST00000306858.7 + 5 2024 c.1908C>A c.(1906-1908)aaC>aaA p.N636K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 636 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AATCAAATAACTATATATATA 0.373000 17 63 1.67942e-08 2.05611e-08 1 1 0 PSG9 5678 broad.mit.edu 37 19 43766228 43766228 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:43766228C>A ENST00000244293.7 - 3 559 c.493G>T c.(493-495)Gtg>Ttg p.V165L PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.V165L|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.V165L Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 165 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) ATTAAGCGCACAGCCTCCATG 0.537000 66 265 2.67592e-24 4.2924e-24 1 1 0 ZSCAN20 7579 broad.mit.edu 37 1 33960313 33960313 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:33960313G>T ENST00000361328.3 + 8 2522 c.2369G>T c.(2368-2370)gGg>gTg p.G790V NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 790 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) ATTCACACGGGGGAAAAGCCC 0.443000 49 116 8.30282e-39 1.4567e-38 1 1 0 CHRNB2 1141 broad.mit.edu 37 1 154542739 154542739 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:154542739G>T ENST00000368476.3 + 4 525 c.261G>T c.(259-261)tgG>tgT p.W87C NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 87 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CCCAGGAGTGGGAAGATTATC 0.532000 14 14 0.000151284 0.000167478 1 1 0 ADAM15 8751 broad.mit.edu 37 1 155028314 155028314 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:155028314G>T ENST00000356955.2 + 7 762 c.661G>T c.(661-663)Gct>Tct p.A221S ADAM15_ENST00000447332.3_Missense_Mutation_p.A205S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.A221S|ADAM15_ENST00000271836.6_Missense_Mutation_p.A221S|ADAM15_ENST00000360674.4_Missense_Mutation_p.A221S|ADAM15_ENST00000355956.2_Missense_Mutation_p.A221S|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.A221S|ADAM15_ENST00000531455.1_Missense_Mutation_p.A231S|ADAM15_ENST00000359280.4_Missense_Mutation_p.A221S NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 221 Peptidase M12B. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GGTGATTGTGGCTGATCACTC 0.582000 24 164 3.5997e-14 4.9638e-14 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803720 185803720 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:185803720C>A ENST00000302277.6 + 4 4191 c.3597C>A c.(3595-3597)caC>caA p.H1199Q NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1199 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTTCCCCACACCCTACTGTCA 0.438000 88 223 6.00224e-42 1.06256e-41 1 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227216501 227216501 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:227216501T>A ENST00000366769.3 - 29 5475 c.4184A>T c.(4183-4185)cAa>cTa p.Q1395L CDC42BPA_ENST00000366766.2_Missense_Mutation_p.Q1430L|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.Q1375L|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.Q1408L|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.Q1314L|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.Q1395L|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.Q1367L NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1408 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) ATCCATTGGTTGATGTGCAAT 0.418000 19 97 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107976099 107976099 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:107976099G>T ENST00000372129.2 - 1 3552 c.3476C>A c.(3475-3477)tCt>tAt p.S1159Y NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 1159 Ala-rich. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CCAGCGGGCAGAGGCGGAGTC 0.647000 85 108 1.72036e-36 2.99161e-36 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11696953 11696953 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:11696953A>T ENST00000262442.3 + 42 8263 c.8195A>T c.(8194-8196)cAg>cTg p.Q2732L DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2732L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2732 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GATAAAATCCAGACAGAAGTG 0.333000 38 34 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531445 140531445 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:140531445C>A ENST00000231136.1 + 1 1607 c.1607C>A c.(1606-1608)tCc>tAc p.S536Y PCDHB6_ENST00000543635.1_Missense_Mutation_p.S400Y NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 536 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACCGCGGCTCCCCGGCGTTG 0.672000 49 67 1.80625e-27 2.9826e-27 1 1 0 TTN 7273 broad.mit.edu 37 2 179639128 179639128 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:179639128C>A ENST00000589042.1 - 30 7087 c.6863G>T c.(6862-6864)tGc>tTc p.C2288F TTN_ENST00000359218.5_Missense_Mutation_p.C2242F|TTN_ENST00000591111.1_Missense_Mutation_p.C2288F|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C2242F|TTN_ENST00000342992.6_Missense_Mutation_p.C2288F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.C2288F|TTN_ENST00000460472.2_Missense_Mutation_p.C2242F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2012 Ig-like 12. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGATACAATGCACTCTAATTC 0.363000 9 57 5.68852e-11 7.42721e-11 1 1 0 CSMD1 64478 broad.mit.edu 37 8 3076777 3076777 + Splice_Site SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:3076777C>A ENST00000520002.1 - 30 5230 c.4675_splice c.e30+1 p.E1559_splice CSMD1_ENST00000542608.1_Splice_Site_p.E1558_splice|CSMD1_ENST00000539096.1_Splice_Site_p.E1558_splice|CSMD1_ENST00000537824.1_Splice_Site_p.E1558_splice|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Splice_Site_p.E1559_splice|CSMD1_ENST00000602557.1_Splice_Site_p.E1559_splice|CSMD1_ENST00000400186.3_Splice_Site_p.E1559_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1559 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATCGCAATACCTTTAAATTCA 0.423000 3 7 1 1 1 1 0 CENPI 2491 broad.mit.edu 37 X 100357331 100357331 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:100357331G>T ENST00000372927.1 + 3 572 c.295G>T c.(295-297)Gct>Tct p.A99S CENPI_ENST00000372926.1_Missense_Mutation_p.A99S|CENPI_ENST00000218507.5_Missense_Mutation_p.A99S|CENPI_ENST00000423383.1_Missense_Mutation_p.A99S NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 99 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 GGAAAATGTGGCTTGGAAGAA 0.313000 84 104 2.93434e-44 5.21807e-44 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618870 77618870 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:77618870C>A ENST00000521891.2 + 2 2995 c.2547C>A c.(2545-2547)ttC>ttA p.F849L ZFHX4_ENST00000455469.2_Missense_Mutation_p.F849L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F849L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F849L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 849 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCAATCCATTCCAGCTGGATC 0.498000 HNSCC(33;0.089) 8 8 0.000442599 0.000483171 1 1 0 CTSS 1520 broad.mit.edu 37 1 150724300 150724300 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:150724300T>A ENST00000368985.3 - 5 844 c.584A>T c.(583-585)aAc>aTc p.N195I CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.N145I NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 195 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) GATGCCCTTGTTATCAATGAT 0.468000 56 144 0 0 1 0 0 ATRIP 84126 broad.mit.edu 37 3 48506022 48506022 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:48506022G>T ENST00000412052.1 + 11 2199 c.1737G>T c.(1735-1737)ttG>ttT p.L579F ATRIP_ENST00000357105.6_Missense_Mutation_p.L545F|ATRIP_ENST00000346691.4_Intron|ATRIP_ENST00000320211.3_Missense_Mutation_p.L672F NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 672 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGAGCCCCTTGCCCCCAGTCA 0.607000 Other conserved DNA damage response genes 28 93 1.16021e-09 1.46612e-09 1 1 0 HSD17B11 51170 broad.mit.edu 37 4 88261736 88261736 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:88261736C>T ENST00000358290.4 - 6 1033 c.718G>A c.(718-720)Gag>Aag p.E240K HSD17B11_ENST00000507518.1_5'UTR|RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507286.1_Missense_Mutation_p.E196K NM_016245.3 NP_057329.2 Q8NBQ5 DHB11_HUMAN hydroxysteroid (17-beta) dehydrogenase 11 240 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) ACCACTTCCTCAGGTTCCAGA 0.408000 24 41 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70812065 70812065 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:70812065G>A ENST00000322773.4 + 16 1331 c.1229G>A c.(1228-1230)aGa>aAa p.R410K COL19A1_ENST00000393344.1_Missense_Mutation_p.R32K NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 410 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TTCAAGGGAAGACGAGGGAAA 0.373000 26 82 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525662 176525662 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:176525662T>A ENST00000367662.3 + 2 1368 c.204T>A c.(202-204)ttT>ttA p.F68L PAPPA2_ENST00000367661.3_Missense_Mutation_p.F68L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 68 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ATCACCTCTTTGGAGTCTACC 0.552000 91 186 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 140995744 140995744 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:140995744C>A ENST00000389484.3 - 89 14508 c.13537G>T c.(13537-13539)Ggc>Tgc p.G4513C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4513 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATCATAAAGCCAGGATCTAAA 0.368000 TSP Lung(27;0.18) 29 88 5.60225e-13 7.51428e-13 1 1 0 SRC 6714 broad.mit.edu 37 20 36031656 36031656 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr20:36031656C>T ENST00000373578.2 + 14 1834 c.1485C>T c.(1483-1485)caC>caT p.H495H SRC_ENST00000445403.1_Silent_p.H495H|SRC_ENST00000373567.2_Silent_p.H495H|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_Silent_p.H501H|SRC_ENST00000373558.2_Silent_p.H501H|SRC_ENST00000358208.4_Silent_p.H495H NM_198291.1 NP_938033.1 P12931 SRC_HUMAN v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog 495 Protein kinase. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) AGTCCCTGCACGACCTCATGT 0.682000 4 16 0 0 1 0 0 SDHD 6392 broad.mit.edu 37 11 111958606 111958606 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:111958606C>T ENST00000375549.3 + 2 213 c.78C>T c.(76-78)gtC>gtT p.V26V SDHD_ENST00000532699.1_Silent_p.V26V|SDHD_ENST00000525291.1_Intron|SDHD_ENST00000528182.1_Silent_p.V26V|SDHD_ENST00000526592.1_Silent_p.V26V|SDHD_ENST00000528021.1_Silent_p.V26V|SDHD_ENST00000528048.1_Silent_p.V26V NM_003002.2 NP_002993.1 O14521 DHSD_HUMAN succinate dehydrogenase complex, subunit D, integral membrane protein 26 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 9 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515) Succinic acid(DB00139) CTCCAGTGGTCAGACCTGCTC 0.453000 """Mis, N, F, S""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome 24 158 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081034 152081034 + Silent SNP A A T rs71585886 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:152081034A>T ENST00000368804.1 - 2 4658 c.4659T>A c.(4657-4659)cgT>cgA p.R1553R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1553 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTTTCTGTCACGGTCCTGAC 0.602000 24 188 0 0 1 0 0 URAD 646625 broad.mit.edu 37 13 28562684 28562684 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr13:28562684C>A ENST00000332715.4 - 1 90 c.91G>T c.(91-93)Gct>Tct p.A31S NM_001105577.1 NP_001099047.1 ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase GACCAAACAGCAGCTGCAATC 0.463000 29 62 7.01153e-11 9.06425e-11 1 1 0 SOCS4 122809 broad.mit.edu 37 14 55510836 55510836 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:55510836G>T ENST00000395472.2 + 2 1409 c.1077G>T c.(1075-1077)ggG>ggT p.G359G SOCS4_ENST00000555846.1_Silent_p.G359G|SOCS4_ENST00000339298.2_Silent_p.G359G NM_080867.2|NM_199421.1 NP_543143.1|NP_955453.1 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 359 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of growth central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 ACATTACTGGGCTCCTAGAAC 0.433000 32 73 5.60225e-13 7.51428e-13 1 1 0 SLC6A11 6538 broad.mit.edu 37 3 10960101 10960101 + Nonsense_Mutation SNP C C G rs144421280 by1000genomes TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:10960101C>G ENST00000254488.2 + 8 1149 c.1083C>G c.(1081-1083)taC>taG p.Y361* NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 361 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TTATGGCGTACGAGCAGGGGG 0.572000 18 21 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156390188 156390188 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:156390188G>T ENST00000274532.2 - 1 78 c.22C>A c.(22-24)Ctc>Atc p.L8I TIMD4_ENST00000407087.3_Missense_Mutation_p.L8I NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 8 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATCAGCCAGAGAATGAGAGGT 0.443000 54 33 3.84483e-29 6.51302e-29 1 1 0 CHMP4C 92421 broad.mit.edu 37 8 82665453 82665453 + Silent SNP G G A rs140893589 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:82665453G>A ENST00000297265.4 + 2 538 c.345G>A c.(343-345)gcG>gcA p.A115A NM_152284.3 NP_689497.1 Q96CF2 CHM4C_HUMAN charged multivesicular body protein 4C 115 Intramolecular interaction with C- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 CAGCAAAAGCGATGAAATCTG 0.448000 10 55 0 0 1 0 0 STX1B 112755 broad.mit.edu 37 16 31008058 31008058 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:31008058G>A ENST00000215095.5 - 7 714 c.483C>T c.(481-483)aaC>aaT p.N161N STX1B_ENST00000565419.1_Silent_p.N161N NM_052874.3 NP_443106.1 P61266 STX1B_HUMAN syntaxin 1B 161 intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane extracellular-glutamate-gated ion channel activity|SNAP receptor activity p.N161K(1) breast(2)|endometrium(1)|large_intestine(5)|lung(5) 13 CCAGTTCTTCGTTGGTGGTGG 0.632000 22 91 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608123 4608123 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:4608123G>T ENST00000312614.4 + 1 103 c.81G>T c.(79-81)atG>atT p.M27I NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CACTTGTGATGCTGGGTCCAG 0.453000 50 101 7.05377e-20 1.07865e-19 1 1 0 ACSL4 2182 broad.mit.edu 37 X 108902739 108902739 + Splice_Site SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:108902739C>A ENST00000340800.2 - 16 2326 c.1820_splice c.e16-1 p.D608_splice ACSL4_ENST00000469796.2_Splice_Site_p.D608_splice|ACSL4_ENST00000348502.6_Splice_Site_p.D567_splice NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 608 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) TAGGACTGATCACTAAAAAAA 0.323000 11 68 3.86212e-05 4.31197e-05 1 1 0 ZP4 57829 broad.mit.edu 37 1 238048857 238048857 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:238048857C>A ENST00000366570.4 - 8 1152 c.994G>T c.(994-996)Ggt>Tgt p.G332C RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 332 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCACCAACACCGTAGTAAGAG 0.483000 32 47 1.06801e-11 1.3991e-11 1 1 0 GNAS 2778 broad.mit.edu 37 20 57428898 57428898 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr20:57428898G>A ENST00000371100.4 + 1 1130 c.578G>A c.(577-579)gGg>gAg p.G193E GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.G130R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.G193E|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G193E|GNAS_ENST00000603534.1_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GGTGCTGCAGGGGTCCCCGGA 0.622000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 6 22 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38620936 38620936 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:38620936C>A ENST00000413689.1 - 18 3472 c.3279G>T c.(3277-3279)agG>agT p.R1093S SCN5A_ENST00000455624.2_Missense_Mutation_p.R1092S|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1093S|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1092S|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1093S|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1092S|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1093S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1093 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCTCCAGGTCCTGGAATCCG 0.657000 12 15 1.05317e-09 1.33947e-09 1 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 54 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96858534 96858534 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:96858534A>T ENST00000267584.4 + 1 87 c.43A>T c.(43-45)Atc>Ttc p.I15F AK7_ENST00000555570.1_Missense_Mutation_p.I15F NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 15 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGAGAAGGTTATCCGGACCCA 0.607000 23 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179419327 179419327 + Missense_Mutation SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:179419327T>C ENST00000589042.1 - 332 88971 c.88747A>G c.(88747-88749)Atg>Gtg p.M29583V TTN_ENST00000359218.5_Missense_Mutation_p.M20643V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M27942V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M20710V|TTN_ENST00000342992.6_Missense_Mutation_p.M27015V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M20518V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27942 Ig-like 135. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGACACCATAGACCACACA 0.458000 29 111 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123594504 123594504 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:123594504G>T ENST00000340011.5 + 3 1237 c.880G>T c.(880-882)Gca>Tca p.A294S SPAM1_ENST00000223028.7_Missense_Mutation_p.A294S|SPAM1_ENST00000460182.1_Missense_Mutation_p.A294S|SPAM1_ENST00000402183.2_Missense_Mutation_p.A294S|SPAM1_ENST00000439500.1_Missense_Mutation_p.A294S NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 294 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) AATACCTGATGCAAAAAGTCC 0.418000 29 46 5.60225e-13 7.51428e-13 1 1 0 SPCS3 60559 broad.mit.edu 37 4 177241360 177241360 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:177241360C>T ENST00000503362.1 + 1 246 c.133C>T c.(133-135)Cgg>Tgg p.R45W RP11-87F15.2_ENST00000512634.1_RNA NM_021928.3 NP_068747.1 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 homolog (S. cerevisiae) 45 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity ovary(2) 2 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) GCACGTCTCGCGGATCATGCT 0.726000 18 25 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160998198 160998198 + Missense_Mutation SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:160998198T>C ENST00000447678.1 - 29 4721 c.4601A>G c.(4600-4602)cAt>cGt p.H1534R LPA_ENST00000316300.5_Missense_Mutation_p.H1534R NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4042 Kringle 14. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGTCCTCTGATGCCAGTGTGG 0.448000 37 174 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126716014 126716014 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr10:126716014C>A ENST00000309035.6 - 1 445 c.315G>T c.