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 CFTR 1080 broad.mit.edu 37 7 117292972 117292972 + Missense_Mutation SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:117292972A>C ENST00000003084.6 + 24 4082 c.3950A>C c.(3949-3951)aAa>aCa p.K1317T CFTR_ENST00000454343.1_Missense_Mutation_p.K1256T NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1317 ABC transporter 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAAATATGGAAAGTTGCAGAT 0.338000 Cystic Fibrosis 8 32 0 0 0.307466 0 0 PCLO 27445 broad.mit.edu 37 7 82585177 82585177 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:82585177C>T ENST00000423517.2 - 5 5429 c.5092G>A c.(5092-5094)Gaa>Aaa p.E1698K PCLO_ENST00000333891.8_Missense_Mutation_p.E1698K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1629 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATTTCCAATTCTGGCTCTTCG 0.433000 8 26 0 0 0.278610 0 0 C16orf11 146325 broad.mit.edu 37 16 614994 614994 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:614994C>G ENST00000409413.3 + 3 1682 c.1403C>G c.(1402-1404)tCt>tGt p.S468C NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 468 central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 CTCGACCTCTCTGTGAAACGT 0.726000 3 13 0 0 0.115264 0 0 HIPK3 10114 broad.mit.edu 37 11 33308310 33308310 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:33308310A>G ENST00000303296.4 + 2 655 c.350A>G c.(349-351)cAt>cGt p.H117R HIPK3_ENST00000379016.3_Missense_Mutation_p.H117R|HIPK3_ENST00000456517.1_Missense_Mutation_p.H117R|HIPK3_ENST00000525975.1_Missense_Mutation_p.H117R NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 117 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 AACAGATTGCATTTCCTAGAA 0.498000 11 39 0 0 0.361761 0 0 FOCAD 54914 broad.mit.edu 37 9 20981679 20981679 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:20981679G>C ENST00000380249.1 + 40 4996 c.4632G>C c.(4630-4632)aaG>aaC p.K1544N FOCAD_ENST00000338382.6_Missense_Mutation_p.K1544N|FOCAD_ENST00000605086.1_Missense_Mutation_p.K980N NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1544 integral to membrane binding TGCCAAATAAGATTCGGGTGA 0.448000 5 48 0 0 0.217242 0 0 ARL13A 392509 broad.mit.edu 37 X 100240775 100240775 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:100240775A>T ENST00000450049.2 + 4 363 c.250A>T c.(250-252)Aac>Tac p.N84Y NM_001162491.1 NP_001155963.1 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13A 84 GTP binding endometrium(1)|ovary(1) 2 AGCATGGCCAAACTACTATGC 0.468000 15 23 0 0 0.457914 0 0 PEX11G 92960 broad.mit.edu 37 19 7550795 7550795 + Missense_Mutation SNP T T A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:7550795T>A ENST00000221480.1 - 2 186 c.178A>T c.(178-180)Agg>Tgg p.R60W PEX11G_ENST00000593942.1_5'UTR NM_080662.2 NP_542393.1 Q96HA9 PX11C_HUMAN peroxisomal biogenesis factor 11 gamma 60 integral to membrane|peroxisomal membrane central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 7 AAGATGGTCCTGCAGTGGCTG 0.567000 17 42 0 0 0.500413 0 0 TAOK2 9344 broad.mit.edu 37 16 30002109 30002109 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:30002109G>A ENST00000279394.3 + 18 2853 c.2450G>A c.(2449-2451)cGg>cAg p.R817Q NM_004783.3 NP_004774.1 Q9UL54 TAOK2_HUMAN TAO kinase 2 696 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCCCAGCTGCGGCTTGATGAG 0.592000 18 48 0 0 0.592651 0 0 WDR66 144406 broad.mit.edu 37 12 122369654 122369654 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr12:122369654C>T ENST00000288912.4 + 4 1604 c.750C>T c.(748-750)acC>acT p.T250T WDR66_ENST00000397454.2_Silent_p.T250T NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 250 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TCTTCCAGACCATGACCTGGT 0.502000 3 25 0 0 0.115264 0 0 NAT8L 339983 broad.mit.edu 37 4 2065645 2065645 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:2065645G>A ENST00000423729.2 + 3 700 c.700G>A c.(700-702)Gag>Aag p.E234K NAT8L_ENST00000331662.3_Missense_Mutation_p.E66K NM_178557.3 NP_848652.2 Q8N9F0 NAT8L_HUMAN N-acetyltransferase 8-like (GCN5-related, putative) 234 N-acetyltransferase. integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane aspartate N-acetyltransferase activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0315) GAAGGTGCTGGAGTTCGCCGT 0.652000 6 24 0 0 0.217242 0 0 MIR891B 100126304 broad.mit.edu 37 X 145082599 145082599 + RNA SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:145082599C>T ENST00000401245.1 - 0 50 NR_030590.1 aaacatgtgCCATTGAATGTT 0.378000 13 60 0 0 0.435327 0 0 FGF1 2246 broad.mit.edu 37 5 141974914 141974914 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:141974914G>A ENST00000359370.6 - 4 488 c.409C>T c.(409-411)Cgg>Tgg p.R137W FGF1_ENST00000337706.2_Missense_Mutation_p.R137W|FGF1_ENST00000378046.1_Missense_Mutation_p.R137W|FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000407758.1_3'UTR|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000494579.1_5'UTR|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000419524.2_Missense_Mutation_p.R137W NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2 NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) 137 Heparin-binding. angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding large_intestine(1)|lung(2) 3 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) TAGTGAGTCCGAGGACCGCGT 0.478000 15 41 0 0 0.457914 0 0 BMP10 27302 broad.mit.edu 37 2 69093551 69093551 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:69093551G>T ENST00000295379.1 - 2 645 c.487C>A c.(487-489)Cgg>Agg p.R163R NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 163 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GTAATTTTCCGGTCTACTCCA 0.448000 3 33 0.115264 0.116742 0.115264 1 0 IGHD 3495 broad.mit.edu 37 14 106304821 106304821 + RNA SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr14:106304821T>G ENST00000390556.2 - 0 1125 tagtatttcttattgcatttt 0.423000 3 6 0 0 0.115264 0 0 SERINC1 57515 broad.mit.edu 37 6 122777667 122777667 + Silent SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:122777667T>C ENST00000368454.1 - 5 659 c.330A>G c.(328-330)aaA>aaG p.K110K SERINC1_ENST00000339697.3_Silent_p.K110K Q9NRX5 SERC1_HUMAN serine incorporator 1 110 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) TACTCTTCACTTTGATCATTA 0.378000 11 38 0 0 0.411799 0 0 KCNF1 3754 broad.mit.edu 37 2 11053801 11053801 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:11053801C>T ENST00000295082.1 + 1 1739 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 417 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CAACAAGCAGCGCGTCCTGGA 0.617000 6 20 0 0 0.217242 0 0 ADRA1A 148 broad.mit.edu 37 8 26627932 26627932 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr8:26627932C>T ENST00000380573.3 - 3 2158 c.1135G>A c.(1135-1137)Gtg>Atg p.V379M ADRA1A_ENST00000380586.1_Missense_Mutation_p.V379M|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V379M|ADRA1A_ENST00000519229.1_Missense_Mutation_p.V379M P35348 ADA1A_HUMAN adrenoceptor alpha 1A 379 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CTTGATCCCACGGGGATGCGC 0.552000 23 78 0 0 0.624587 0 0 MYCBP2 23077 broad.mit.edu 37 13 77625998 77625998 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr13:77625998T>C ENST00000407578.2 - 81 13969 c.13703A>G c.(13702-13704)tAt>tGt p.Y4568C MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y4530C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y4530C NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCTGGGATCATAATCATCTCC 0.428000 7 22 0 0 0.361761 0 0 FAT1 2195 broad.mit.edu 37 4 187524850 187524850 + Nonsense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:187524850G>C ENST00000441802.2 - 19 11039 c.10830C>G c.(10828-10830)taC>taG p.Y3610* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3610 Cadherin 33. 