(313-315)ctG>ctT p.L105L CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCCGTGGCAGCAGGGGGCTGC 0.602000 27 39 1.75199e-13 2.39073e-13 1 1 0 NFXL1 152518 broad.mit.edu 37 4 47880617 47880617 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:47880617C>A ENST00000507489.1 - 17 2180 c.2004G>T c.(2002-2004)ttG>ttT p.L668F NFXL1_ENST00000329043.3_Missense_Mutation_p.L668F|NFXL1_ENST00000381538.3_Missense_Mutation_p.L668F NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 668 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TCTGACAATCCAAGATTCTTC 0.378000 63 51 7.50695e-29 1.26619e-28 1 1 0 H2BFWT 158983 broad.mit.edu 37 X 103268203 103268203 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:103268203G>T ENST00000217926.5 - 1 56 c.30C>A c.(28-30)ccC>ccA p.P10P NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 10 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 TTGTGGACCGGGGAAGCCGGG 0.602000 3 25 0.004672 0.00489626 1 1 0 LINC00969 440993 broad.mit.edu 37 3 195400848 195400848 + RNA SNP G G A rs7635190 by1000genomes TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:195400848G>A ENST00000445430.1 + 0 1444 TCGCAGAGTCGTGCAGGCCTG 0.552000 4 13 0 0 1 0 0 OR8J1 219477 broad.mit.edu 37 11 56128228 56128228 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:56128228G>A ENST00000303039.3 + 1 538 c.506G>A c.(505-507)tGc>tAc p.C169Y NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GTGTCTTATTGCTCTTCTAAT 0.388000 25 59 0 0 1 0 0 HMGCS1 3157 broad.mit.edu 37 5 43294159 43294159 + Splice_Site SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:43294159C>T ENST00000325110.6 - 8 1388 c.1183_splice c.e8+1 p.P394_splice HMGCS1_ENST00000433297.2_Splice_Site_p.P394_splice NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 394 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 AGCACTTACCCGGTGTAGCAT 0.493000 42 52 0 0 1 0 0 LHX2 9355 broad.mit.edu 37 9 126777716 126777716 + Nonsense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:126777716C>A ENST00000373615.4 + 3 1378 c.639C>A c.(637-639)taC>taA p.Y213* NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 213 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 GTCTTCCCTACTACAATGGCG 0.706000 5 18 0.0215528 0.0221734 1 1 0 CDH8 1006 broad.mit.edu 37 16 62055275 62055275 + Silent SNP A A G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:62055275A>G ENST00000577390.1 - 2 987 c.33T>C c.(31-33)gaT>gaC p.D11D CDH8_ENST00000577730.1_Silent_p.D11D|CDH8_ENST00000299345.6_Silent_p.D11D|CDH8_ENST00000584337.1_Silent_p.D11D NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 11 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GAGTCCAGAGATCCAAGAGCA 0.438000 37 63 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167810297 167810297 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:167810297G>C ENST00000357154.3 - 7 719 c.582C>G c.(580-582)agC>agG p.S194R SPOCK3_ENST00000357545.4_Missense_Mutation_p.S191R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.S96R|SPOCK3_ENST00000506886.1_Missense_Mutation_p.S194R|SPOCK3_ENST00000512648.1_Missense_Mutation_p.S191R|SPOCK3_ENST00000511531.1_Missense_Mutation_p.S194R|SPOCK3_ENST00000504953.1_Missense_Mutation_p.S191R|SPOCK3_ENST00000541637.1_Missense_Mutation_p.S96R|SPOCK3_ENST00000541354.1_Missense_Mutation_p.S74R|SPOCK3_ENST00000535728.1_Missense_Mutation_p.S102R|SPOCK3_ENST00000502330.1_Missense_Mutation_p.S194R|SPOCK3_ENST00000511269.1_Missense_Mutation_p.S191R|SPOCK3_ENST00000534949.1_Missense_Mutation_p.S98R|SPOCK3_ENST00000510741.1_Missense_Mutation_p.S191R|SPOCK3_ENST00000421836.2_Missense_Mutation_p.S143R NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 194 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TAACATTTCTGCTTGTACTGG 0.343000 16 31 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151093080 151093080 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:151093080A>T ENST00000370335.1 + 3 1211 c.944A>T c.(943-945)gAg>gTg p.E315V MAGEA4_ENST00000370337.4_Missense_Mutation_p.E315V|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E315V|MAGEA4_ENST00000360243.2_Missense_Mutation_p.E315V|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E315V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E315V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E315V P43358 MAGA4_HUMAN melanoma antigen family A, 4 315 protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) GAGGAGGAAGAGGGAGTCTGA 0.572000 24 102 0 0 1 0 0 IFNA2 3440 broad.mit.edu 37 9 21384861 21384861 + Missense_Mutation SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:21384861C>G ENST00000380206.2 - 1 535 c.468G>C c.(466-468)aaG>aaC p.K156N NM_000605.3 NP_000596.2 P01563 IFNA2_HUMAN interferon, alpha 2 156 blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 13 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) GGCTGTATTTCTTCTCTTTCA 0.438000 74 315 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149573 34149573 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:34149573C>A ENST00000346193.3 - 1 874 c.823G>T c.(823-825)Gac>Tac p.D275Y NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 275 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GCCCGTGCGTCTTCCAGCTTC 0.577000 32 33 3.67414e-24 5.86966e-24 1 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 103 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574017 7574017 + Missense_Mutation SNP C C G rs121912664 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:7574017C>G ENST00000269305.4 - 10 1199 c.1010G>C c.(1009-1011)cGc>cCc p.R337P TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337P|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 337 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATCTCGAAGCGCTCACGCCC 0.527000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 13 0 0 1 0 0 CTRL 1506 broad.mit.edu 37 16 67965049 67965049 + Silent SNP G G A rs146079104 by1000genomes TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:67965049G>A ENST00000574481.1 - 2 669 c.108C>T c.(106-108)aaC>aaT p.N36N CTC-479C5.12_ENST00000573493.1_Intron|CTRL_ENST00000576408.1_Intron NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 36 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CATTCTCCCCGTTGACAATCC 0.622000 18 53 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400841 195400841 + RNA SNP C C A rs7615369 by1000genomes TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:195400841C>A ENST00000445430.1 + 0 1437 CTGAGCATCGCAGAGTCGTGC 0.552000 4 13 0.248553 0.250464 1 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50657617 50657617 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr22:50657617G>A ENST00000248846.5 - 20 4610 c.4506C>T c.(4504-4506)gcC>gcT p.A1502A TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1502 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGTCGACAGCGGCCTTGTTCA 0.657000 6 44 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146536868 146536868 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:146536868C>A ENST00000361727.3 + 3 790 c.274C>A c.(274-276)Cgg>Agg p.R92R NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 92 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTTTGGCAATCGGAAGCAGAT 0.502000 HNSCC(39;0.1) 27 57 2.44723e-14 3.4105e-14 1 1 0 TTN 7273 broad.mit.edu 37 2 179664563 179664563 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:179664563G>T ENST00000589042.1 - 5 882 c.658C>A c.(658-660)Cga>Aga p.R220R TTN_ENST00000359218.5_Silent_p.R220R|TTN_ENST00000591111.1_Silent_p.R220R|TTN_ENST00000342175.6_Silent_p.R220R|TTN_ENST00000342992.6_Silent_p.R220R|TTN_ENST00000360870.5_Silent_p.R220R|TTN_ENST00000460472.2_Silent_p.R220R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 220 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R220R(6) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTCAATTCGGGTTTGTCTT 0.403000 11 70 5.50884e-06 6.38635e-06 1 1 0 ACTN4 81 broad.mit.edu 37 19 39200910 39200910 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:39200910G>T ENST00000252699.2 + 8 823 c.747G>T c.(745-747)acG>acT p.T249T ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 249 Actin-binding.|CH 2. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCGTGAACACGGCCCGGCCCG 0.612000 51 215 4.25531e-23 6.7433e-23 1 1 0 TFAP2D 83741 broad.mit.edu 37 6 50712950 50712950 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:50712950C>A ENST00000008391.3 + 6 1242 c.1014C>A c.(1012-1014)atC>atA p.I338I TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 338 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AAAAGATGATCCTGGCGACCA 0.403000 28 66 1.62565e-12 2.15838e-12 1 1 0 RYR2 6262 broad.mit.edu 37 1 237993923 237993923 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:237993923A>T ENST00000366574.2 + 103 15066 c.14749A>T c.(14749-14751)Aat>Tat p.N4917Y RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.N4923Y|RYR2_ENST00000542537.1_Missense_Mutation_p.N4901Y NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4917 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAACTTGGCTAATTACTTGTG 0.453000 20 158 0 0 1 0 0 PSMD11 5717 broad.mit.edu 37 17 30807526 30807526 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:30807526G>T ENST00000261712.3 + 13 1409 c.1146G>T c.(1144-1146)gaG>gaT p.E382D PSMD11_ENST00000457654.2_Missense_Mutation_p.E382D NM_001270482.1|NM_002815.3 NP_001257411.1|NP_002806.2 O00231 PSD11_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 382 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) ACCAGGGGGAGGGTGTCCTGA 0.458000 35 77 1.04352e-10 1.3446e-10 1 1 0 FAIM3 9214 broad.mit.edu 37 1 207095190 207095190 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:207095190A>T ENST00000367091.3 - 1 153 c.10T>A c.(10-12)Tgg>Agg p.W4R FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_Missense_Mutation_p.W4R|FAIM3_ENST00000420007.2_Missense_Mutation_p.W4R NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 4 anti-apoptosis|cellular defense response integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) GGCCAAAGCCAGAAGTCCATT 0.507000 12 93 0 0 1 0 0 C12orf71 728858 broad.mit.edu 37 12 27234351 27234351 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:27234351G>A ENST00000429849.2 - 2 596 c.566C>T c.(565-567)tCc>tTc p.S189F NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 189 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 CAGGATTGAGGAGATCTCTGG 0.537000 46 46 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150155703 150155703 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:150155703G>T ENST00000325307.7 + 4 489 c.393G>T c.(391-393)tgG>tgT p.W131C HMGB3_ENST00000448905.2_Missense_Mutation_p.W131C NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 131 DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) GTGAGATGTGGAATAATTTAA 0.478000 7 35 0.0381472 0.0390413 1 1 0 SERPINF1 5176 broad.mit.edu 37 17 1680502 1680502 + Nonsense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:1680502C>A ENST00000254722.4 + 8 1182 c.1019C>A c.(1018-1020)tCa>tAa p.S340* NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 340 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 TTGTTTGATTCACCAGACTTT 0.537000 64 110 7.41606e-26 1.20934e-25 1 1 0 NCAM1 4684 broad.mit.edu 37 11 113140978 113140978 + Missense_Mutation SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:113140978C>G ENST00000316851.7 + 16 2170 c.2170C>G c.(2170-2172)Ctg>Gtg p.L724V NCAM1_ENST00000397957.4_3'UTR|NCAM1-AS1_ENST00000533638.1_RNA|NCAM1-AS1_ENST00000526229.1_RNA NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 734 axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CATCTTCGTCCTGCTCCTGGT 0.602000 5 261 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71887315 71887315 + Silent SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:71887315C>G ENST00000373545.3 - 7 1065 c.627G>C c.(625-627)ctG>ctC p.L209L PHKA1_ENST00000541944.1_Silent_p.L209L|PHKA1_ENST00000373539.3_Silent_p.L209L|PHKA1_ENST00000339490.3_Silent_p.L209L|PHKA1_ENST00000373542.4_Silent_p.L209L P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 209 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CTAATGCTTCCAGGGCTGCCT 0.408000 22 21 0 0 1 0 0 TRPC1 7220 broad.mit.edu 37 3 142499774 142499774 + Missense_Mutation SNP A A G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:142499774A>G ENST00000273482.6 + 5 1152 c.761A>G c.(760-762)cAt>cGt p.H254R TRPC1_ENST00000476941.1_Missense_Mutation_p.H288R NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 288 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 ATTCTAAACCATACGTCTAGT 0.378000 31 34 0 0 1 0 0 MIR513A2 574510 broad.mit.edu 37 X 146307425 146307425 + RNA SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:146307425C>A ENST00000385249.1 - 0 45 NR_030232.1 taaatgacacctccctgtgaa 0.438000 7 25 2.0095e-06 2.35741e-06 1 1 0 MMP16 4325 broad.mit.edu 37 8 89179958 89179958 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:89179958C>T ENST00000286614.6 - 4 930 c.649G>A c.(649-651)Gga>Aga p.G217R MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 217 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GTATCTCCTCCAATTCCTGGT 0.408000 28 65 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49447387 49447387 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:49447387C>T ENST00000301067.7 - 6 710 c.711G>A c.(709-711)gaG>gaA p.E237E NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGTCACACAACTCCCCTGGCC 0.597000 4 4 0 0 1 0 0 SCIN 85477 broad.mit.edu 37 7 12664768 12664768 + Splice_Site SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:12664768G>T ENST00000297029.5 + 6 993 c.e6+1 SCIN_ENST00000445618.2_Splice_Site|SCIN_ENST00000473722.1_Splice_Site|SCIN_ENST00000519209.1_Splice_Site NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GTATGGAAAGGTAAAAAATTC 0.353000 9 9 2.80697e-09 3.53571e-09 1 1 0 ABCA6 23460 broad.mit.edu 37 17 67092780 67092780 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:67092780C>A ENST00000284425.2 - 24 3457 c.3283G>T c.(3283-3285)Gtg>Ttg p.V1095L ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1095 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) AAAGCAAACACAATTTGGCTT 0.264000 8 27 5.18039e-06 6.04123e-06 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77690596 77690596 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:77690596C>A ENST00000521891.2 + 4 3694 c.3246C>A c.(3244-3246)ctC>ctA p.L1082L ZFHX4_ENST00000455469.2_Silent_p.L1056L|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Silent_p.L1056L|ZFHX4_ENST00000518282.1_Silent_p.L1056L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1056 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCTCCAGCTCCACCAGCAAG 0.522000 HNSCC(33;0.089) 83 161 1.84514e-49 3.31114e-49 1 1 0 OR5P3 120066 broad.mit.edu 37 11 7847399 7847399 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:7847399C>A ENST00000328375.1 - 1 120 c.121G>T c.(121-123)Ggt>Tgt p.G41C RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G41C(1) autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTGATATTACCCATTAAGGTG 0.368000 31 80 3.73148e-12 4.92104e-12 1 1 0 METTL3 56339 broad.mit.edu 37 14 21967720 21967720 + Missense_Mutation SNP A A C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:21967720A>C ENST00000298717.4 - 8 1519 c.1368T>G c.(1366-1368)atT>atG p.I456M NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 456 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) TCTTCACCCAAATAATTTCAT 0.443000 98 127 0 0 1 0 0 DMTN 2039 broad.mit.edu 37 8 21931325 21931325 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:21931325G>A ENST00000358242.3 + 10 1307 c.814G>A c.(814-816)Gac>Aac p.D272N DMTN_ENST00000523782.2_Missense_Mutation_p.D247N|DMTN_ENST00000519907.1_Missense_Mutation_p.D272N|DMTN_ENST00000517600.1_Missense_Mutation_p.D232N|DMTN_ENST00000443491.2_Missense_Mutation_p.D247N|DMTN_ENST00000432128.1_Missense_Mutation_p.D272N|DMTN_ENST00000381470.3_Missense_Mutation_p.D272N|DMTN_ENST00000415253.1_Missense_Mutation_p.D272N|DMTN_ENST00000523266.1_Missense_Mutation_p.D272N|DMTN_ENST00000265800.5_Missense_Mutation_p.D272N dematin actin binding protein CTCTCTGCCTGACCGGACACC 0.527000 4 55 0 0 1 0 0 UNKL 64718 broad.mit.edu 37 16 1449456 1449456 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:1449456C>A ENST00000389221.4 - 5 652 c.653G>T c.(652-654)cGc>cTc p.R218L UNKL_ENST00000508903.2_Missense_Mutation_p.R218L|UNKL_ENST00000397462.1_Missense_Mutation_p.R321L|UNKL_ENST00000301712.5_Missense_Mutation_p.R218L NM_001193388.1 NP_001180317.1 Q9H9P5 UNKL_HUMAN unkempt family zinc finger-like 218 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) GCGGCACAGGCGTGGCGGCTT 0.652000 3 7 0.004672 0.00489626 1 1 0 PLCH2 9651 broad.mit.edu 37 1 2408085 2408085 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:2408085G>T ENST00000419816.2 + 1 332 c.58G>T c.(58-60)Gcg>Tcg p.A20S PLCH2_ENST00000449969.1_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A20S|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_5'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.A20S O75038 PLCH2_HUMAN phospholipase C, eta 2 20 Necessary for plasma membrane localization (By similarity). intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGCCTGGCTGGCGGAGGTACT 0.677000 8 21 0.307466 0.309039 1 1 0 ID2 3398 broad.mit.edu 37 2 8822431 8822431 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:8822431C>A ENST00000234091.4 + 3 996 c.136C>A c.(136-138)Ctc>Atc p.L46I ID2_ENST00000396290.1_Missense_Mutation_p.L46I|ID2_ENST00000331129.3_Missense_Mutation_p.L46I Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 46 Helix-loop-helix motif. cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTACTCCAAGCTCAAGGAGCT 0.562000 4 77 1 1 1 1 0 MAPK10 5602 broad.mit.edu 37 4 87028499 87028499 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:87028499C>A ENST00000395169.3 - 5 849 c.129G>T c.(127-129)gcG>gcT p.A43A MAPK10_ENST00000395166.1_Silent_p.A43A|MAPK10_ENST00000359221.3_Silent_p.A81A|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395161.2_Silent_p.A81A|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000361569.2_Silent_p.A81A|MAPK10_ENST00000513839.1_5'UTR NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 81 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CAGCATCATACGCGGCACTGT 0.443000 22 18 4.35082e-09 5.44545e-09 1 1 0 CUBN 8029 broad.mit.edu 37 10 17157487 17157487 + Nonsense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr10:17157487G>A ENST00000377833.4 - 7 768 c.703C>T c.(703-705)Cga>Tga p.R235* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 235 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCTTGCTCTCGCATTAAATCC 0.557000 21 22 0 0 1 0 0 MOSPD2 158747 broad.mit.edu 37 X 14933885 14933885 + Splice_Site SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:14933885G>A ENST00000380492.3 + 12 1273 c.1186_splice c.e12+1 p.G395_splice MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Splice_Site_p.G395_splice NM_001177475.1|NM_152581.3 NP_001170946.1|NP_689794.1 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 395 MSP. integral to membrane structural molecule activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) CTCCCCATGGGGGTGAGTTGT 0.522000 9 119 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059108 152059108 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:152059108C>A ENST00000368806.1 - 3 1114 c.1050G>T c.