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 CATTGAGAAGGTATTGCCCTA 0.498000 HNSCC(5;0.00058) 6 20 0 0 0.217242 0 0 COL27A1 85301 broad.mit.edu 37 9 116930511 116930511 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:116930511C>T ENST00000356083.3 + 3 1067 c.676C>T c.(676-678)Cac>Tac p.H226Y NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 226 Laminin G-like. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCAGGTCGCTCACAATTACTG 0.557000 24 64 0 0 0.681144 0 0 WDR18 57418 broad.mit.edu 37 19 985937 985937 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:985937G>A ENST00000251289.5 + 2 306 c.283G>A c.(283-285)Gtc>Atc p.V95I WDR18_ENST00000587001.2_Missense_Mutation_p.V95I|WDR18_ENST00000591997.1_3'UTR NM_024100.3 NP_077005.2 Q9BV38 WDR18_HUMAN WD repeat domain 18 95 p.V95I(1) endometrium(1)|kidney(2)|lung(2)|skin(2) 7 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCTCTACGTCCTGGCAGG 0.572000 4 37 0 0 0.184627 0 0 OR4N5 390437 broad.mit.edu 37 14 20612330 20612330 + Silent SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr14:20612330T>C ENST00000333629.1 + 1 436 c.436T>C c.(436-438)Ttg>Ctg p.L146L NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGCATTATCGTTGGTTCTGTG 0.498000 12 117 0 0 0.435327 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558908 140558908 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:140558908G>C ENST00000239444.2 + 1 1538 c.1293G>C c.(1291-1293)agG>agC p.R431S NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 431 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACACCCAGGCTGACAACAC 0.532000 19 69 0 0 0.539581 0 0 CHD9 80205 broad.mit.edu 37 16 53289642 53289642 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:53289642C>T ENST00000566029.1 + 19 4369 c.4160C>T c.(4159-4161)aCa>aTa p.T1387I CHD9_ENST00000398510.3_Missense_Mutation_p.T1387I|CHD9_ENST00000447540.1_Missense_Mutation_p.T1387I|CHD9_ENST00000564845.1_Missense_Mutation_p.T1387I Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1387 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CTACGTCGTACAAAAACTATT 0.393000 21 197 0 0 0.608945 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627104 140627104 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:140627104C>T ENST00000231173.3 + 1 1958 c.1958C>T c.(1957-1959)tCg>tTg p.S653L NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 653 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCGCGCTCGGCCACCGCC 0.697000 19 60 0 0 0.592651 0 0 MAP7 9053 broad.mit.edu 37 6 136710510 136710510 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:136710510C>G ENST00000354570.3 - 4 800 c.390G>C c.(388-390)caG>caC p.Q130H MAP7_ENST00000454590.1_Missense_Mutation_p.Q152H|MAP7_ENST00000438100.2_Missense_Mutation_p.Q152H|MAP7_ENST00000544465.1_Missense_Mutation_p.Q115H|MAP7_ENST00000432797.2_5'UTR NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 130 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CCTCAAGTCTCTGCCTCCGCT 0.562000 20 89 0 0 0.608945 0 0 CKAP2 26586 broad.mit.edu 37 13 53048164 53048164 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr13:53048164A>G ENST00000378037.5 + 8 1840 c.1750A>G c.(1750-1752)Acg>Gcg p.T584A CKAP2_ENST00000258607.5_Missense_Mutation_p.T583A|CKAP2_ENST00000490903.1_Missense_Mutation_p.T535A NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 584 apoptosis|cell cycle centrosome|microtubule|spindle pole breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) CAATACAGAAACGAGGACAAG 0.328000 12 43 0 0 0.411799 0 0 DCHS1 8642 broad.mit.edu 37 11 6662135 6662135 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:6662135G>T ENST00000299441.3 - 2 1121 c.710C>A c.(709-711)gCc>gAc p.A237D NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 237 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGGCCTGGGCCCTCCGGGG 0.597000 25 115 1.42536e-11 1.56393e-11 0.681144 1 0 UPP1 7378 broad.mit.edu 37 7 48146983 48146983 + Silent SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:48146983C>G ENST00000331803.4 + 9 1295 c.672C>G c.(670-672)ctC>ctG p.L224L UPP1_ENST00000395564.4_Silent_p.L224L|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Silent_p.L224L|UPP1_ENST00000429491.2_Silent_p.L87L Q16831 UPP1_HUMAN uridine phosphorylase 1 224 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 ATGGGGCTCTCTGCTCCTACA 0.582000 21 36 0 0 0.639603 0 0 CDKL5 6792 broad.mit.edu 37 X 18668577 18668577 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:18668577G>A ENST00000379989.3 + 21 3130 c.2845G>A c.(2845-2847)Gtc>Atc p.V949I RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.V949I|RS1_ENST00000379984.3_Intron NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 949 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) CACTCCGTGCGTCCCAAACCG 0.582000 23 59 0 0 0.654019 0 0 HIST1H2AH 85235 broad.mit.edu 37 6 27115271 27115271 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:27115271G>A ENST00000377459.1 + 1 411 c.364G>A c.(364-366)Gag>Aag p.E122K NM_080596.1 NP_542163.1 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 122 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1) 12 TAAGAAGACTGAGAGCCACCA 0.522000 5 43 0 0 0.217242 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 7 125 0 0 0.335167 0 0 PJA1 64219 broad.mit.edu 37 X 68381831 68381831 + Silent SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:68381831A>C ENST00000361478.1 - 2 1628 c.1251T>G c.(1249-1251)ccT>ccG p.P417P PJA1_ENST00000374571.4_Silent_p.P362P|PJA1_ENST00000374583.1_Silent_p.P417P|PJA1_ENST00000374584.3_Silent_p.P229P NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 417 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 CACCGGGGCCAGGGCTGGTGC 0.622000 8 55 0 0 0.335167 0 0 ATRNL1 26033 broad.mit.edu 37 10 117704198 117704198 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr10:117704198A>G ENST00000355044.3 + 29 4174 c.4048A>G c.(4048-4050)Att>Gtt p.I1350V ATRNL1_ENST00000303745.7_Missense_Mutation_p.I143V|ATRNL1_ENST00000423111.2_Missense_Mutation_p.I401V NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1350 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CCTAATAGATATTTCACAACA 0.423000 22 49 0 0 0.608945 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156431 70156431 + Silent SNP T T A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:70156431T>A ENST00000335568.5 + 5 1214 c.1212T>A c.(1210-1212)gcT>gcA p.A404A UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 404 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATAACATTGCTCACATGAAGG 0.453000 21 129 0 0 0.769981 0 0 GP5 2814 broad.mit.edu 37 3 194118839 194118839 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr3:194118839A>T ENST00000401815.1 - 1 244 c.173T>A c.(172-174)tTc>tAc p.F58Y GP5_ENST00000323007.3_Missense_Mutation_p.F58Y P40197 GPV_HUMAN glycoprotein V (platelet) 58 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GCCCATTCCGAAGAGCAGGAT 0.677000 46 73 0 0 0.870114 0 0 ADCYAP1 116 broad.mit.edu 37 18 909585 909585 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr18:909585G>C ENST00000579794.1 + 4 758 c.480G>C c.(478-480)aaG>aaC p.K160N ADCYAP1_ENST00000450565.3_Missense_Mutation_p.K160N NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 160 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 TCCTAGGGAAGAGGTATAAAC 0.507000 13 194 0 0 0.435327 0 0 PRDM10 56980 broad.mit.edu 37 11 129827743 129827743 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:129827743G>A ENST00000358825.5 - 3 363 c.132C>T c.(130-132)cgC>cgT p.R44R PRDM10_ENST00000528746.1_Silent_p.R44R|PRDM10_ENST00000360871.3_Silent_p.R44R NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 44 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) GCTGTGGGGGGCGAACCTGGT 0.537000 51 182 0 0 0.870114 0 0 HRC 3270 broad.mit.edu 37 19 49657913 49657913 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:49657913C>T ENST00000252825.4 - 1 768 c.582G>A c.