(1048-1050)ttG>ttT p.L350F NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 350 calcium ion binding p.L350F(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CAGGTTCACCCAAATTCTTTG 0.418000 46 284 2.215e-12 2.93096e-12 1 1 0 STAB2 55576 broad.mit.edu 37 12 104089338 104089338 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:104089338C>T ENST00000388887.2 + 32 3590 c.3386C>T c.(3385-3387)cCa>cTa p.P1129L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1129 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTGCTGGTCCCACAAAGACGT 0.473000 40 34 0 0 1 0 0 NKX3-2 579 broad.mit.edu 37 4 13546029 13546029 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:13546029G>C ENST00000382438.5 - 1 645 c.10C>G c.(10-12)Cgc>Ggc p.R4G NM_001189.3 NP_001180.1 P78367 NKX32_HUMAN NK3 homeobox 2 4 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 TTGGCGCCGCGCACAGCCATC 0.771000 6 4 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201435 24201435 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:24201435C>T ENST00000536471.1 - 3 931 c.673G>A c.(673-675)Ggc>Agc p.G225S CNR2_ENST00000374472.4_Missense_Mutation_p.G225S P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 225 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TCCTGGTGGCCAGACAAGCTG 0.572000 21 38 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46804900 46804900 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr22:46804900C>A ENST00000262738.3 - 9 5218 c.5219G>T c.(5218-5220)cGc>cTc p.R1740L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1740 Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CACCTGGAGGCGAAAGCTGGT 0.667000 12 47 2.27111e-07 2.71291e-07 1 1 0 TRPM2 7226 broad.mit.edu 37 21 45799050 45799050 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr21:45799050G>A ENST00000397928.1 + 8 1630 c.1185G>A c.(1183-1185)acG>acA p.T395T TRPM2_ENST00000300481.9_Silent_p.T395T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.T395T|TRPM2_ENST00000397932.2_Silent_p.T395T NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 395 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AGACCTTCACGGAAAGCAGGA 0.557000 20 90 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187630767 187630767 + Missense_Mutation SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:187630767T>C ENST00000441802.2 - 2 424 c.215A>G c.(214-216)tAc>tGc p.Y72C NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 72 Cadherin 1. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AACAATTTTGTACCTTACTTC 0.438000 HNSCC(5;0.00058) 13 14 0 0 1 0 0 KLK10 5655 broad.mit.edu 37 19 51518152 51518152 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:51518152C>A ENST00000309958.3 - 6 953 c.735G>T c.(733-735)tgG>tgT p.W245C KLK10_ENST00000358789.3_Missense_Mutation_p.W245C|KLK10_ENST00000391805.1_Missense_Mutation_p.W245C NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 245 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) GGTAAACACCCCACGAGAGGA 0.542000 33 25 1.836e-18 2.71259e-18 1 1 0 TPR 7175 broad.mit.edu 37 1 186296651 186296651 + Missense_Mutation SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:186296651T>C ENST00000367478.3 - 40 6126 c.5830A>G c.(5830-5832)Att>Gtt p.I1944V NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1944 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) tcaATTACAATGACATCATCT 0.383000 T NTRK1 papillary thyroid 19 21 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717002 222717002 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:222717002C>T ENST00000343410.6 - 2 909 c.851G>A c.(850-852)cGc>cAc p.R284H NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 284 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding p.R284H(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GCGATTGTGGCGGAATTTGGG 0.483000 57 282 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216850552 216850552 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:216850552T>A ENST00000391890.3 - 4 786 c.269A>T c.(268-270)cAg>cTg p.Q90L ESRRG_ENST00000361395.2_Missense_Mutation_p.Q90L|ESRRG_ENST00000360012.3_Missense_Mutation_p.Q90L|ESRRG_ENST00000487276.1_Missense_Mutation_p.Q90L|ESRRG_ENST00000366937.1_Missense_Mutation_p.Q118L|ESRRG_ENST00000366938.2_Missense_Mutation_p.Q90L|ESRRG_ENST00000493748.1_Missense_Mutation_p.Q90L|ESRRG_ENST00000408911.3_Missense_Mutation_p.Q113L|ESRRG_ENST00000493603.1_Missense_Mutation_p.Q90L|ESRRG_ENST00000359162.2_Missense_Mutation_p.Q90L|ESRRG_ENST00000361525.3_Missense_Mutation_p.Q90L|ESRRG_ENST00000366940.2_Missense_Mutation_p.Q90L|ESRRG_ENST00000463665.1_Missense_Mutation_p.Q90L NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 113 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) ACACTTGGTCTGGGGATCTTC 0.512000 62 173 0 0 1 0 0 MOS 4342 broad.mit.edu 37 8 57026076 57026076 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:57026076C>A ENST00000311923.1 - 1 465 c.466G>T c.(466-468)Ggc>Tgc p.G156C NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 156 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) TCAGGGTGGCCGGCGGCGCCA 0.587000 50 101 2.81731e-22 4.41116e-22 1 1 0 COL5A1 1289 broad.mit.edu 37 9 137630337 137630337 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:137630337C>T ENST00000371817.3 + 10 1821 c.1407C>T c.(1405-1407)ggC>ggT p.G469G NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 469 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCATCGAGGGCCCGCCTGGCC 0.642000 11 45 0 0 1 0 0 KIF2C 11004 broad.mit.edu 37 1 45221600 45221600 + Splice_Site SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:45221600G>T ENST00000372217.1 + 8 948 c.e8-1 KIF2C_ENST00000372218.4_Splice_Site|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372222.3_Splice_Site|KIF2C_ENST00000372224.4_Splice_Site Q99661 KIF2C_HUMAN kinesin family member 2C blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) TCCGCTTGCAGATCGAAGAGC 0.502000 10 52 1.58986e-06 1.87633e-06 1 1 0 IQUB 154865 broad.mit.edu 37 7 123150032 123150032 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:123150032G>A ENST00000466202.1 - 3 1031 c.455C>T c.(454-456)aCc>aTc p.T152I IQUB_ENST00000324698.6_Missense_Mutation_p.T152I|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.T152I Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 152 Ubiquitin-like. breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TTTAAGAATGGTATCAACCTT 0.313000 7 210 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216850551 216850551 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:216850551C>T ENST00000391890.3 - 4 787 c.270G>A c.(268-270)caG>caA p.Q90Q ESRRG_ENST00000361395.2_Silent_p.Q90Q|ESRRG_ENST00000360012.3_Silent_p.Q90Q|ESRRG_ENST00000487276.1_Silent_p.Q90Q|ESRRG_ENST00000366937.1_Silent_p.Q118Q|ESRRG_ENST00000366938.2_Silent_p.Q90Q|ESRRG_ENST00000493748.1_Silent_p.Q90Q|ESRRG_ENST00000408911.3_Silent_p.Q113Q|ESRRG_ENST00000493603.1_Silent_p.Q90Q|ESRRG_ENST00000359162.2_Silent_p.Q90Q|ESRRG_ENST00000361525.3_Silent_p.Q90Q|ESRRG_ENST00000366940.2_Silent_p.Q90Q|ESRRG_ENST00000463665.1_Silent_p.Q90Q NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 113 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CACACTTGGTCTGGGGATCTT 0.512000 62 174 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 111 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1102165 1102165 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:1102165G>T ENST00000441003.2 + 44 7828 c.7801G>T c.(7801-7803)Gcc>Tcc p.A2601S NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4963 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CAACGTCATCGCCTGCACCCA 0.627000 36 83 7.04047e-22 1.09798e-21 1 1 0 SP7 121340 broad.mit.edu 37 12 53723141 53723141 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:53723141C>T ENST00000536324.2 - 3 368 c.85G>A c.(85-87)Ggc>Agc p.G29S SP7_ENST00000303846.3_Missense_Mutation_p.G29S|SP7_ENST00000537210.2_Missense_Mutation_p.G11S NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GGGCTAGAGCCACCAAATTTG 0.577000 45 39 0 0 1 0 0 BHMT2 23743 broad.mit.edu 37 5 78376511 78376511 + Splice_Site SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:78376511G>A ENST00000255192.3 + 4 326 c.258_splice c.e4-1 p.W87_splice DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 87 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) TAACCTCAGTGGGAAGATGTA 0.433000 69 58 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71398132 71398132 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:71398132C>T ENST00000392650.3 - 19 2633 c.2633G>A c.(2632-2634)gGg>gAg p.G878E SDK2_ENST00000388726.3_Missense_Mutation_p.G878E NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 878 Fibronectin type-III 3. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGGCCCGTCCCCGGGGGTGGT 0.652000 17 25 0 0 1 0 0 ZNF586 54807 broad.mit.edu 37 19 58291139 58291139 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:58291139A>T ENST00000391702.3 + 4 1422 c.1055A>T c.(1054-1056)cAt>cTt p.H352L ZNF586_ENST00000396154.2_Missense_Mutation_p.H395L|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR NM_001204814.1 NP_001191743.1 Q9NXT0 ZN586_HUMAN zinc finger protein 586 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGAGAGTTCATACTGGAATG 0.438000 27 34 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195611830 195611830 + Silent SNP G G A rs56054753 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:195611830G>A ENST00000333602.6 - 4 926 c.309C>T c.(307-309)ccC>ccT p.P103P TNK2_ENST00000316664.3_Silent_p.P103P|TNK2_ENST00000392400.1_Silent_p.P103P|TNK2_ENST00000428187.1_Silent_p.P135P|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Silent_p.P166P NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 103 SAM-like domain. positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CCCCAGGGGCGGGCGAGGTCT 0.647000 31 27 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43898596 43898596 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr22:43898596G>A ENST00000417669.1 + 6 1265 c.821G>A c.(820-822)cGc>cAc p.R274H MPPED1_ENST00000542779.1_Missense_Mutation_p.R274H|MPPED1_ENST00000439548.1_Missense_Mutation_p.R116H|MPPED1_ENST00000414469.2_Missense_Mutation_p.R168H|MPPED1_ENST00000443721.1_Missense_Mutation_p.R274H|MPPED1_ENST00000538182.1_Missense_Mutation_p.R307H O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 274 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GTGCAGAGGCGCGTCCAGCCG 0.622000 45 115 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14406721 14406721 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:14406721C>T ENST00000344204.4 + 33 4923 c.4899C>T c.(4897-4899)agC>agT p.S1633S TRIO_ENST00000537187.1_Silent_p.S1633S NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1633 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ACGGCAGCAGCCAGCCTGATA 0.567000 69 259 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 484705 484705 + Missense_Mutation SNP C C A rs139989045 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:484705C>A ENST00000264938.3 - 5 871 c.862G>T c.(862-864)Ggc>Tgc p.G288C SLC9A3_ENST00000514375.1_Missense_Mutation_p.G288C NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 288 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AACACGAAGCCGGGCTCGATG 0.627000 31 87 1.16021e-09 1.46612e-09 1 1 0 DUOX2 50506 broad.mit.edu 37 15 45393006 45393006 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:45393006G>A ENST00000389039.6 - 23 3337 c.2952C>T c.(2950-2952)gcC>gcT p.A984A DUOX2_ENST00000603300.1_Silent_p.A984A Q9NRD8 DUOX2_HUMAN dual oxidase 2 984 Interaction with TXNDC11 (By similarity). A -> V (in Ref. 2; AAF78954). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGGCTTCTGGGGCAGGGGGCC 0.582000 55 69 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70356419 70356419 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:70356419C>A ENST00000333646.6 + 37 5513 c.5314C>A c.(5314-5316)Ccg>Acg p.P1772T MED12_ENST00000374080.3_Missense_Mutation_p.P1772T|MED12_ENST00000374102.1_Missense_Mutation_p.P1772T|MED12_ENST00000478889.1_3'UTR NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1772 Interaction with CTNNB1 and GLI3.|Pro-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) AACTGACAAACCGGGGGCTGC 0.612000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 5 19 1.23904e-05 1.40329e-05 1 1 0 MYH6 4624 broad.mit.edu 37 14 23851721 23851721 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:23851721C>T ENST00000405093.3 - 38 5782 c.5712G>A c.(5710-5712)gaG>gaA p.E1904E MYH6_ENST00000356287.3_Silent_p.E1904E NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1904 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCTCATCCAGCTCATGCTGCA 0.607000 45 134 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151900020 151900020 + Splice_Site SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:151900020T>C ENST00000355193.2 - 26 4309 c.4092_splice c.e26+1 p.Q1364_splice KMT2C_ENST00000262189.6_Splice_Site_p.Q1364_splice lysine (K)-specific methyltransferase 2C AAATATTACTTGTAAATAGGC 0.269000 4 17 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137710864 137710864 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:137710864G>A ENST00000371817.3 + 57 4825 c.4411G>A c.(4411-4413)Ggc>Agc p.G1471S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1471 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGGACTTCCCGGCCTCAAAGG 0.602000 13 39 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135776873 135776873 + Splice_Site SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:135776873T>A ENST00000367800.4 - 8 1559 c.1344_splice c.e8+1 p.E448_splice AHI1_ENST00000327035.6_Splice_Site_p.E448_splice|AHI1_ENST00000457866.2_Splice_Site_p.E448_splice NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 448 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) AATTCATACCTCAAAGAACAG 0.318000 4 11 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26377323 26377323 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr10:26377323C>A ENST00000265944.5 + 15 1717 c.1551C>A c.(1549-1551)atC>atA p.I517I MYO3A_ENST00000543632.1_Silent_p.I517I NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 517 Myosin head-like. 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 NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CCCGAGTTATCCACCAAGCTA 0.348000 15 24 6.72482e-11 8.7223e-11 1 1 0 EIF3J 8669 broad.mit.edu 37 15 44829397 44829397 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:44829397C>A ENST00000261868.5 + 1 143 c.5C>A c.(4-6)gCg>gAg p.A2E EIF3J_ENST00000424492.3_Missense_Mutation_p.A2E|EIF3J_ENST00000535391.1_Missense_Mutation_p.A2E NM_003758.2 NP_003749.2 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, subunit J 2 Poly-Ala.|Sufficient for interaction with EIF3B. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) CTCGAGATggcggcggcggcg 0.721000 11 18 0.00829132 0.00866619 1 1 0 OR4C13 283092 broad.mit.edu 37 11 49974506 49974506 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:49974506G>A ENST00000555099.1 + 1 564 c.532G>A c.(532-534)Gat>Aat p.D178N NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CTTTATGTGTGATCTCTACAC 0.423000 50 131 0 0 1 0 0 OR13C9 286362 broad.mit.edu 37 9 107379541 107379541 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:107379541G>C ENST00000259362.1 - 1 944 c.945C>G c.(943-945)ttC>ttG p.F315L NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 ACTTGCTAAAGAACCTTCTGT 0.353000 6 130 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27283247 27283247 + Missense_Mutation SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:27283247C>G ENST00000317338.12 - 16 3310 c.2882G>C c.(2881-2883)cGc>cCc p.R961P SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000335960.6_Silent_p.P493P|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|PIPOX_ENST00000583215.1_Intron Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 961 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) ggggcgggggcggggCAGCTG 0.582000 5 1 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766182 77766182 + Missense_Mutation SNP A A C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:77766182A>C ENST00000521891.2 + 10 7473 c.7025A>C c.(7024-7026)gAt>gCt p.D2342A ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2297A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2297A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2316A NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2297 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAGATGATGATGCCCAAGAT 0.433000 HNSCC(33;0.089) 93 143 0 0 1 0 0 IDH3G 3421 broad.mit.edu 37 X 153052970 153052970 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:153052970G>T ENST00000370092.3 - 8 808 c.623C>A c.(622-624)gCg>gAg p.A208E IDH3G_ENST00000427365.2_Missense_Mutation_p.A150E|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.A208E|IDH3G_ENST00000217901.5_Missense_Mutation_p.A208E NM_174869.2 NP_777358.1 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma 208 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding p.A208V(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1) 17 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) GCTCTCCTGCGCCAGCTTGAA 0.607000 13 71 0.000151284 0.000167478 1 1 0 NALCN 259232 broad.mit.edu 37 13 101881765 101881765 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr13:101881765G>T ENST00000251127.6 - 13 1686 c.1605C>A c.(1603-1605)gaC>gaA p.D535E NALCN_ENST00000376196.3_Missense_Mutation_p.D535E|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 535 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAGTAAATCTGTCCAGTTCTT 0.338000 63 55 1.12357e-39 1.98011e-39 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34962803 34962803 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:34962803G>C ENST00000329357.5 + 1 1891 c.1855G>C c.(1855-1857)Gac>Cac p.D619H NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 619 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 ATGGACTTACGACTCTGTTAA 0.398000 5 220 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961919 34961919 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:34961919C>A ENST00000329357.5 + 1 1007 c.971C>A c.(970-972)cCc>cAc p.P324H NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 324 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCGGAGCCTCCCGAGGCTGGA 0.587000 51 53 2.12129e-23 3.37516e-23 1 1 0 MUC20 200958 broad.mit.edu 37 3 195453013 195453013 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:195453013C>T ENST00000320736.6 + 3 1152 c.1026C>T c.(1024-1026)ccC>ccT p.P342P MUC20_ENST00000447234.2_Silent_p.P513P|MUC20_ENST00000445522.2_Silent_p.P478P|MUC20_ENST00000436408.1_Silent_p.P513P NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 513 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TGACAGCACCCGGGGCCACGA 0.582000 15 37 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41008369 41008369 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:41008369G>T ENST00000308423.2 + 4 2254 c.2094G>T c.(2092-2094)ggG>ggT p.G698G AOC3_ENST00000591562.1_Silent_p.G155G NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 698 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) TGACTGTGGGGAACGGCGTGG 0.542000 39 172 9.85521e-28 1.64114e-27 1 1 0 MIR1324 100302212 broad.mit.edu 37 3 75679990 75679990 + RNA SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:75679990G>T ENST00000408868.1 + 0 77 NR_031714.1 AGAATTCTATGCACTTTCCTG 0.517000 9 89 0.000673444 0.000727098 1 1 0 MCM8 84515 broad.mit.edu 37 20 5932736 5932736 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr20:5932736G>A ENST00000378896.3 + 2 452 c.75G>A c.(73-75)ggG>ggA p.G25G MCM8_ENST00000265187.4_Silent_p.G25G|MCM8_ENST00000378886.2_Silent_p.G25G|MCM8_ENST00000378883.1_Silent_p.G25G NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 25 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 GAGGTGGTGGGAACTTCTCAG 0.408000 13 71 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47107248 47107248 + Silent SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:47107248G>C ENST00000377107.2 + 21 3036 c.2682G>C c.(2680-2682)ctG>ctC p.L894L USP11_ENST00000218348.3_Silent_p.L937L P51784 UBP11_HUMAN ubiquitin specific peptidase 11 937 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 GACGCCTGCTGTCCCCGGCCG 0.647000 4 40 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28733664 28733664 + RNA SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:28733664C>A ENST00000550043.1 + 0 69 GCCCCCGGGCCGCGGCGCTCC 0.662000 2 2 0.0016 0.00172274 1 1 0 ZNF536 9745 broad.mit.edu 37 19 31040252 31040252 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:31040252G>A ENST00000355537.3 + 4 3873 c.3726G>A c.(3724-3726)caG>caA p.Q1242Q NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TCCAAGCCCAGGACCCCTTGG 0.647000 12 34 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105139429 105139429 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr10:105139429G>T ENST00000369839.3 + 4 1201 c.1178G>T c.(1177-1179)gGa>gTa p.G393V TAF5_ENST00000351396.4_Missense_Mutation_p.G393V NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 393 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GATGAAGAGGGAGAAAATGAA 0.343000 14 7 4.36969e-10 5.61205e-10 1 1 0 CYP2C19 1557 broad.mit.edu 37 10 96580312 96580312 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr10:96580312C>T ENST00000371321.3 + 6 961 c.879C>T c.(877-879)gaC>gaT p.D293D CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 293 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CTGCAGCTGACTTACTTGGAG 0.423000 31 89 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20370789 20370789 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:20370789G>T ENST00000302451.4 - 12 1855 c.1607C>A c.(1606-1608)cCt>cAt p.P536H NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 536 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 CTCCAGCTCAGGCGACTGCTG 0.502000 45 178 1.8453e-21 2.85512e-21 1 1 0 NRXN2 9379 broad.mit.edu 37 11 64428238 64428238 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:64428238C>A ENST00000265459.6 - 10 2633 c.2172G>T c.(2170-2172)cgG>cgT p.R724R NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Silent_p.R693R|NRXN2_ENST00000409571.1_Silent_p.R717R|NRXN2_ENST00000377551.1_Silent_p.R724R NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 724 EGF-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TCTCACAGACCCGCCCAAGAA 0.592000 38 95 4.32679e-17 6.36865e-17 1 1 0 MOSPD2 158747 broad.mit.edu 37 X 14933886 14933886 + Splice_Site SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:14933886G>A ENST00000380492.3 + 12 1274 c.1186_splice c.e12+1 p.G396_splice MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Splice_Site_p.G396_splice NM_001177475.1|NM_152581.3 NP_001170946.1|NP_689794.1 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 396 MSP. integral to membrane structural molecule activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) TCCCCATGGGGGTGAGTTGTC 0.522000 9 120 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39472856 39472856 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:39472856C>T ENST00000518318.2 + 7 1249 c.1207C>T c.(1207-1209)Ctg>Ttg p.L403L POU6F2_ENST00000559001.1_Silent_p.L348L|POU6F2_ENST00000403058.1_Silent_p.L403L P78424 PO6F2_HUMAN POU class 6 homeobox 2 403 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GGGCATCACGCTGTCACCCAT 0.587000 30 59 0 0 1 0 0 ZFP30 22835 broad.mit.edu 37 19 38126228 38126228 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:38126228A>T ENST00000351218.2 - 6 1771 c.1214T>A c.(1213-1215)aTt>aAt p.I405N ZFP30_ENST00000514101.2_Missense_Mutation_p.I405N|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.I405N NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTCTCTCCAATGTGAATACC 0.388000 10 46 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139350537 139350537 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:139350537C>A ENST00000313050.7 - 17 5705 c.5632G>T c.(5632-5634)Gtt>Ttt p.V1878F SEC16A_ENST00000290037.6_Missense_Mutation_p.V1700F|SEC16A_ENST00000371706.3_Missense_Mutation_p.V1700F|SEC16A_ENST00000431893.2_Missense_Mutation_p.V1700F NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1700 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) TGCAGGTGAACCAGCCACGTG 0.572000 14 56 0.00185496 0.0019918 1 1 0 CT45A5 441521 broad.mit.edu 37 X 134948043 134948043 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:134948043C>A ENST00000370724.3 - 3 526 c.282G>T c.(280-282)gtG>gtT p.V94V CT45A5_ENST00000491480.1_Silent_p.V94V|CT45A4_ENST00000420087.2_Intron NM_001007551.3|NM_001172288.1 NP_001007552.1|NP_001165759.1 Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 94 endometrium(1)|large_intestine(2)|lung(6) 9 CATTTCCTCCCACAGGTGCAT 0.433000 143 182 3.75851e-85 6.80689e-85 1 1 0 CCDC17 149483 broad.mit.edu 37 1 46086760 46086760 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:46086760A>T ENST00000421127.2 - 11 1530 c.1387T>A c.(1387-1389)Ttg>Atg p.L463M CCDC17_ENST00000343901.2_Missense_Mutation_p.L440M|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000464739.1_5'UTR|CCDC17_ENST00000528266.1_Missense_Mutation_p.L472M NM_001114938.2|NM_001190182.1 NP_001108410.2|NP_001177111.1 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 472 kidney(1)|large_intestine(1)|lung(1)|ovary(2) 5 Acute lymphoblastic leukemia(166;0.155) TCACAGACCAAAGATACTGAT 0.522000 9 27 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1654058 1654058 + Translation_Start_Site SNP C C T rs61777495 by1000genomes TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:1654058C>T ENST00000356200.3 - 0 212 CDK11A_ENST00000357760.2_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000378635.3_Intron|CDK11A_ENST00000358779.5_Intron|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 AAGAACTTCACCGAAGAAGCG 0.338000 4 60 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754453 76754453 + Missense_Mutation SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr18:76754453C>G ENST00000536229.3 + 1 2772 c.2063C>G c.(2062-2064)cCa>cGa p.P688R SALL3_ENST00000537592.2_Missense_Mutation_p.P821R|SALL3_ENST00000575389.2_Missense_Mutation_p.P821R Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 821 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCGGCCAAGCCACTCCTGTCC 0.637000 10 33 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644447 20644447 + RNA SNP T T G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:20644447T>G ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AGACGGCCACTCACCTCTGAG 0.637000 4 41 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65423256 65423256 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:65423256A>T ENST00000519389.1 + 13 2469 c.2290A>T c.(2290-2292)Agg>Tgg p.R764W HEPH_ENST00000441993.2_Missense_Mutation_p.R713W|HEPH_ENST00000343002.2_Missense_Mutation_p.R710W|HEPH_ENST00000336279.5_Missense_Mutation_p.R443W|HEPH_ENST00000419594.1_Missense_Mutation_p.R521W|HEPH_ENST00000374727.3_Missense_Mutation_p.R713W Q9BQS7 HEPH_HUMAN hephaestin 710 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 AGCAGGGATGAGGGCAATCTA 0.502000 10 71 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10934073 10934073 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr21:10934073T>A ENST00000298232.7 - 15 1217 c.850A>T c.(850-852)Atc>Ttc p.I284F TPTE_ENST00000342420.5_Missense_Mutation_p.I264F|TPTE_ENST00000361285.4_Missense_Mutation_p.I302F|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 302 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAATCATGATTCTAACGACC 0.318000 28 123 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138886710 138886710 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:138886710G>T ENST00000370557.1 - 6 1502 c.475C>A c.(475-477)Ctt>Att p.L159I ATP11C_ENST00000327569.3_Missense_Mutation_p.L162I|ATP11C_ENST00000370543.1_Missense_Mutation_p.L162I|ATP11C_ENST00000361648.2_Missense_Mutation_p.L162I|ATP11C_ENST00000359686.2_Missense_Mutation_p.L162I Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 162 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) AGAAGAATAAGATCACAGGGA 0.378000 7 240 0.00198382 0.00211859 1 1 0 ROR2 4920 broad.mit.edu 37 9 94519681 94519681 + Silent SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:94519681C>G ENST00000375708.3 - 3 534 c.336G>C c.(334-336)cgG>cgC p.R112R ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 112 Ig-like C2-type. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ATTCTGTCTTCCGGATGATGA 0.577000 31 118 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73046905 73046905 + RNA SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:73046905C>A ENST00000604411.1 + 0 34866 XIST_ENST00000429829.1_lincRNA NR_003255.2 TCTCAAGTCTCAAACCATCTG 0.463000 44 59 3.76604e-16 5.38201e-16 1 1 0 UBE2A 7319 broad.mit.edu 37 X 118717138 118717138 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:118717138G>T ENST00000371569.5 + 3 1400 c.154G>T c.(154-156)Gct>Tct p.A52S UBE2A_ENST00000371558.2_Missense_Mutation_p.A127S|UBE2A_ENST00000346330.3_Missense_Mutation_p.A97S NM_181777.1 NP_861442.1 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A 127 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity haematopoietic_and_lymphoid_tissue(1)|lung(7) 8 CAGCCAGGCTGCTCAGCTGTA 0.413000 Rad6 pathway 17 117 9.16793e-09 1.13302e-08 1 1 0 ZNF536 9745 broad.mit.edu 37 19 31039840 31039840 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:31039840G>T ENST00000355537.3 + 4 3461 c.3314G>T c.(3313-3315)tGt>tTt p.C1105F NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCTGCATTTTGTAACTTCCCA 0.552000 14 85 7.93312e-07 9.41908e-07 1 1 0 CCDC34 91057 broad.mit.edu 37 11 27379015 27379015 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:27379015A>T ENST00000317945.6 - 2 472 c.433T>A c.(433-435)Tgg>Agg p.W145R CCDC34_ENST00000328697.6_Missense_Mutation_p.W145R NM_080654.2 NP_542385.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 145 endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 CACACCTCCCATGGTGTCAGG 0.418000 41 102 0 0 1 0 0 TFDP3 51270 broad.mit.edu 37 X 132351985 132351985 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:132351985G>C ENST00000310125.4 - 1 391 c.303C>G c.(301-303)aaC>aaG p.N101K NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 101 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) CTCCTTTCCTGTTGTGCTGCC 0.572000 43 71 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23522967 23522967 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:23522967G>T ENST00000296682.3 + 8 1037 c.855G>T c.(853-855)gaG>gaT p.E285D NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 285 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AAGACGAAGAGGCAGCCAACA 0.537000 HNSCC(3;0.000094) 44 107 1.00001e-27 1.65824e-27 1 1 0 PRCP 5547 broad.mit.edu 37 11 82561106 82561106 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:82561106C>A ENST00000313010.3 - 5 795 c.601G>T c.(601-603)Gca>Tca p.A201S PRCP_ENST00000393399.2_Missense_Mutation_p.A222S|PRCP_ENST00000535099.1_Missense_Mutation_p.A96S NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 201 SKS domain. blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 GCAGAAGCTGCAAGAGCTCTA 0.313000 11 20 3.86212e-05 4.31197e-05 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11672496 11672496 + Missense_Mutation SNP A A G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:11672496A>G ENST00000262442.3 + 38 7470 c.7402A>G c.(7402-7404)Atg>Gtg p.M2468V DNAH9_ENST00000454412.2_Missense_Mutation_p.M2468V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2468 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGAGCGGTTGATGGCGCGGCA 0.622000 24 65 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385021 41385021 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr21:41385021G>T ENST00000400454.1 - 33 6456 c.5979C>A c.(5977-5979)ctC>ctA p.L1993L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1993 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCCGGGAGTCGAGCAGTGATT 0.532000 23 34 0.000375601 0.000413477 1 1 0 INS-IGF2 723961 broad.mit.edu 37 11 2182185 2182185 + Missense_Mutation SNP C C G rs121908259 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:2182185C>G ENST00000397270.1 - 2 75 c.17G>C c.(16-18)cGc>cCc p.R6P INS_ENST00000250971.3_Missense_Mutation_p.R6P|INS_ENST00000512523.1_Missense_Mutation_p.R6P|INS_ENST00000397262.1_Missense_Mutation_p.R6P|INS_ENST00000381330.4_Missense_Mutation_p.R6P NM_001042376.2 NP_001035835.1 Q1WM24 Q1WM24_HUMAN 6 glucose metabolic process extracellular region hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 5 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) GGGCAGGAGGCGCATCCACAG 0.672000 26 38 0 0 1 0 0 FAM110B 90362 broad.mit.edu 37 8 59059603 59059603 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:59059603G>A ENST00000361488.3 + 5 1694 c.814G>A c.(814-816)Gcg>Acg p.A272T FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 272 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CCGAGTGGACGCGGACGTGGA 0.537000 65 102 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45802747 45802747 + Splice_Site SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr22:45802747C>G ENST00000357450.4 - 3 298 c.e3-1 SMC1B_ENST00000404354.3_Splice_Site NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GAGCATCCCCCTAAAATAAAA 0.294000 28 61 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111912617 111912617 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:111912617G>C ENST00000368761.5 - 2 1151 c.673C>G c.(673-675)Cag>Gag p.Q225E TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.Q234E|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.Q225E|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 234 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) GGGAGGTCCTGGGGGTAACAC 0.587000 53 119 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25877971 25877971 + Missense_Mutation SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr10:25877971T>C ENST00000376351.3 + 8 2148 c.1789T>C c.(1789-1791)Tgc>Cgc p.C597R NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 597 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGTTTATCTCTGCTATGCAGT 0.393000 8 24 0 0 1 0 0 PGA5 5222 broad.mit.edu 37 11 61017423 61017423 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:61017423C>T ENST00000312403.5 + 8 1139 c.954C>T c.(952-954)ccC>ccT p.P318P PGA5_ENST00000541528.1_Silent_p.P58P|PGA5_ENST00000451616.2_Silent_p.P164P|PGA4_ENST00000422676.2_Silent_p.P318P NM_014224.2 NP_055039.1 P00790 PEPA_HUMAN pepsinogen 5, group I (pepsinogen A) 318 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 GCAGCCTGCCCGACATCGTCT 0.562000 6 28 0 0 1 0 0 TRGV5 6978 broad.mit.edu 37 7 38389495 38389495 + RNA SNP C C A rs2012300 by1000genomes TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:38389495C>A ENST00000390344.2 - 0 128 CTTAAAACTCCGGCCCCACTC 0.542000 5 42 0.184627 0.186526 1 1 0 HIVEP1 3096 broad.mit.edu 37 6 12161913 12161913 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:12161913G>T ENST00000379388.2 + 8 7061 c.6729G>T c.(6727-6729)acG>acT p.T2243T HIVEP1_ENST00000541134.1_Silent_p.T108T NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2243 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GGGTACACACGGACCCAATGG 0.557000 16 45 3.45872e-05 3.89477e-05 1 1 0 OR14K1 343170 broad.mit.edu 37 1 247902351 247902351 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:247902351G>T ENST00000283225.2 + 1 435 c.435G>T c.(433-435)ctG>ctT p.L145L RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 TGATGGCTCTGTCCTGGCTCA 0.522000 21 128 2.37509e-13 3.21866e-13 1 1 0 FAM46D 169966 broad.mit.edu 37 X 79698698 79698698 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:79698698C>A ENST00000538312.1 + 5 994 c.660C>A c.(658-660)caC>caA p.H220Q FAM46D_ENST00000308293.5_Missense_Mutation_p.H220Q NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 220 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 ATTTGCAACACAAGCTCATAT 0.458000 9 84 1.76689e-08 2.15649e-08 1 1 0 HCFC1 3054 broad.mit.edu 37 X 153220168 153220168 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:153220168G>T ENST00000310441.7 - 17 4648 c.3682C>A c.(3682-3684)Ctt>Att p.L1228I HCFC1_ENST00000369984.4_Missense_Mutation_p.L1228I|HCFC1_ENST00000354233.3_Missense_Mutation_p.L1159I NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1228 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCGCAGGAAGGTCCTTAATG 0.677000 4 16 0.000602214 0.000653785 1 1 0 PRRX2 51450 broad.mit.edu 37 9 132481637 132481637 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:132481637C>T ENST00000372469.4 + 2 614 c.387C>T c.(385-387)ccC>ccT p.P129P NM_016307.3 NP_057391.1 Q99811 PRRX2_HUMAN paired related homeobox 2 129 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|pancreas(1) 3 Ovarian(14;0.00556) CGCACTACCCCGACGCCTTTG 0.701000 4 4 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73519244 73519244 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:73519244C>A ENST00000436467.2 - 2 1189 c.802G>T c.(802-804)Gct>Tct p.A268S EGR4_ENST00000545030.1_Missense_Mutation_p.A371S B7ZKU3 B7ZKU3_HUMAN early growth response 4 267 intracellular nucleic acid binding|zinc ion binding p.A268T(1) breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 AGCGGGAAAGCGTCATAGGCC 0.667000 5 12 1.024e-07 1.23445e-07 1 1 0 KRT19P2 160313 broad.mit.edu 37 12 95228661 95228661 + RNA SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:95228661G>T ENST00000405395.2 + 0 432 NR_036685.1 GCACCCTCCAGGGTCTTGAGA 0.567000 3 2 0.115264 0.117354 1 1 0 TRIM48 79097 broad.mit.edu 37 11 55032434 55032434 + Missense_Mutation SNP A A C rs112137140 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:55032434A>C ENST00000417545.2 + 2 189 c.103A>C c.