(580-582)gaG>gaA p.E194E HRC_ENST00000595625.1_Silent_p.E194E NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 194 4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic). muscle contraction sarcoplasmic reticulum lumen calcium ion binding p.E194E(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) cctcctcctcctcttcTCCTT 0.557000 4 56 0 0 0.184627 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 116 0 0 0.184627 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257171 9257171 + Silent SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr18:9257171A>G ENST00000383440.2 + 8 4094 c.3837A>G c.(3835-3837)agA>agG p.R1279R ANKRD12_ENST00000262126.3_Silent_p.R1302R|ANKRD12_ENST00000400020.3_Silent_p.R1279R NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1302 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GCGAGGGGAGACCTACCATAG 0.398000 50 70 0 0 0.870114 0 0 DNA2 1763 broad.mit.edu 37 10 70204742 70204742 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr10:70204742T>C ENST00000399180.2 - 8 1413 c.1414A>G c.(1414-1416)Ata>Gta p.I472V DNA2_ENST00000358410.3_Missense_Mutation_p.I386V|DNA2_ENST00000399179.2_Missense_Mutation_p.I386V P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 386 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 TCCTCAATTATTTGTGGCAAA 0.343000 20 44 0 0 0.557998 0 0 GON4L 54856 broad.mit.edu 37 1 155736338 155736338 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:155736338C>T ENST00000437809.1 - 21 3048 c.2926G>A c.(2926-2928)Ggt>Agt p.G976S GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.G976S|GON4L_ENST00000361040.5_Missense_Mutation_p.G976S|GON4L_ENST00000271883.5_Missense_Mutation_p.G976S Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 976 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AGGACTACACCCTTAGGCAAT 0.498000 19 66 0 0 0.557998 0 0 UGDH 7358 broad.mit.edu 37 4 39512453 39512453 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:39512453A>G ENST00000316423.6 - 4 635 c.293T>C c.(292-294)aTg>aCg p.M98T UGDH_ENST00000507089.1_Start_Codon_SNP_p.M1T|UGDH_ENST00000506179.1_Missense_Mutation_p.M98T|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000515398.1_5'UTR NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 98 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) GCCTTTCCCCATTCCATAGGT 0.413000 20 67 0 0 0.592651 0 0 HERPUD1 9709 broad.mit.edu 37 16 56974084 56974084 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:56974084C>T ENST00000439977.2 + 6 1029 c.832C>T c.(832-834)Ctc>Ttc p.L278F HERPUD1_ENST00000379792.2_Missense_Mutation_p.L253F|HERPUD1_ENST00000570273.1_Intron|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.L277F NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 278 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 TTCTGTTTTTCTCAGTATCCT 0.433000 T ERG prostate 81 70 0 0 0.870114 0 0 TTC39B 158219 broad.mit.edu 37 9 15185309 15185309 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:15185309G>A ENST00000355694.2 - 16 1619 c.1385C>T c.(1384-1386)cCt>cTt p.P462L TTC39B_ENST00000380850.4_Missense_Mutation_p.P515L|TTC39B_ENST00000512701.1_Missense_Mutation_p.P528L|TTC39B_ENST00000507993.1_Missense_Mutation_p.P363L|TTC39B_ENST00000297615.5_Missense_Mutation_p.P459L|TTC39B_ENST00000507285.1_Missense_Mutation_p.P363L NM_001168339.1|NM_152574.2 NP_001161811.1|NP_689787.2 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 462 binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 CACAGGTGCAGGTAAGGAGGC 0.473000 43 102 0 0 0.840704 0 0 CDH3 1001 broad.mit.edu 37 16 68712178 68712178 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:68712178C>G ENST00000264012.4 + 4 932 c.388C>G c.