(103-105)Atg>Ctg p.M35L NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 19 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CCCCATCTGCATGAACTACTT 0.493000 16 53 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157069054 157069054 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:157069054C>T ENST00000454449.2 - 2 459 c.175G>A c.(175-177)Gcc>Acc p.A59T NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 59 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) TGCTGCCAGGCGATGACATGG 0.577000 43 51 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197025028 197025028 + Splice_Site SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:197025028C>G ENST00000367412.1 - 8 1215 c.e8-1 NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TCATTATTTTCTAAGAAAAGA 0.333000 17 31 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158670188 158670188 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:158670188C>A ENST00000359610.2 - 1 298 c.255G>T c.(253-255)ctG>ctT p.L85L NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TCTCACTAAGCAGGCTAGACA 0.458000 25 125 7.33532e-06 8.47877e-06 1 1 0 UNC79 57578 broad.mit.edu 37 14 94084613 94084613 + Nonsense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:94084613C>T ENST00000553484.1 + 30 4520 c.4366C>T c.(4366-4368)Cag>Tag p.Q1456* UNC79_ENST00000555664.1_Nonsense_Mutation_p.Q1434*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.Q1257*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.Q1434* Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1434 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ACTCAATGCGCAGTATCATAG 0.428000 19 14 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46222881 46222881 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr10:46222881C>T ENST00000336378.4 + 2 138 c.20C>T c.(19-21)cCc>cTc p.P7L FAM21C_ENST00000374362.2_Missense_Mutation_p.P7L|FAM21C_ENST00000540872.1_Missense_Mutation_p.P7L|FAM21C_ENST00000359860.4_Missense_Mutation_p.P6L|FAM21C_ENST00000537517.1_Missense_Mutation_p.P7L NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 7 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 CGGACGACCCCCGACCAGGAG 0.721000 9 29 0 0 1 0 0 CEP85L 387119 broad.mit.edu 37 6 118803036 118803036 + Nonsense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:118803036T>A ENST00000368491.3 - 8 2272 c.1651A>T c.(1651-1653)Aaa>Taa p.K551* CEP85L_ENST00000368488.5_Nonsense_Mutation_p.K554* NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 551 centrosome TCTTCAAGTTTTTTTTCTGTA 0.318000 4 14 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19207480 19207480 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr22:19207480G>T ENST00000263200.10 - 18 2905 c.2833C>A c.(2833-2835)Cgc>Agc p.R945S CLTCL1_ENST00000427926.1_Missense_Mutation_p.R945S|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R945S NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 945 Heavy chain arm.|Proximal segment. R -> H (in dbSNP:rs36077768). anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity p.R945C(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) ACCAGGTAGCGGGCCTCGCTT 0.542000 T ? ALCL 78 191 4.12397e-46 7.36692e-46 1 1 0 MUC3A 4584 broad.mit.edu 37 7 100551755 100551755 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:100551755C>A ENST00000319509.7 + 1 506 c.506C>A c.(505-507)cCa>cAa p.P169Q mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACTCTTACTCCATCAACAGCC 0.493000 7 596 8.73648e-17 1.26695e-16 1 1 0 RYR1 6261 broad.mit.edu 37 19 39001376 39001376 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:39001376G>C ENST00000355481.4 + 60 9208 c.9077G>C c.(9076-9078)gGc>gCc p.G3026A RYR1_ENST00000360985.3_Missense_Mutation_p.G3026A|RYR1_ENST00000359596.3_Missense_Mutation_p.G3026A NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3026 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AAAGTGCTGGGCAGCGGTGGC 0.562000 48 164 0 0 1 0 0 RALA 5898 broad.mit.edu 37 7 39745819 39745819 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:39745819T>A ENST00000005257.2 + 5 976 c.596T>A c.(595-597)aTc>aAc p.I199N RALA_ENST00000468201.1_3'UTR NM_005402.3 NP_005393.2 P11233 RALA_HUMAN v-ral simian leukemia viral oncogene homolog A (ras related) 199 actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis cell surface|cleavage furrow|cytosol|midbody|plasma membrane Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3) 16 GCCAAGAGAATCAGAGAAAGA 0.318000 21 157 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059299 248059299 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:248059299C>T ENST00000537741.1 + 3 668 c.411C>T c.(409-411)aaC>aaT p.N137N OR2W3_ENST00000360358.3_Silent_p.N137N Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGATCATGAACCCCAGGCTCT 0.627000 36 73 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34642922 34642922 + Missense_Mutation SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:34642922T>C ENST00000537011.1 + 4 1209 c.827T>C c.(826-828)cTg>cCg p.L276P NUTM1_ENST00000438749.3_Missense_Mutation_p.L266P|NUTM1_ENST00000333756.4_Missense_Mutation_p.L248P NUT midline carcinoma, family member 1 CTTCGTTCCCTGGCCCGGCTG 0.542000 13 62 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409841 105409841 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:105409841G>A ENST00000333244.5 - 7 12066 c.11947C>T c.(11947-11949)Cca>Tca p.P3983S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3983 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 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) GACTTGCCTGGGGCAGACACC 0.612000 185 132 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107430450 107430450 + Silent SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:107430450T>C ENST00000394872.2 - 23 2061 c.1830A>G c.(1828-1830)aaA>aaG p.K610K COL4A6_ENST00000372216.4_Silent_p.K610K|COL4A6_ENST00000538570.1_Silent_p.K609K|COL4A6_ENST00000334504.7_Silent_p.K609K|COL4A6_ENST00000545689.1_Silent_p.K609K Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 610 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CAGGATGGCCTTTTTCACCAG 0.512000 Alport syndrome with Diffuse Leiomyomatosis 4 215 0 0 1 0 0 KIAA1715 80856 broad.mit.edu 37 2 176857914 176857914 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:176857914T>A ENST00000272748.4 - 3 312 c.65A>T c.(64-66)gAt>gTt p.D22V KIAA1715_ENST00000535310.1_5'UTR|KIAA1715_ENST00000466445.1_5'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.D22V NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 22 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) ACATACCTTATCTATACTTTC 0.289000 11 33 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118972225 118972225 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:118972225G>C ENST00000409993.2 - 3 1692 c.141C>G c.(139-141)aaC>aaG p.N47K DPAGT1_ENST00000354202.4_Missense_Mutation_p.N47K|DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 47 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) GGCTGGTTTTGTTGAGGTCCT 0.642000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 113 200 0 0 1 0 0 TRAK2 66008 broad.mit.edu 37 2 202245697 202245697 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:202245697C>A ENST00000332624.3 - 16 2742 c.2314G>T c.(2314-2316)Gct>Tct p.A772S NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 772 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 GAAGGGATAGCCAGGGATTTA 0.507000 53 168 7.47603e-22 1.1613e-21 1 1 0 FBN1 2200 broad.mit.edu 37 15 48829894 48829894 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:48829894C>A ENST00000316623.5 - 7 1105 c.650G>T c.(649-651)tGg>tTg p.W217L NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 217 TB 1. W -> G (in MFS). heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGGGTGGCCCCAGGCTCGGCC 0.597000 63 87 1.69475e-38 2.96017e-38 1 1 0 C2CD5 9847 broad.mit.edu 37 12 22680723 22680723 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:22680723T>A ENST00000333957.4 - 4 536 c.281A>T c.(280-282)gAt>gTt p.D94V C2CD5_ENST00000545552.1_Missense_Mutation_p.D94V|C2CD5_ENST00000542676.1_Missense_Mutation_p.D94V|C2CD5_ENST00000396028.2_Missense_Mutation_p.D94V|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000536386.1_Missense_Mutation_p.D94V|C2CD5_ENST00000446597.1_Missense_Mutation_p.D94V NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 CAGTAAAGGATCAATATCAAT 0.343000 39 24 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33667421 33667421 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:33667421G>T ENST00000321505.4 + 16 4888 c.4708G>T c.(4708-4710)Gca>Tca p.A1570S KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1576S KIAA1549-like CGCGGGCCACGCAGGCCAGAG 0.682000 21 36 4.35082e-09 5.44545e-09 1 1 0 ZMYM3 9203 broad.mit.edu 37 X 70473064 70473064 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:70473064G>T ENST00000373998.1 - 2 739 c.42C>A c.(40-42)acC>acA p.T14T ZMYM3_ENST00000353904.2_Silent_p.T14T|ZMYM3_ENST00000314425.5_Silent_p.T14T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.T14T|ZMYM3_ENST00000373984.3_Silent_p.T14T|ZMYM3_ENST00000373978.1_Silent_p.T14T|ZMYM3_ENST00000373981.1_Silent_p.T14T|ZMYM3_ENST00000373982.1_Silent_p.T14T NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 14 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TCTCTGGCAGGGTCAATGGGT 0.552000 OREG0019858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 18 0.014758 0.0152228 1 1 0 CCIN 881 broad.mit.edu 37 9 36170358 36170358 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:36170358C>A ENST00000335119.2 + 1 970 c.859C>A c.(859-861)Cag>Aag p.Q287K NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 287 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) CCTCGGTGGCCAGAAGGCCCA 0.577000 16 93 4.7546e-09 5.91316e-09 1 1 0 DLX5 1749 broad.mit.edu 37 7 96653918 96653918 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:96653918G>T ENST00000222598.4 - 1 491 c.18C>A c.(16-18)gaC>gaA p.D6E DLX5_ENST00000486603.2_Missense_Mutation_p.D6E|DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 6 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GGACCCTTCTGTCAAACACTC 0.627000 15 116 4.75885e-15 6.70332e-15 1 1 0 CBLN4 140689 broad.mit.edu 37 20 54579085 54579085 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr20:54579085G>T ENST00000064571.2 - 1 1443 c.143C>A c.(142-144)cCg>cAg p.P48Q NM_080617.4 NP_542184.1 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 48 cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) GTCCGTGGCCGGGTTCGAGTC 0.682000 22 94 3.5997e-14 4.9638e-14 1 1 0 DCTN5 84516 broad.mit.edu 37 16 23672586 23672586 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:23672586G>T ENST00000300087.2 + 4 483 c.332G>T c.(331-333)gGg>gTg p.G111V DCTN5_ENST00000568589.1_Missense_Mutation_p.G111V|DCTN5_ENST00000563998.1_Missense_Mutation_p.G111V NM_001199743.1|NM_032486.3 NP_001186672.1|NP_115875.1 Q9BTE1 DCTN5_HUMAN dynactin 5 (p25) 111 centrosome transferase activity endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(48;0.0156) GTTCATGTTGGGAAGAACTGT 0.458000 25 28 1.5548e-18 2.31453e-18 1 1 0 RPL23AP82 284942 broad.mit.edu 37 22 51237429 51237429 + RNA SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr22:51237429C>T ENST00000480246.1 + 0 679 NR_026982.1 TGAAGAAGCTCTATGACAGTG 0.463000 25 55 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182363444 182363444 + Silent SNP A A C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:182363444A>C ENST00000397033.2 + 15 2065 c.1635A>C c.(1633-1635)acA>acC p.T545T NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 545 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ACGTGATTACAGGAAGCATAC 0.368000 23 74 0 0 1 0 0 LPCAT2 54947 broad.mit.edu 37 16 55613087 55613087 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:55613087C>T ENST00000262134.5 + 13 1565 c.1381C>T c.(1381-1383)Ctt>Ttt p.L461F LPCAT2_ENST00000565056.1_3'UTR NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 461 EF-hand 2. cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 ACAGGCTTCCCTTGGAGTGCC 0.458000 13 67 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151260063 151260063 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:151260063C>T ENST00000368879.2 + 2 1394 c.1296C>T c.(1294-1296)acC>acT p.T432T NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGACTGCCACCAGCCCTAAGA 0.642000 54 64 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156912534 156912534 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:156912534C>A ENST00000368194.3 - 33 4313 c.3274G>T c.(3274-3276)Ggc>Tgc p.G1092C ARHGEF11_ENST00000361409.2_Missense_Mutation_p.G1052C|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G468C|ARHGEF11_ENST00000487682.1_5'UTR NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1052 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGTGGGCCCAGCTTGGAG 0.527000 14 104 4.7546e-09 5.91316e-09 1 1 0 TRPM7 54822 broad.mit.edu 37 15 50902102 50902102 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:50902102C>A ENST00000313478.7 - 18 2618 c.2337G>T c.(2335-2337)aaG>aaT p.K779N TRPM7_ENST00000560955.1_Missense_Mutation_p.K779N NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 779 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) ACATTTCAGCCTTAGTTTTAT 0.353000 26 45 1.2476e-16 1.8026e-16 1 1 0 PARD6G 84552 broad.mit.edu 37 18 78005177 78005177 + Missense_Mutation SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr18:78005177C>G ENST00000353265.3 - 1 252 c.55G>C c.(55-57)Gtg>Ctg p.V19L PARD6G_ENST00000470488.2_Missense_Mutation_p.V19L NM_032510.3 NP_115899.1 Q9BYG4 PAR6G_HUMAN par-6 family cell polarity regulator gamma 19 OPR. cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) TTGACTTCCACTGCGCTGCAA 0.667000 18 46 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154918652 154918652 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:154918652C>T ENST00000368463.3 - 10 1569 c.1498G>A c.(1498-1500)Gaa>Aaa p.E500K PBXIP1_ENST00000368465.1_Missense_Mutation_p.E471K|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E345K|PBXIP1_ENST00000539880.1_Missense_Mutation_p.E327K NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 500 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTCTTCCTTTCCCGGCCAGAT 0.577000 137 309 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85487876 85487876 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:85487876G>T ENST00000394573.1 + 17 1945 c.1743G>T c.(1741-1743)ctG>ctT p.L581L SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Silent_p.L581L|SLC28A1_ENST00000537624.1_Silent_p.L581L|SLC28A1_ENST00000538177.1_Silent_p.L415L NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 581 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTGTGTCCCTGGTGAACGCCT 0.632000 35 22 1.836e-18 2.71259e-18 1 1 0 CCHCR1 54535 broad.mit.edu 37 6 31112816 31112816 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:31112816G>A ENST00000396268.3 - 14 2099 c.1911C>T c.(1909-1911)gcC>gcT p.A637A CCHCR1_ENST00000376266.5_Silent_p.A548A|CCHCR1_ENST00000451521.2_Silent_p.A601A|CCHCR1_ENST00000396263.2_Silent_p.A495A NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 548 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 CCAGCTGCTGGGCCACCTTGC 0.652000 11 67 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41160275 41160275 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:41160275G>C ENST00000263413.3 - 11 1917 c.1653C>G c.(1651-1653)aaC>aaG p.N551K C6_ENST00000337836.5_Missense_Mutation_p.N551K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 551 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GTTTCTCACAGTTCTCACCAT 0.453000 4 164 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136403032 136403032 + Nonsense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:136403032G>T ENST00000264160.4 + 16 1928 c.1558G>T c.(1558-1560)Gga>Tga p.G520* R3HDM1_ENST00000409606.1_Nonsense_Mutation_p.G520*|R3HDM1_ENST00000410054.1_Nonsense_Mutation_p.G464*|R3HDM1_ENST00000409478.1_Nonsense_Mutation_p.G391*|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000329971.3_Nonsense_Mutation_p.G391* NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 520 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CCAAGTGCCTGGACCTCCACA 0.458000 20 123 7.41877e-09 9.19741e-09 1 1 0 SOX3 6658 broad.mit.edu 37 X 139586680 139586680 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:139586680G>T ENST00000370536.2 - 1 545 c.546C>A c.(544-546)gaC>gaA p.D182E NM_005634.2 NP_005625.2 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 182 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) GCTTCTCGGCGTCGGTCAGCA 0.612000 28 126 2.65835e-16 3.81288e-16 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113301606 113301606 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:113301606G>C ENST00000297405.5 - 57 9380 c.9136C>G c.(9136-9138)Cct>Gct p.P3046A CSMD3_ENST00000352409.3_Missense_Mutation_p.P2976A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3006A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2877A NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3046 Sushi 21. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAACAATGAGGTTGTGATCCA 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 89 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9307306 9307306 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:9307306G>T ENST00000261336.2 - 29 3708 c.3680C>A c.(3679-3681)cCa>cAa p.P1227Q PZP_ENST00000381997.2_Missense_Mutation_p.P1013Q NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GGTGGGGGCTGGCTGGGCCGT 0.572000 16 25 1.15088e-07 1.38316e-07 1 1 0 MGAT3 4248 broad.mit.edu 37 22 39884172 39884172 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr22:39884172C>A ENST00000341184.6 + 2 1035 c.820C>A c.(820-822)Ctg>Atg p.L274M NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 274 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) CTATGTCTTCCTGGACCACTT 0.652000 40 170 1.61004e-24 2.59322e-24 1 1 0 ZNF93 81931 broad.mit.edu 37 19 20044521 20044521 + Nonsense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:20044521G>T ENST00000343769.5 + 4 785 c.757G>T c.(757-759)Gga>Tga p.G253* AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 253 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 CATTCATACTGGAAAGAAACC 0.363000 29 41 5.45727e-16 7.77068e-16 1 1 0 HECW1 23072 broad.mit.edu 37 7 43594194 43594194 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:43594194A>T ENST00000395891.1 + 29 5119 c.4514A>T c.(4513-4515)tAc>tTc p.Y1505F HECW1_ENST00000453890.1_Missense_Mutation_p.Y1471F NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1505 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CGTGCAGGTTACCACGATGGG 0.527000 4 23 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184104390 184104390 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:184104390G>T ENST00000204604.1 + 16 2289 c.2043G>T c.(2041-2043)gtG>gtT p.V681V EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000450923.1_Silent_p.V681V|CHRD_ENST00000348986.3_Silent_p.V641V NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 681 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGCCGCCTGTGGTGCCTGGTC 0.731000 8 11 1.12685e-05 1.28363e-05 1 1 0 ZNF683 257101 broad.mit.edu 37 1 26689561 26689561 + Nonsense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:26689561T>A ENST00000436292.1 - 5 1219 c.1099A>T c.(1099-1101)Aag>Tag p.K367* ZNF683_ENST00000374204.1_Nonsense_Mutation_p.K367*|ZNF683_ENST00000403843.1_Nonsense_Mutation_p.K367*|ZNF683_ENST00000349618.3_Nonsense_Mutation_p.K367* Q8IZ20 ZN683_HUMAN zinc finger protein 683 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) AGGTGGTGCTTCTGCAGGTGG 0.582000 15 15 0 0 1 0 0 CCDC34 91057 broad.mit.edu 37 11 27379014 27379014 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:27379014C>A ENST00000317945.6 - 2 473 c.434G>T c.(433-435)tGg>tTg p.W145L CCDC34_ENST00000328697.6_Missense_Mutation_p.W145L NM_080654.2 NP_542385.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 145 endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 CCACACCTCCCATGGTGTCAG 0.423000 41 102 1.57019e-19 2.38257e-19 1 1 0 ZNF479 90827 broad.mit.edu 37 7 57188106 57188106 + Missense_Mutation SNP T T G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:57188106T>G ENST00000331162.4 - 5 1286 c.1016A>C c.(1015-1017)aAc>aCc p.N339T NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TCTAGTAAGGTTTGAGGACCA 0.448000 27 26 0 0 1 0 0 TTC22 55001 broad.mit.edu 37 1 55253386 55253386 + Missense_Mutation SNP C C A rs143886863 byFrequency TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:55253386C>A ENST00000371276.4 - 3 840 c.737G>T c.(736-738)cGa>cTa p.R246L TTC22_ENST00000371274.4_Missense_Mutation_p.R246L NM_001114108.1 NP_001107580.1 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 246 binding kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 GTCCCCACCTCGGTGGCGGGG 0.657000 3 18 2.56e-06 2.99429e-06 1 1 0 OR5D14 219436 broad.mit.edu 37 11 55563896 55563896 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:55563896C>A ENST00000335605.1 + 1 865 c.865C>A c.(865-867)Cct>Act p.P289T NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) CATGCTGAACCCTCTGATCTA 0.418000 19 72 8.34094e-07 9.87346e-07 1 1 0 PATE1 160065 broad.mit.edu 37 11 125618506 125618506 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:125618506C>A ENST00000305738.5 + 5 271 c.259C>A c.(259-261)Ccc>Acc p.P87T PATE1_ENST00000437148.2_Missense_Mutation_p.P75T NM_138294.2 NP_612151.1 Q8WXA2 PATE1_HUMAN prostate and testis expressed 1 87 extracellular region large_intestine(1)|lung(5) 6 GGATGGTAATCCCTGGTTAAC 0.463000 24 48 6.12954e-19 9.1943e-19 1 1 0 ZNF480 147657 broad.mit.edu 37 19 52819190 52819190 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:52819190G>T ENST00000595962.1 + 4 369 c.303G>T c.(301-303)agG>agT p.R101S CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000335090.6_Missense_Mutation_p.R24S|ZNF480_ENST00000334564.7_Intron NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) CAGATGGGAGGGAGTGCATCA 0.438000 10 10 1.5842e-08 1.9456e-08 1 1 0 POLA1 5422 broad.mit.edu 37 X 24750510 24750510 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:24750510C>A ENST00000379068.3 + 16 1753 c.1710C>A c.(1708-1710)gtC>gtA p.V570V POLA1_ENST00000379059.3_Silent_p.V564V|POLA1_ENST00000493342.1_3'UTR P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 564 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) CAGCTTTGGTCCATCACAGTT 0.413000 4 50 1.23904e-05 1.40329e-05 1 1 0 VWC2 375567 broad.mit.edu 37 7 49951642 49951642 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:49951642T>A ENST00000340652.3 + 4 1395 c.839T>A c.(838-840)tTt>tAt p.F280Y ZPBP_ENST00000491129.1_Intron NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 280 negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 CCAAACTGCTTTGCAGAAACC 0.388000 39 63 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155028313 155028313 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:155028313G>T ENST00000356955.2 + 7 761 c.660G>T c.(658-660)gtG>gtT p.V220V ADAM15_ENST00000447332.3_Silent_p.V204V|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Silent_p.V220V|ADAM15_ENST00000271836.6_Silent_p.V220V|ADAM15_ENST00000360674.4_Silent_p.V220V|ADAM15_ENST00000355956.2_Silent_p.V220V|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Silent_p.V220V|ADAM15_ENST00000531455.1_Silent_p.V230V|ADAM15_ENST00000359280.4_Silent_p.V220V NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 220 Peptidase M12B. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TGGTGATTGTGGCTGATCACT 0.587000 25 163 7.87624e-14 1.07852e-13 1 1 0 CEACAM20 125931 broad.mit.edu 37 19 45021253 45021253 + RNA SNP A A G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:45021253A>G ENST00000454753.1 - 0 1341 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) TCAGATGCCGACTCCCTGGTG 0.572000 6 32 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139833394 139833394 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:139833394G>T ENST00000303045.6 - 7 1676 c.1230C>A c.(1228-1230)gaC>gaA p.D410E COL22A1_ENST00000435777.1_Missense_Mutation_p.D410E NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 410 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGGGCACACTGTCGTAGAGGC 0.592000 HNSCC(7;0.00092) 17 38 6.94344e-10 8.88851e-10 1 1 0 GOLGA8EP 390535 broad.mit.edu 37 15 23441132 23441132 + RNA SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:23441132G>T ENST00000526079.1 + 0 1211 NR_027407.1|NR_033350.1 GGGTAGAGACGCTGGAGAGGA 0.567000 29 465 6.33695e-27 1.03768e-26 1 1 0 AMER2 219287 broad.mit.edu 37 13 25745118 25745118 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr13:25745118C>A ENST00000357816.2 - 2 1115 c.640G>T c.(640-642)Gcc>Tcc p.A214S AMER2_ENST00000515384.1_Missense_Mutation_p.A214S|AMER2_ENST00000381853.3_Missense_Mutation_p.A214S APC membrane recruitment protein 2 ccctccgcggccTCCGCCTTG 0.726000 10 28 9.70103e-10 1.23783e-09 1 1 0 EIF2S2 8894 broad.mit.edu 37 20 32677589 32677589 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr20:32677589C>T ENST00000374980.2 - 9 1170 c.949G>A c.(949-951)Ggc>Agc p.G317S NM_003908.3 NP_003899.2 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa 317 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 11 GCCTGGAAGCCGGTTTTGATA 0.488000 17 87 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43439838 43439838 + RNA SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:43439838C>T ENST00000406070.2 - 0 244 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) AGAAGAACATCCTTCCCCTCG 0.473000 33 186 0 0 1 0 0 RBM14 10432 broad.mit.edu 37 11 66391825 66391825 + Nonsense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:66391825C>T ENST00000310137.4 + 2 617 c.478C>T c.(478-480)Cag>Tag p.Q160* RBM14_ENST00000409738.4_Intron|RBM14_ENST00000443702.1_3'UTR|RBM14_ENST00000461478.1_3'UTR|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409372.1_3'UTR|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 160 DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CCTGGCTGTCCAGTCTGGGGA 0.592000 29 61 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151879370 151879370 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:151879370G>A ENST00000355193.2 - 36 5793 c.5575C>T c.(5575-5577)Cca>Tca p.P1859S KMT2C_ENST00000262189.6_Missense_Mutation_p.P1859S lysine (K)-specific methyltransferase 2C ATCCGGGATGGGGCTGGAGGA 0.517000 61 113 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125660635 125660635 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:125660635G>T ENST00000431078.1 + 22 3974 c.3610G>T c.(3610-3612)Gac>Tac p.D1204Y NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1204 cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CTTCATGGTGGACTCAGATGT 0.532000 7 14 1.12685e-05 1.28363e-05 1 1 0 FAM9C 171484 broad.mit.edu 37 X 13061040 13061040 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:13061040C>A ENST00000542843.1 - 4 421 c.211G>T c.(211-213)Gca>Tca p.A71S FAM9C_ENST00000333995.3_Missense_Mutation_p.A71S|FAM9C_ENST00000380625.3_Missense_Mutation_p.A71S Q8IZT9 FAM9C_HUMAN family with sequence similarity 9, member C 71 nucleus NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 AACATACCTGCAATATCTTCT 0.348000 4 50 0.00909568 0.00943167 1 1 0 CSF2RB 1439 broad.mit.edu 37 22 37322207 37322207 + Missense_Mutation SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr22:37322207C>G ENST00000262825.5 + 4 596 c.379C>G c.(379-381)Ctg>Gtg p.L127V CSF2RB_ENST00000403662.3_Missense_Mutation_p.L127V|CSF2RB_ENST00000536485.1_Missense_Mutation_p.L68V|CSF2RB_ENST00000406230.1_Missense_Mutation_p.L127V NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 127 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CACCGTCACTCTGACCCAGCA 0.617000 24 56 0 0 1 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148712329 148712329 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:148712329C>T ENST00000296721.4 + 17 2145 c.2047C>T c.(2047-2049)Cgg>Tgg p.R683W AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R683W NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 683 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGGAGCGCCGGATTGACCT 0.577000 23 26 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52567304 52567304 + Nonsense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:52567304T>A ENST00000356297.4 - 2 281 c.181A>T c.(181-183)Aga>Tga p.R61* PXDNL_ENST00000543296.1_Nonsense_Mutation_p.R61* NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 61 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCTCTTATTCTGTTAAACCTC 0.363000 23 34 0 0 1 0 0 RGS1 5996 broad.mit.edu 37 1 192545059 192545059 + Splice_Site SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:192545059T>C ENST00000367459.3 + 1 203 c.137_splice c.e1+1 p.F46_splice RGS1_ENST00000469578.2_Splice_Site_p.F46_splice NM_002922.3 NP_002913.3 Q08116 RGS1_HUMAN regulator of G-protein signaling 1 46 immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity kidney(8)|large_intestine(1)|lung(13) 22 Breast(1374;0.188) CCAAAGACTTTGTAAGTTTGT 0.368000 28 46 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35792589 35792589 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:35792589G>T ENST00000342694.2 + 1 439 c.184G>T c.(184-186)Gtg>Ttg p.V62L NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 62 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GGCACTGCCCGTGGACCTGCG 0.657000 61 48 2.14255e-21 3.30205e-21 1 1 0 TFEB 7942 broad.mit.edu 37 6 41652556 41652556 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:41652556G>T ENST00000230323.4 - 10 1513 c.1212C>A c.(1210-1212)ggC>ggA p.G404G TFEB_ENST00000420312.1_Silent_p.G319G|TFEB_ENST00000403298.4_Silent_p.G404G|TFEB_ENST00000358871.2_Silent_p.G418G|TFEB_ENST00000373033.1_Silent_p.G404G NM_001271945.1|NM_007162.2 NP_001258874.1|NP_009093.1 P19484 TFEB_HUMAN transcription factor EB 404 Pro-rich. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) CGTCCTCCCTGCCCCCAAAGC 0.687000 T ALPHA renal (childhood epithelioid) 32 43 2.61193e-14 3.62717e-14 1 1 0 KCNH5 27133 broad.mit.edu 37 14 63447766 63447766 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:63447766C>T ENST00000322893.7 - 6 1034 c.766G>A c.(766-768)Gtt>Att p.V256I KCNH5_ENST00000394964.2_Missense_Mutation_p.V198I|KCNH5_ENST00000420622.2_Missense_Mutation_p.V256I|KCNH5_ENST00000394968.1_Missense_Mutation_p.V198I NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 256 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AGAAAAATAACGTCCACCACA 0.423000 22 51 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147450011 147450011 + Silent SNP A A C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:147450011A>C ENST00000359874.3 + 3 280 c.207A>C c.(205-207)atA>atC p.I69I SPINK5_ENST00000256084.7_Silent_p.I69I|SPINK5_ENST00000398454.1_Silent_p.I69I NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 69 anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAAATGATACTGTGAGTAA 0.318000 32 25 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110059615 110059615 + Missense_Mutation SNP A A G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:110059615A>G ENST00000230124.3 + 7 858 c.734A>G c.(733-735)gAc>gGc p.D245G FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_Intron NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 245 SAC. cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GTGCATCGTGACTGGCTTTTG 0.328000 41 94 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141297 114141297 + Missense_Mutation SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:114141297T>C ENST00000371950.3 + 6 1325 c.601T>C c.(601-603)Tac>Cac p.Y201H HTR2C_ENST00000276198.1_Silent_p.I232I|HTR2C_ENST00000371951.1_Silent_p.I232I NM_001256761.1 NP_001243690.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 0 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TTATGGTGATTACGTATTGCC 0.498000 12 533 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 3 63 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17331961 17331961 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:17331961G>A ENST00000452699.1 - 3 385 c.196C>T c.(196-198)Cgt>Tgt p.R66C ATP13A2_ENST00000341676.5_Missense_Mutation_p.R66C|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R66C NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 66 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GGCTTCCAACGGAAGAGCAGC 0.607000 10 47 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115350991 115350991 + Silent SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:115350991T>A ENST00000357872.4 + 17 2617 c.2493T>A c.(2491-2493)atT>atA p.I831I AQPEP_ENST00000515454.1_3'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 831 proteolysis integral to membrane metallopeptidase activity|zinc ion binding GTTATGGCATTGCCTTGGGAA 0.308000 9 15 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179477612 179477612 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:179477612G>A ENST00000589042.1 - 265 50060 c.49836C>T c.(49834-49836)ctC>ctT p.L16612L TTN_ENST00000359218.5_Silent_p.L7672L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.L14971L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.L7739L|TTN_ENST00000342992.6_Silent_p.L14044L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.L7547L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14971 Fibronectin type-III 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAGCCCTGGGAGCAAGTGCT 0.517000 6 51 0 0 1 0 0 INSM1 3642 broad.mit.edu 37 20 20348993 20348993 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr20:20348993C>A ENST00000310227.1 + 1 229 c.82C>A c.(82-84)Cgc>Agc p.R28S NM_002196.2 NP_002187.1 Q01101 INSM1_HUMAN insulinoma-associated 1 28 Ala/Gly/Pro-rich. endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding liver(1)|lung(3)|ovary(1)|prostate(1) 6 READ - Rectum adenocarcinoma(2;0.0649) GGACGGCGACCGCGCACTGCT 0.806000 3 12 0.004672 0.00489626 1 1 0 OR4P4 81300 broad.mit.edu 37 11 55405983 55405983 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:55405983C>T ENST00000314612.2 + 1 150 c.150C>T c.(148-150)acC>acT p.T50T NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TCACGTGCACCCAGCTCATTC 0.388000 48 125 0 0 1 0 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086479 46086479 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr21:46086479T>A ENST00000360770.3 - 1 365 c.325A>T c.(325-327)Agc>Tgc p.S109C TSPEAR_ENST00000323084.4_Intron NM_181684.2 NP_859012.1 P59991 KR122_HUMAN keratin associated protein 12-2 109 23 X 5 AA approximate repeats. keratin filament central_nervous_system(1)|endometrium(1)|lung(3) 5 GGCCTGCAGCTCACAGGCACG 0.642000 38 73 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900014 151900014 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:151900014C>A ENST00000393900.3 - 3 1140 c.787G>T c.(787-789)Ggc>Tgc p.G263C MAGEA12_ENST00000393869.3_Missense_Mutation_p.G263C|MAGEA12_ENST00000357916.4_Missense_Mutation_p.G263C|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 263 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGATCACTGCCGGGGACCTGC 0.557000 39 207 8.20599e-20 1.24998e-19 1 1 0 PRKDC 5591 broad.mit.edu 37 8 48798590 48798590 + Nonsense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:48798590G>C ENST00000314191.2 - 37 4744 c.4688C>G c.(4687-4689)tCa>tGa p.S1563* PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S1563* NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1564 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GATCGTTTCTGAGAACAAGCT 0.478000 Non-homologous end-joining 69 125 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81650538 81650538 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:81650538A>T ENST00000558726.1 - 7 830 c.695T>A c.(694-696)cTa>cAa p.L232Q TMC3_ENST00000359440.5_Missense_Mutation_p.L232Q|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 232 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 CATCCCCACTAGGAAATACGC 0.453000 53 34 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1730380 1730380 + Silent SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:1730380G>C ENST00000313288.4 + 4 1357 c.1251G>C c.(1249-1251)ccG>ccC p.P417P NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 417 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) ACTTCATCCCGTTCGGAGGTG 0.622000 57 46 0 0 1 0 0 SLAMF6 114836 broad.mit.edu 37 1 160461013 160461013 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:160461013C>A ENST00000368059.3 - 3 617 c.548G>T c.(547-549)tGg>tTg p.W183L SLAMF6_ENST00000368055.1_Missense_Mutation_p.W72L|SLAMF6_ENST00000368057.3_Missense_Mutation_p.W183L NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 183 Ig-like. integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) CCTGGGGTCCCAGGAGACAGT 0.493000 52 112 2.73381e-35 4.73298e-35 1 1 0 LRRC36 55282 broad.mit.edu 37 16 67401041 67401041 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:67401041G>T ENST00000329956.6 + 8 895 c.876G>T c.(874-876)ttG>ttT p.L292F LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Missense_Mutation_p.L171F|LRRC36_ENST00000563189.1_Missense_Mutation_p.L171F|LRRC36_ENST00000290940.7_Missense_Mutation_p.L24F NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 292 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) AAAAGGAATTGATACCAAAAC 0.428000 24 90 3.08376e-08 3.74049e-08 1 1 0 NFAT5 10725 broad.mit.edu 37 16 69726412 69726412 + Missense_Mutation SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:69726412C>G ENST00000349945.1 + 14 3954 c.2402C>G c.(2401-2403)tCt>tGt p.S801C NFAT5_ENST00000393742.2_Missense_Mutation_p.S801C|NFAT5_ENST00000432919.1_Missense_Mutation_p.S895C|NFAT5_ENST00000354436.2_Missense_Mutation_p.S877C|NFAT5_ENST00000566899.1_Missense_Mutation_p.S801C|NFAT5_ENST00000567239.1_Missense_Mutation_p.S894C NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 877 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AACACGTTATCTAATcaacag 0.473000 14 23 0 0 1 0 0 MARCH3 115123 broad.mit.edu 37 5 126250704 126250704 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr5:126250704C>A ENST00000308660.5 - 3 825 c.311G>T c.