(388-390)Cag>Gag p.Q130E CDH3_ENST00000581171.1_Missense_Mutation_p.Q75E|CDH3_ENST00000429102.2_Missense_Mutation_p.Q130E NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 130 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) GAGACTGAATCAGGTACGACT 0.527000 9 34 0 0 0.335167 0 0 CSRP3 8048 broad.mit.edu 37 11 19209725 19209725 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:19209725A>T ENST00000533783.1 - 4 479 c.239T>A c.(238-240)cTc>cAc p.L80H CSRP3_ENST00000265968.3_Missense_Mutation_p.L80H NM_003476.4 NP_003467.1 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 (cardiac LIM protein) 80 cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 GTCTGTGCTGAGACAGCCAGC 0.567000 18 97 0 0 0.520397 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156462 70156462 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:70156462C>T ENST00000335568.5 + 5 1245 c.1243C>T c.(1243-1245)Ctg>Ttg p.L415L UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 415 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AGCTGTTAGACTGGACTTCCA 0.443000 12 138 0 0 0.681144 0 0 LRRK2 120892 broad.mit.edu 37 12 40715964 40715964 + Silent SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr12:40715964A>T ENST00000298910.7 + 36 5356 c.5298A>T c.(5296-5298)acA>acT p.T1766T NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1766 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TAAAAATTACAGTTCCTTCTT 0.303000 9 35 0 0 0.307466 0 0 RBM42 79171 broad.mit.edu 37 19 36124784 36124784 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:36124784G>A ENST00000262633.4 + 7 985 c.880G>A c.(880-882)Gag>Aag p.E294K RBM42_ENST00000592202.1_Missense_Mutation_p.E240K|RBM42_ENST00000589559.1_Missense_Mutation_p.E265K|RBM42_ENST00000588161.1_Missense_Mutation_p.E264K|RBM42_ENST00000589871.1_Missense_Mutation_p.E272K|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000360475.4_Missense_Mutation_p.E265K NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 294 Necessary for interaction with HNRNPK (By similarity).|Pro-rich. cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCCATTGCCCGAGCCTGAGCC 0.746000 4 8 0 0 0.217242 0 0 HR 55806 broad.mit.edu 37 8 21986633 21986633 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr8:21986633C>T ENST00000381418.4 - 2 1531 c.51G>A c.(49-51)acG>acA p.T17T HR_ENST00000312841.8_Silent_p.T17T NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 17 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TCTCTGGGGCCGTCTTCTCCC 0.652000 4 78 0 0 0.150653 0 0 COL5A1 1289 broad.mit.edu 37 9 137620520 137620520 + Missense_Mutation SNP C C T rs148548209 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:137620520C>T ENST00000371817.3 + 6 1205 c.791C>T c.(790-792)aCg>aTg p.T264M NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 264 Nonhelical 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) TTTCAGTACACGGAAGGAGAC 0.612000 46 173 0 0 0.870114 0 0 MTOR 2475 broad.mit.edu 37 1 11297982 11297982 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:11297982T>C ENST00000361445.4 - 13 2202 c.2126A>G c.(2125-2127)gAg>gGg p.E709G NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 709 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GATGGCCAGCTCCCGGATCTC 0.582000 12 33 0 0 0.411799 0 0 DCST1 149095 broad.mit.edu 37 1 155018958 155018958 + Missense_Mutation SNP C C A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:155018958C>A ENST00000295542.1 + 13 1587 c.1491C>A c.(1489-1491)ttC>ttA p.F497L DCST1_ENST00000392480.1_Missense_Mutation_p.F497L|DCST1_ENST00000368419.2_Missense_Mutation_p.F497L|DCST1_ENST00000423025.2_Missense_Mutation_p.F472L NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 497 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 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) AGTACTCCTTCCGCAGTAAGC 0.582000 10 36 0.010729 0.0109367 0.387290 1 0 PRAMEF16 654348 broad.mit.edu 37 1 13497673 13497673 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:13497673G>C ENST00000376121.3 + 3 1000 c.970G>C c.(970-972)Gag>Cag p.E324Q NM_001045480.1 NP_001038945.1 Q5VWM1 PRA16_HUMAN PRAME family member 16 324 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGCTAAAGGAGCTGCATCT 0.473000 10 93 0 0 0.769981 0 0 CADM2 253559 broad.mit.edu 37 3 86114798 86114798 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr3:86114798C>T ENST00000383699.3 + 9 1641 c.1014C>T c.(1012-1014)ctC>ctT p.L338L CADM2_ENST00000407528.2_Silent_p.L369L|CADM2_ENST00000405615.2_Silent_p.L371L NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 369 Thr-rich. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ACCATGCTCTCATAGGAGGAA 0.403000 6 18 0 0 0.248553 0 0 IL24 11009 broad.mit.edu 37 1 207072852 207072852 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:207072852G>A ENST00000367093.3 + 3 509 c.235G>A c.(235-237)Gac>Aac p.D79N IL24_ENST00000491169.1_Intron|IL24_ENST00000391929.3_Missense_Mutation_p.D79N|IL24_ENST00000294984.2_Missense_Mutation_p.D78N NM_001185157.1|NM_001185158.1 NP_001172086.1|NP_001172087.1 Q13007 IL24_HUMAN interleukin 24 78 apoptosis extracellular space cytokine activity endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(84;0.201) GGCTGTGAAAGACACTATGGT 0.572000 15 56 0 0 0.457914 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597369 136597369 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:136597369C>T ENST00000531224.1 - 5 1546 c.1294G>A c.(1294-1296)Gag>Aag p.E432K BCLAF1_ENST00000527759.1_Missense_Mutation_p.E430K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E430K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E430K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E432K|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 432 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) CCTTCCTCCTCAGTATTCCGG 0.413000 13 218 0 0 0.457914 0 0 PQLC2 54896 broad.mit.edu 37 1 19653876 19653876 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:19653876C>T ENST00000375153.3 + 7 1414 c.774C>T c.(772-774)ggC>ggT p.G258G PQLC2_ENST00000400548.2_Silent_p.G193G|PQLC2_ENST00000375155.3_Silent_p.G258G NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 258 integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCTTGTGGGCAGCCTGGGCG 0.652000 8 32 0 0 0.278610 0 0 MIB1 57534 broad.mit.edu 37 18 19424087 19424087 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr18:19424087A>T ENST00000261537.6 + 15 2348 c.2084A>T c.(2083-2085)cAg>cTg p.Q695L MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 695 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) CTTGATATTCAGGATAAGGAT 0.433000 7 63 0 0 0.278610 0 0 RRH 10692 broad.mit.edu 37 4 110758732 110758732 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:110758732G>T ENST00000317735.4 + 5 725 c.691G>T c.(691-693)Gac>Tac p.D231Y NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 231 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) CCTCAACAGAGACTGGTCAGA 0.403000 7 23 0.000157383 0.000165777 0.278610 1 0 CCDC60 160777 broad.mit.edu 37 12 119917004 119917004 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr12:119917004C>G ENST00000327554.2 + 4 912 c.447C>G c.(445-447)caC>caG p.H149Q CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 149 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CCGAGGCTCACGTGTAAGTAG 0.478000 5 28 0 0 0.217242 0 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 5 97 0 0 0.184627 0 0 ITGA7 3679 broad.mit.edu 37 12 56091493 56091493 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr12:56091493G>A ENST00000257880.7 - 10 1746 c.1527C>T c.