(310-312)tGg>tTg p.W104L MARCH3_ENST00000502289.1_5'UTR|MARCH3_ENST00000515241.1_Missense_Mutation_p.W104L NM_178450.3 NP_848545.1 Q86UD3 MARH3_HUMAN membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase 104 endocytosis cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome ligase activity|zinc ion binding large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793) GGATGACAGCCAGTGCTCCAG 0.567000 9 42 2.17888e-05 2.46063e-05 1 1 0 AKAP1 8165 broad.mit.edu 37 17 55193488 55193488 + Silent SNP C C T rs61731972 byFrequency TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:55193488C>T ENST00000337714.3 + 7 2531 c.2298C>T c.(2296-2298)gcC>gcT p.A766A AKAP1_ENST00000572557.1_Silent_p.A766A|AKAP1_ENST00000571629.1_Silent_p.A766A|AKAP1_ENST00000539273.1_Silent_p.A766A NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 766 Tudor. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TCATCTGTGCCGCCCCTGGTG 0.647000 11 85 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41630661 41630661 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:41630661C>A ENST00000331105.2 + 8 1074 c.1002C>A c.(1000-1002)cgC>cgA p.R334R NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 334 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 TGGTGGGACGCGCGCGGCTGC 0.672000 10 31 0.000442599 0.000483171 1 1 0 PRDM10 56980 broad.mit.edu 37 11 129795005 129795005 + Silent SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:129795005C>A ENST00000358825.5 - 13 1893 c.1662G>T c.(1660-1662)cgG>cgT p.R554R PRDM10_ENST00000360871.3_Silent_p.R550R|PRDM10_ENST00000423662.2_Silent_p.R468R|PRDM10_ENST00000304538.6_Silent_p.R464R|PRDM10_ENST00000526082.1_Silent_p.R468R|PRDM10_ENST00000528746.1_Silent_p.R524R NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) AGTTCCCCTCCCGCCCATGGA 0.527000 76 157 3.25985e-27 5.36034e-27 1 1 0 NDUFB11 54539 broad.mit.edu 37 X 47002081 47002081 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:47002081G>T ENST00000377811.3 - 2 1094 c.270C>A c.(268-270)gtC>gtA p.V90V NDUFB11_ENST00000276062.8_Silent_p.V90V NM_001135998.2 NP_001129470.1 Q9NX14 NDUBB_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 90 respiratory electron transport chain|transport integral to membrane|mitochondrial respiratory chain complex I endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 CAAAGAAGAAGACAAGTCGCA 0.542000 9 93 1.12685e-05 1.28363e-05 1 1 0 COL14A1 7373 broad.mit.edu 37 8 121267516 121267516 + Silent SNP T T G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:121267516T>G ENST00000297848.3 + 23 3060 c.2790T>G c.(2788-2790)gtT>gtG p.V930V COL14A1_ENST00000247781.3_Silent_p.V835V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.V930V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 930 Fibronectin type-III 8. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCAAACATGTTGAAATGACCA 0.458000 12 163 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62293100 62293100 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:62293100G>T ENST00000371158.2 + 16 1939 c.1825G>T c.(1825-1827)Ggc>Tgc p.G609C INADL_ENST00000316485.6_Missense_Mutation_p.G609C NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 609 PDZ 4. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CTAGGTCAATGGCATGCAGCT 0.413000 74 143 7.97268e-31 1.36824e-30 1 1 0 ZP1 22917 broad.mit.edu 37 11 60637855 60637855 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:60637855T>A ENST00000278853.5 + 4 733 c.733T>A c.(733-735)Tgc>Agc p.C245S NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 245 P-type. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCACCTCCCCTGCATCGTGAG 0.547000 18 25 0 0 1 0 0 PSMA1 5682 broad.mit.edu 37 11 14535990 14535990 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:14535990C>A ENST00000530457.1 - 5 757 c.227G>T c.(226-228)aGa>aTa p.R76I PSMA1_ENST00000396394.2_Missense_Mutation_p.R101I|PSMA1_ENST00000419365.2_Missense_Mutation_p.R101I|PSMA1_ENST00000418988.2_Missense_Mutation_p.R107I|PSMA1_ENST00000555531.1_Missense_Mutation_p.R101I|PSMA1_ENST00000396393.1_Missense_Mutation_p.R101I P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 101 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 AGGCAGTGGTCTATCGAATAC 0.323000 13 17 1.37285e-15 1.94777e-15 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25488670 25488670 + RNA SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:25488670C>A ENST00000453082.2 + 0 2298 NR_003343.1 AAGCTCAGGCCCTTCCTCACA 0.622000 49 69 3.77016e-25 6.09742e-25 1 1 0 PRSS35 167681 broad.mit.edu 37 6 84234207 84234207 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:84234207G>T ENST00000536636.1 + 3 1392 c.1047G>T c.(1045-1047)ggG>ggT p.G349G PRSS35_ENST00000369700.3_Silent_p.G349G NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 349 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CCGGTTCGGGGGTCTATCTGC 0.522000 34 83 5.91797e-21 9.085e-21 1 1 0 EHD3 30845 broad.mit.edu 37 2 31483658 31483658 + Missense_Mutation SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:31483658T>A ENST00000322054.5 + 4 1070 c.785T>A c.(784-786)cTc>cAc p.L262H EHD3_ENST00000541626.1_Intron NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 262 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) TCCCACCCCCTCCTCATCCCT 0.597000 20 93 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237982409 237982409 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:237982409G>A ENST00000366574.2 + 101 14824 c.14507G>A c.(14506-14508)gGa>gAa p.G4836E RYR2_ENST00000360064.6_Missense_Mutation_p.G4842E|RYR2_ENST00000542537.1_Missense_Mutation_p.G4820E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4836 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GACCCAGCAGGAGATGAATAT 0.413000 10 77 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049585 11049585 + RNA SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr21:11049585G>T ENST00000470054.1 - 0 523 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAGGTCTCCCGGGCTGTCGCA 0.403000 17 262 2.37509e-13 3.21866e-13 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24924279 24924279 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:24924279C>A ENST00000329468.2 + 1 3739 c.3265C>A c.(3265-3267)Cct>Act p.P1089T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.P1089S(1) CGCCTACATTCCTGGTTTAGA 0.537000 42 146 4.16155e-14 5.71849e-14 1 1 0 PARK2 5071 broad.mit.edu 37 6 162206937 162206937 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:162206937G>T ENST00000366898.1 - 7 840 c.738C>A c.(736-738)agC>agA p.S246R PARK2_ENST00000366892.1_Missense_Mutation_p.S246R|PARK2_ENST00000366894.1_Missense_Mutation_p.S55R|PARK2_ENST00000338468.3_Missense_Mutation_p.S55R|PARK2_ENST00000366896.1_Missense_Mutation_p.S97R|PARK2_ENST00000366897.1_Missense_Mutation_p.S218R NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 246 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CCAGGACGGGGCTCCTGCAGA 0.483000 5 40 0.0293803 0.0301475 1 1 0 TPTE 7179 broad.mit.edu 37 21 10951407 10951407 + Missense_Mutation SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr21:10951407A>T ENST00000298232.7 - 9 618 c.251T>A c.(250-252)gTc>gAc p.V84D TPTE_ENST00000342420.5_Missense_Mutation_p.V64D|TPTE_ENST00000361285.4_Missense_Mutation_p.V102D|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 102 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATCCAGTAAGACCAGGAAAAC 0.323000 30 113 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12403044 12403044 + Nonsense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:12403044C>T ENST00000358136.3 + 42 8951 c.8821C>T c.(8821-8823)Cga>Tga p.R2941* VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R2916* NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2940 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TAGTGAATGGCGAGAAGTCCT 0.408000 18 56 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74520797 74520797 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:74520797C>T ENST00000437994.2 + 28 4060 c.3629C>T c.(3628-3630)aCg>aTg p.T1210M CD109_ENST00000287097.5_Missense_Mutation_p.T1210M|CD109_ENST00000422508.2_Missense_Mutation_p.T1133M NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 1210 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTGACCGTGACGGGGCCTAGC 0.458000 7 65 0 0 1 0 0 INS-IGF2 723961 broad.mit.edu 37 11 2182186 2182186 + Missense_Mutation SNP G G C rs121908278 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:2182186G>C ENST00000397270.1 - 2 74 c.16C>G c.(16-18)Cgc>Ggc p.R6G INS_ENST00000250971.3_Missense_Mutation_p.R6G|INS_ENST00000512523.1_Missense_Mutation_p.R6G|INS_ENST00000397262.1_Missense_Mutation_p.R6G|INS_ENST00000381330.4_Missense_Mutation_p.R6G NM_001042376.2 NP_001035835.1 Q1WM24 Q1WM24_HUMAN 6 glucose metabolic process extracellular region hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 5 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) GGCAGGAGGCGCATCCACAGG 0.672000 25 37 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248846 20248846 + Missense_Mutation SNP G G T rs143164519 byFrequency TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:20248846G>T ENST00000315957.4 + 1 446 c.365G>T c.(364-366)cGc>cTc p.R122L NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCCTATGACCGCTATGCTGCT 0.502000 82 439 5.72486e-32 9.86786e-32 1 1 0 OPRM1 4988 broad.mit.edu 37 6 154360678 154360678 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:154360678C>A ENST00000434900.2 + 3 796 c.278C>A c.(277-279)aCc>aAc p.T93N OPRM1_ENST00000419506.2_5'UTR|OPRM1_ENST00000428397.2_5'UTR|OPRM1_ENST00000360422.4_5'UTR|OPRM1_ENST00000229768.5_5'UTR|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000414028.2_5'UTR|OPRM1_ENST00000452687.2_5'UTR|OPRM1_ENST00000330432.7_5'UTR|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000435918.2_5'UTR|OPRM1_ENST00000337049.4_5'UTR|OPRM1_ENST00000524163.1_5'UTR|OPRM1_ENST00000523520.1_3'UTR NM_001145279.2 NP_001138751.1 P35372 OPRM_HUMAN opioid receptor, mu 1 0 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) GCCGTCAGTACCATGGACAGC 0.652000 OREG0005730 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OPRM1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 4 22 0.150653 0.152989 1 1 0 HLCS 3141 broad.mit.edu 37 21 38302560 38302560 + Silent SNP T T A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr21:38302560T>A ENST00000399120.1 - 6 2400 c.1170A>T c.(1168-1170)tcA>tcT p.S390S HLCS_ENST00000336648.3_Silent_p.S390S|HLCS_ENST00000482273.1_5'UTR NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 390 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CCTCCGCAGCTGACAGCAAGT 0.498000 11 65 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63173978 63173978 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:63173978C>A ENST00000279178.3 + 7 1332 c.1083C>A c.(1081-1083)aaC>aaA p.N361K SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 361 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GATTTGCAAACTTTATGGCCT 0.418000 20 103 6.33239e-15 8.88796e-15 1 1 0 LY6H 4062 broad.mit.edu 37 8 144239673 144239673 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:144239673C>T ENST00000414417.2 - 5 713 c.480G>A c.(478-480)ggG>ggA p.G160G LY6H_ENST00000342752.4_Silent_p.G160G|LY6H_ENST00000430474.2_Silent_p.G139G NM_001130478.1 NP_001123950.1 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H 139 nervous system development|organ morphogenesis anchored to membrane|plasma membrane endometrium(1)|lung(1)|stomach(2) 4 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GACATCAGGGCCCAGCCCAGA 0.716000 12 35 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10790603 10790603 + Splice_Site SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:10790603G>T ENST00000449870.1 + 8 1176 c.859_splice c.e8+1 p.D287_splice ILF3_ENST00000592763.1_Splice_Site_p.D287_splice|ILF3_ENST00000420083.1_Splice_Site_p.D287_splice|ILF3_ENST00000590261.1_Splice_Site_p.D287_splice|ILF3_ENST00000588657.1_Splice_Site_p.D287_splice|ILF3_ENST00000250241.8_Splice_Site_p.D287_splice|ILF3_ENST00000318511.3_Splice_Site_p.D287_splice|ILF3_ENST00000407004.3_Splice_Site_p.D287_splice|ILF3_ENST00000589998.1_Splice_Site_p.D287_splice NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 287 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CGTGATGCCAGGTTGGGGCCT 0.637000 9 30 0.00448238 0.00474818 1 1 0 WDR19 57728 broad.mit.edu 37 4 39217613 39217613 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:39217613G>A ENST00000399820.3 + 11 1268 c.1114G>A c.(1114-1116)Gta>Ata p.V372I WDR19_ENST00000506503.1_Missense_Mutation_p.V372I|WDR19_ENST00000288634.7_Missense_Mutation_p.V212I NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 372 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TGAAGTCACCGTAGCCAACCC 0.388000 8 9 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36596315 36596315 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:36596315G>A ENST00000299440.5 + 2 1573 c.1461G>A c.(1459-1461)atG>atA p.M487I NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 487 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) ACCACAAGATGTACAGGACTG 0.537000 Familial Hemophagocytic Lymphohistiocytosis 5 115 0 0 1 0 0 ZNF34 80778 broad.mit.edu 37 8 145999821 145999821 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:145999821G>A ENST00000429371.2 - 6 603 c.450C>T c.(448-450)aaC>aaT p.N150N ZNF34_ENST00000343459.4_Silent_p.N171N NM_030580.3 NP_085057.3 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) TGCTCTCCCCGTTGGTCAGTG 0.532000 6 35 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2812916 2812916 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:2812916G>C ENST00000301740.8 + 11 2936 c.2387G>C c.(2386-2388)cGc>cCc p.R796P NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 796 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CCACCCAGGCGCAGTCGCTCT 0.522000 83 372 0 0 1 0 0 BEST1 7439 broad.mit.edu 37 11 61722625 61722625 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:61722625C>A ENST00000449131.2 + 2 105 c.19C>A c.(19-21)Ctg>Atg p.L7M BEST1_ENST00000378043.4_Missense_Mutation_p.L67M|BEST1_ENST00000301774.9_5'UTR|BEST1_ENST00000435278.2_Missense_Mutation_p.L67M|BEST1_ENST00000378042.3_Missense_Mutation_p.L7M|BEST1_ENST00000534553.1_5'UTR NM_001139443.1 NP_001132915.1 O76090 BEST1_HUMAN bestrophin 1 67 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 GAAACTGACTCTGTATTGCGA 0.602000 39 70 7.63091e-17 1.11072e-16 1 1 0 POU2F2 5452 broad.mit.edu 37 19 42599696 42599696 + Splice_Site SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:42599696C>A ENST00000389341.5 - 10 973 c.e10+1 POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000560558.1_Splice_Site|POU2F2_ENST00000560398.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GGGGGCCTCACCGCTAGAAAA 0.657000 12 26 5.50884e-06 6.38635e-06 1 1 0 OR10J1 26476 broad.mit.edu 37 1 159410159 159410159 + Missense_Mutation SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:159410159T>C ENST00000423932.3 + 1 648 c.611T>C c.(610-612)gTc>gCc p.V204A RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 204 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) GACACCACTGTCAATGAAATC 0.443000 6 250 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248569679 248569679 + Silent SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:248569679G>C ENST00000366474.1 + 1 384 c.384G>C c.(382-384)gtG>gtC p.V128V NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCACTATTGTGCCTAAGATGC 0.448000 8 223 0 0 1 0 0 HS3ST3A1 9955 broad.mit.edu 37 17 13400014 13400014 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:13400014C>A ENST00000284110.1 - 2 1518 c.721G>T c.(721-723)Gtg>Ttg p.V241L HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.V39L NM_006042.1 NP_006033.1 Q9Y663 HS3SA_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 241 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCCCGCACCACCACGATGAGC 0.632000 32 27 1.07121e-22 1.6907e-22 1 1 0 EYS 346007 broad.mit.edu 37 6 66054070 66054070 + Splice_Site SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:66054070C>A ENST00000503581.1 - 10 1997 c.1459_splice c.e10-1 p.G487_splice EYS_ENST00000370616.2_Splice_Site_p.G487_splice|EYS_ENST00000393380.2_Splice_Site_p.G487_splice|EYS_ENST00000370618.3_Splice_Site_p.G487_splice|EYS_ENST00000370621.3_Splice_Site_p.G487_splice|EYS_ENST00000342421.5_Splice_Site_p.G487_splice NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 487 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 GCCTTCAGATCCTTTAAAAAA 0.323000 8 40 0.00307968 0.00327998 1 1 0 SLC18A1 6570 broad.mit.edu 37 8 20036983 20036983 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr8:20036983G>A ENST00000440926.1 - 4 607 c.137C>T c.(136-138)cCc>cTc p.P46L SLC18A1_ENST00000437980.1_Missense_Mutation_p.P46L|SLC18A1_ENST00000276373.5_Missense_Mutation_p.P46L|SLC18A1_ENST00000381608.4_Missense_Mutation_p.P46L|SLC18A1_ENST00000265808.7_Missense_Mutation_p.P46L|SLC18A1_ENST00000519026.1_Missense_Mutation_p.P46L NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 46 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) TAGGAAGGTGGGCACAATTGG 0.512000 38 65 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76062965 76062965 + Splice_Site SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:76062965G>C ENST00000416245.1 + 3 1278 c.e3+1 ZP3_ENST00000336517.4_Splice_Site|ZP3_ENST00000394857.3_Splice_Site P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 ACTTCCATGGGTGAGCACTGG 0.562000 26 113 0 0 1 0 0 PPP3CA 5530 broad.mit.edu 37 4 101947159 101947159 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:101947159C>A ENST00000394854.3 - 14 2112 c.1429G>T c.(1429-1431)Gac>Tac p.D477Y PPP3CA_ENST00000523694.2_Missense_Mutation_p.D410Y|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D467Y|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D425Y|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D245Y|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D379Y NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 477 Inhibitory domain. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) TTAATTCGGTCTAAGCCCTTG 0.453000 27 71 3.65163e-15 5.16219e-15 1 1 0 C14orf182 283551 broad.mit.edu 37 14 50472328 50472328 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:50472328G>A ENST00000399206.1 - 1 1910 c.190C>T c.(190-192)Ccc>Tcc p.P64S C14orf182_ENST00000529902.1_5'UTR NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 64 large_intestine(2)|urinary_tract(1) 3 GGCACAGAGGGATGGGCCCCG 0.517000 55 54 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18273778 18273778 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr22:18273778C>A ENST00000441493.2 - 31 6162 c.5810G>T c.(5809-5811)cGc>cTc p.R1937L XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1937 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CACTGCCATGCGTTCCCGGAG 0.637000 18 42 3.32936e-07 3.96496e-07 1 1 0 MYO16 23026 broad.mit.edu 37 13 109779780 109779780 + Silent SNP C C T rs148448924 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr13:109779780C>T ENST00000356711.2 + 31 3993 c.3867C>T c.(3865-3867)ctC>ctT p.L1289L MYO16_ENST00000357550.2_Silent_p.L1289L|MYO16_ENST00000457511.2_Silent_p.L801L NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1289 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GCAGCAGCCTCCCGTCTCCAC 0.662000 26 20 0 0 1 0 0 IGKV3-20 28912 broad.mit.edu 37 2 89442299 89442299 + RNA SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr2:89442299C>A ENST00000492167.1 - 0 157 GCTCTTTCCCCTGGAGACAAA 0.517000 25 132 6.12954e-19 9.1943e-19 1 1 0 LMOD1 25802 broad.mit.edu 37 1 201869835 201869835 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:201869835C>A ENST00000367288.4 - 2 552 c.306G>T c.(304-306)gaG>gaT p.E102D NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 102 E -> Q (in Ref. 1; CAA38101). muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TGCCCCTTTCCTCTCCATTCT 0.478000 22 110 1.40151e-16 2.01756e-16 1 1 0 MZT1 440145 broad.mit.edu 37 13 73293113 73293113 + Missense_Mutation SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr13:73293113G>A ENST00000377818.3 - 2 286 c.202C>T c.(202-204)Cgc>Tgc p.R68C NM_001071775.2 NP_001065243.1 Q08AG7 MZT1_HUMAN mitotic spindle organizing protein 1 68 gamma-tubulin complex localization centrosome|gamma-tubulin ring complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 GTAGCCTTGCGAAGCTCCTTA 0.348000 19 61 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:25398284C>G ENST00000311936.3 - 2 226 c.35G>C c.(34-36)gGt>gCt p.G12A KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 9 0 0 1 0 0 MS4A15 219995 broad.mit.edu 37 11 60531339 60531339 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:60531339C>A ENST00000405633.3 + 2 212 c.133C>A c.(133-135)Cca>Aca p.P45T MS4A15_ENST00000528170.1_Missense_Mutation_p.P45T|MS4A15_ENST00000337911.4_Intron NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 45 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 GTTTGAGGAGCCACCGCTGGG 0.597000 54 100 5.82388e-19 8.80302e-19 1 1 0 SLC8A2 6543 broad.mit.edu 37 19 47960197 47960197 + Missense_Mutation SNP A A G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:47960197A>G ENST00000236877.6 - 3 1725 c.1330T>C c.(1330-1332)Tac>Cac p.Y444H SLC8A2_ENST00000542837.1_Missense_Mutation_p.Y200H|SLC8A2_ENST00000539381.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 444 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CTGTACTCGTAGTCGGAGCCC 0.716000 15 19 0 0 1 0 0 SLC18A2 6571 broad.mit.edu 37 10 119026307 119026307 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr10:119026307C>A ENST00000298472.5 + 11 1198 c.1055C>A c.(1054-1056)gCa>gAa p.A352E SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 352 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) GGGATACTTGCACACAAAATG 0.358000 69 49 2.59843e-28 4.36403e-28 1 1 0 XIST 7503 broad.mit.edu 37 X 73071790 73071790 + RNA SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:73071790G>A ENST00000429829.1 - 0 798 NR_001564.2 TCCAGAGAGTGCAACAACCCA 0.443000 17 63 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80746075 80746075 + Splice_Site SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:80746075G>C ENST00000458043.2 + 44 5245 c.5238_splice c.e44-1 p.V1747_splice OTOGL_ENST00000547103.1_Splice_Site_p.V1735_splice NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTTTCTCTAGGTTTCACCGGA 0.348000 14 9 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51165356 51165356 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr19:51165356G>T ENST00000293441.1 - 23 6370 c.6352C>A c.(6352-6354)Cag>Aag p.Q2118K SHANK1_ENST00000391814.1_Missense_Mutation_p.Q2126K|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.Q2109K|SHANK1_ENST00000391813.1_Missense_Mutation_p.Q1505K NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2118 SAM. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCCAGGAACTGGGCTCGGTGC 0.622000 12 54 6.72482e-11 8.7223e-11 1 1 0 SPG11 80208 broad.mit.edu 37 15 44859692 44859692 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:44859692G>A ENST00000261866.7 - 36 6700 c.6684C>T c.(6682-6684)tgC>tgT p.C2228C SPG11_ENST00000427534.2_Silent_p.C2228C|SPG11_ENST00000535302.2_Silent_p.C2115C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2228 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CAATCTCCCGGCACATGCTGA 0.542000 4 74 0 0 1 0 0 MRC1 4360 broad.mit.edu 37 10 18122662 18122662 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr10:18122662G>T ENST00000239761.3 + 4 775 c.672G>T c.(670-672)ccG>ccT p.P224P NM_002438.2 NP_002429.1 P22897 MRC1_HUMAN mannose receptor, C type 1 224 receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 6 ATAAAGACCCGCTGACCAGCG 0.438000 49 17 2.165e-29 3.68331e-29 1 1 0 OR10A2 341276 broad.mit.edu 37 11 6891465 6891465 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:6891465G>T ENST00000307322.4 + 1 542 c.480G>T c.(478-480)aaG>aaT p.K160N NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCACCAACAAGGTGAACCACT 0.547000 57 135 8.44121e-28 1.41166e-27 1 1 0 TSHZ1 10194 broad.mit.edu 37 18 72999671 72999671 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr18:72999671C>T ENST00000322038.5 + 2 2758 c.2174C>T c.(2173-2175)cCg>cTg p.P725L TSHZ1_ENST00000580243.1_Missense_Mutation_p.P770L NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 770 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) TCGCTGGACCCGCTGGCGATG 0.597000 5 42 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305084 61305084 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr18:61305084C>A ENST00000341074.5 - 8 1157 c.1042G>T c.(1042-1044)Gct>Tct p.A348S SERPINB4_ENST00000356424.6_Missense_Mutation_p.A296S NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 p.A348T(1)|p.A348S(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 ACTACTACAGCGGTGGCAGCT 0.468000 49 71 1.51926e-22 2.38827e-22 1 1 0 ERMARD 55780 broad.mit.edu 37 6 170156509 170156509 + Missense_Mutation SNP T T C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:170156509T>C ENST00000588451.1 + 4 526 c.13T>C c.(13-15)Tcg>Ccg p.S5P C6orf70_ENST00000418781.3_Missense_Mutation_p.S131P|C6orf70_ENST00000366772.2_Missense_Mutation_p.S131P|C6orf70_ENST00000366773.3_Missense_Mutation_p.S131P|C6orf70_ENST00000392095.4_Missense_Mutation_p.S5P Q5T6L9 CF070_HUMAN 131 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) GAAACTGACATCGTGTCTAGA 0.338000 10 89 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55139760 55139760 + Missense_Mutation SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr4:55139760C>T ENST00000257290.5 + 10 1752 c.1421C>T c.(1420-1422)aCg>aTg p.T474M FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 474 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AACATCATCACGGAGATCCAC 0.493000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 29 28 0 0 1 0 0 TAF9B 51616 broad.mit.edu 37 X 77387265 77387265 + Missense_Mutation SNP C C G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:77387265C>G ENST00000341864.5 - 7 692 c.598G>C c.(598-600)Gca>Cca p.A200P NM_015975.4 NP_057059.2 Q9HBM6 TAF9B_HUMAN TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 200 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 14 GCAGTTGTTGCAGGAACTGTA 0.373000 22 101 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29356934 29356934 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:29356934G>C ENST00000343067.4 + 8 1274 c.1147G>C c.(1147-1149)Gac>Cac p.D383H EPB41_ENST00000347529.3_Missense_Mutation_p.D348H|EPB41_ENST00000398863.2_Missense_Mutation_p.D383H|EPB41_ENST00000373800.3_Missense_Mutation_p.D174H|EPB41_ENST00000356093.2_Missense_Mutation_p.D383H|EPB41_ENST00000349460.4_Missense_Mutation_p.D174H|EPB41_ENST00000373797.1_Missense_Mutation_p.D383H|EPB41_ENST00000373798.1_Missense_Mutation_p.D383H NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 383 FERM. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AGCTCAGGCTGACTTGGAGTT 0.323000 30 57 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146818108 146818108 + Silent SNP A A T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:146818108A>T ENST00000361727.3 + 6 1308 c.792A>T c.(790-792)tcA>tcT p.S264S NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 264 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCCACACATCAGTGATGACAG 0.517000 HNSCC(39;0.1) 37 51 0 0 1 0 0 HAUS7 55559 broad.mit.edu 37 X 152721053 152721053 + Missense_Mutation SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chrX:152721053G>T ENST00000370219.3 - 8 1464 c.907C>A c.(907-909)Ccg>Acg p.P303T HAUS7_ENST00000370212.3_Missense_Mutation_p.P303T|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.P293T|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000421080.2_Silent_p.T124T|TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000338525.2_5'UTR NM_017518.6 NP_059988.3 Q99871 HAUS7_HUMAN HAUS augmin-like complex, subunit 7 303 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3) 19 GGGCCGCACGGGTGGAGGTCA 0.617000 18 59 6.49762e-13 8.68559e-13 1 1 0 OR13G1 441933 broad.mit.edu 37 1 247836244 247836244 + Frame_Shift_Del DEL C C - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr1:247836244delC ENST00000359688.2 - 1 121 c.100delG c.(100-102)tgfs p.V34fs RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGAAAAGCCACAAGATAGACA 0.423 32 80 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 6 --- --- --- --- WRNIP1 56897 broad.mit.edu 37 6 2765952 2765952 + Frame_Shift_Del DEL C C - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:2765952delC ENST00000380773.4 + 1 305 c.96delC c.(94-96)atfs p.I32fs WRNIP1_ENST00000380771.4_Frame_Shift_Del_p.I32fs NM_020135.2 NP_064520.2 Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 32 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) CCGCGCACATCAACTCGCACC 0.741 11 20 --- --- --- --- GPR116 221395 broad.mit.edu 37 6 46826017 46826017 + Frame_Shift_Del DEL T T - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:46826017delT ENST00000283296.7 - 17 3911 c.3623delA c.(3622-3624)agfs p.K1208fs GPR116_ENST00000456426.2_Frame_Shift_Del_p.K1066fs|GPR116_ENST00000545669.1_Frame_Shift_Del_p.K637fs|GPR116_ENST00000265417.7_Frame_Shift_Del_p.K1208fs|GPR116_ENST00000362015.4_Frame_Shift_Del_p.K1208fs NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1208 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CTTCTCCTGCTTGCATGGCTT 0.517 63 126 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87968496 87968497 + Frame_Shift_Ins INS - - C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:87968496_87968497insC ENST00000369577.3 + 8 5192_5193 c.5149_5150insC c.(5149-5151)cccfs p.P1717fs ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.P1712fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1717 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TACAGTGTTAGCCCCTTTAACA 0.312 14 25 --- --- --- --- BCLAF1 9774 broad.mit.edu 37 6 136582444 136582444 + Frame_Shift_Del DEL C C - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr6:136582444delC ENST00000531224.1 - 12 2968 c.2716delG c.(2716-2718)aafs p.E906fs BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.E904fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.E733fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.E857fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.E855fs|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_Frame_Shift_Del_p.E124fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.E855fs NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 906 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCATTATTTTCCATGGTCTCT 0.378 30 194 --- --- --- --- ZC3HAV1 56829 broad.mit.edu 37 7 138763341 138763342 + Frame_Shift_Del DEL CT CT - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:138763341_138763342delCT ENST00000242351.5 - 5 1845_1846 c.1529_1530delAG c.(1528-1530)gfs p.E511fs ZC3HAV1_ENST00000464606.1_Frame_Shift_Del_p.E633fs|ZC3HAV1_ENST00000471652.1_Frame_Shift_Del_p.E511fs NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 511 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 GACAAATTTCCTCTGAGTCATG 0.381 22 46 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 3 6 --- --- --- --- FBP1 2203 broad.mit.edu 37 9 97369234 97369234 + Splice_Site DEL C C - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr9:97369234delC ENST00000415431.1 - 6 797 c.567_splice c.e6-1 p.A190_splice FBP1_ENST00000375326.4_Splice_Site_p.A190_splice NM_001127628.1 NP_001121100.1 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 190 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding kidney(1)|liver(1)|lung(1) 3 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) TCCCCGATGGCCTTTTTAGAC 0.547 14 83 --- --- --- --- LRRC32 2615 broad.mit.edu 37 11 76371843 76371843 + Frame_Shift_Del DEL G G - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:76371843delG ENST00000407242.2 - 3 1036 c.794delC c.(793-795)cgfs p.P265fs LRRC32_ENST00000404995.1_Frame_Shift_Del_p.P265fs|LRRC32_ENST00000260061.5_Frame_Shift_Del_p.P265fs|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 265 integral to plasma membrane p.P265Q(1) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GATGAGTCTCGGGAGCGCGGC 0.632 49 118 --- --- --- --- MAML2 84441 broad.mit.edu 37 11 95712320 95712320 + Frame_Shift_Del DEL G G - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:95712320delG ENST00000524717.1 - 5 4547 c.3263delC c.(3262-3264)ctfs p.P1088fs NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 1088 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GTTGGGTGAAGGAAAATTGCT 0.493 T """MECT1, CRTC3""" salivary gland mucoepidermoid 18 107 --- --- --- --- C1QTNF5 114902 broad.mit.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr11:119210189_119210190insC ENST00000445041.2 - 15 3378_3379 c.583_584insG c.(583-585)catfs p.H195fs C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 147 CUB 1. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CCTCACCATGGCCCCCCCCGAG 0.589 7 133 --- --- --- --- RPL41 6171 broad.mit.edu 37 12 56511295 56511296 + Frame_Shift_Del DEL AG AG - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:56511295_56511296delAG ENST00000546591.1 + 3 267_268 c.65_66delAG c.(64-66)cfs p.Q22fs RPL41_ENST00000552314.1_3'UTR|RPL41_ENST00000501597.3_Frame_Shift_Del_p.Q22fs NM_001035267.1 NP_001030344.1 P62945 RL41_HUMAN ribosomal protein L41 22 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome OV - Ovarian serous cystadenocarcinoma(18;0.12) AAGATGAGGCAGAGGTCCAAGT 0.505 2 4 --- --- --- --- GPR133 283383 broad.mit.edu 37 12 131456063 131456063 + Frame_Shift_Del DEL T T - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr12:131456063delT ENST00000261654.5 + 4 807 c.248delT c.(247-249)ctfs p.L84fs GPR133_ENST00000535015.1_Frame_Shift_Del_p.L116fs NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 84 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GGAGTCACGCTTCTCTATTAC 0.458 26 21 --- --- --- --- PIBF1 10464 broad.mit.edu 37 13 73372039 73372053 + Splice_Site DEL TTCAAGGTTCGCTTC TTCAAGGTTCGCTTC - rs142370535 TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr13:73372039_73372053delTTCAAGGTTCGCTTC ENST00000326291.6 + 5 890_899 c.552_splice c.e5-1 p.184_splice NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 184 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) TTTAATTTTTTTCAAGGTTCGCTTCTATGAGCTAG 0.274 10 52 --- --- --- --- ARHGAP5 394 broad.mit.edu 37 14 32562696 32562696 + Frame_Shift_Del DEL A A - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr14:32562696delA ENST00000345122.3 + 2 3136 c.2821delA c.(2821-2823)aafs p.K942fs ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 942 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding p.N943fs*2(1) NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TGTTCTAGAGAAAAAAAATAT 0.343 8 85 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25453213 25453213 + RNA DEL G G - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr15:25453213delG ENST00000424208.1 + 0 2384 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 ATGCATGGGAGGGGGTTGCCC 0.542 110 159 --- --- --- --- HAGHL 84264 broad.mit.edu 37 16 778954 778955 + Frame_Shift_Ins INS - - G TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:778954_778955insG ENST00000341413.4 + 7 940_941 c.659_660insG c.(658-660)gggfs p.G220fs HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000561546.1_Intron|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000564545.1_3'UTR Q6PII5 HAGHL_HUMAN hydroxyacylglutathione hydrolase-like 220 hydrolase activity|metal ion binding lung(3) 3 Hepatocellular(780;0.00335) GGCTTCGGGGTGGGGGGGGCTC 0.668 9 7 --- --- --- --- NLRC5 84166 broad.mit.edu 37 16 57059536 57059536 + Frame_Shift_Del DEL G G - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:57059536delG ENST00000436936.1 + 6 906 c.681delG c.(679-681)ttfs p.L227fs NLRC5_ENST00000539144.1_Frame_Shift_Del_p.L227fs|NLRC5_ENST00000262510.6_Frame_Shift_Del_p.L227fs|NLRC5_ENST00000308149.7_Frame_Shift_Del_p.L227fs Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 227 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CCGTGCTTTTGGGGAAGGCTG 0.582 51 209 --- --- --- --- CMTR2 55783 broad.mit.edu 37 16 71318293 71318293 + Frame_Shift_Del DEL A A - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:71318293delA ENST00000338099.5 - 3 1867 c.1531delT c.(1531-1533)gcfs p.C511fs FTSJD1_ENST00000434935.2_Frame_Shift_Del_p.C511fs Q8IYT2 FTSJ1_HUMAN 511 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCACCATTGCAAAAAGGAGAA 0.353 12 26 --- --- --- --- MLKL 197259 broad.mit.edu 37 16 74709616 74709616 + Frame_Shift_Del DEL C C - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr16:74709616delC ENST00000308807.7 - 8 1548 c.1085delG c.(1084-1086)gafs p.G362fs MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 362 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TCTCGTAGTTCCCAAACTCAT 0.388 20 47 --- --- --- --- MIEN1 84299 broad.mit.edu 37 17 37885932 37885935 + Frame_Shift_Del DEL ACTC ACTC - TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:37885932_37885935delACTC ENST00000577810.1 - 3 281_284 c.267_270delGAGT c.(265-270)gtfs p.VS89fs ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000474210.1_Intron|MIEN1_ENST00000394231.3_Intron NM_032339.3 NP_115715.3 Q9BRT3 CQ037_HUMAN migration and invasion enhancer 1 89 cell redox homeostasis cytosol|membrane selenium binding CGCTGTAAATACTCACATCTTTCT 0.485 23 234 --- --- --- --- TRIM47 91107 broad.mit.edu 37 17 73872068 73872069 + Frame_Shift_Ins INS - - T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43ad090d-2803-4ba4-91bc-b9955910331b eaab87cf-7618-4ba5-8734-c370651c4dad g.chr17:73872068_73872069insT ENST00000254816.2 - 4 1140_1141 c.1114_1115insA c.(1114-1116)gctfs p.A372fs TRIM47_ENST00000587339.1_Frame_Shift_Ins_p.A134fs NM_033452.2 NP_258411.2 Q96LD4 TRI47_HUMAN tripartite motif containing 47 372 cytoplasm|nucleus zinc ion binding autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CACGGCCAGCATGTCTCTCACT 0.663 44 88 --- --- --- ---