(1525-1527)acC>acT p.T509T ITGA7_ENST00000555728.1_Silent_p.T509T|ITGA7_ENST00000553804.1_Silent_p.T469T|ITGA7_ENST00000452168.2_Silent_p.T372T|ITGA7_ENST00000257879.6_Silent_p.T465T|ITGA7_ENST00000394229.2_Silent_p.T465T|ITGA7_ENST00000394230.2_Silent_p.T469T|ITGA7_ENST00000347027.6_Silent_p.T465T Q13683 ITA7_HUMAN integrin, alpha 7 509 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AGAGCACTGCGGTGTCAGCCA 0.597000 19 53 0 0 0.575678 0 0 ST5 6764 broad.mit.edu 37 11 8728695 8728695 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:8728695C>T ENST00000534127.1 - 16 2893 c.2508G>A c.(2506-2508)tcG>tcA p.S836S ST5_ENST00000526099.1_Silent_p.S349S|ST5_ENST00000357665.1_Silent_p.S836S|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Silent_p.S836S|ST5_ENST00000530438.1_Silent_p.S416S|ST5_ENST00000530991.1_Silent_p.S308S|ST5_ENST00000534278.1_Silent_p.S27S|ST5_ENST00000526757.1_Silent_p.S416S NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 836 DENN. positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CTGGGAAGGGCGACTCCATGA 0.592000 11 33 0 0 0.361761 0 0 CCDC80 151887 broad.mit.edu 37 3 112324383 112324383 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr3:112324383G>A ENST00000206423.3 - 8 3687 c.2734C>T c.(2734-2736)Cgc>Tgc p.R912C CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 912 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 TCTGGGCAGCGCATCCCCAGT 0.473000 3 38 0 0 0.115264 0 0 SYNE1 23345 broad.mit.edu 37 6 152694261 152694261 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:152694261C>T ENST00000367255.5 - 59 10019 c.9418G>A c.(9418-9420)Gcg>Acg p.A3140T SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3140 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCCCTTTCGCTTTCTCTTTG 0.393000 HNSCC(10;0.0054) 29 118 0 0 0.729181 0 0 TCERG1 10915 broad.mit.edu 37 5 145878147 145878147 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:145878147C>G ENST00000296702.5 + 16 2318 c.2280C>G c.(2278-2280)ttC>ttG p.F760L TCERG1_ENST00000394421.2_Missense_Mutation_p.F739L NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 760 FF 2. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTCAAGATTCAAAGCAATTG 0.388000 16 43 0 0 0.539581 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156461 70156461 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:70156461A>T ENST00000335568.5 + 5 1244 c.1242A>T c.(1240-1242)agA>agT p.R414S UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 414 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CAGCTGTTAGACTGGACTTCC 0.443000 12 132 0 0 0.681144 0 0 DLG5 9231 broad.mit.edu 37 10 79569435 79569435 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr10:79569435T>C ENST00000372391.2 - 24 4522 c.4517A>G c.(4516-4518)aAa>aGa p.K1506R DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.K1166R NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1506 PDZ 4. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTGGGACTTTTTGATGAAGAC 0.542000 70 162 0 0 0.870114 0 0 FAM161A 84140 broad.mit.edu 37 2 62067206 62067206 + Missense_Mutation SNP C C A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:62067206C>A ENST00000404929.1 - 3 944 c.933G>T c.(931-933)aaG>aaT p.K311N FAM161A_ENST00000405894.3_Missense_Mutation_p.K311N NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 311 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGCTTTTCTCCTTCAGAGACC 0.443000 17 132 4.96729e-08 5.30292e-08 0.575678 1 0 SPRY2 10253 broad.mit.edu 37 13 80911560 80911560 + Missense_Mutation SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr13:80911560A>C ENST00000377102.1 - 2 1258 c.281T>G c.(280-282)cTc>cGc p.L94R SPRY2_ENST00000540649.1_Missense_Mutation_p.L94R|SPRY2_ENST00000377104.3_Missense_Mutation_p.L94R O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 94 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) CGAGTGCTGGAGCCTAGGAGG 0.622000 17 62 0 0 0.539581 0 0 FAM172A 83989 broad.mit.edu 37 5 93294538 93294538 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:93294538T>C ENST00000395965.3 - 6 653 c.511A>G c.(511-513)Ata>Gta p.I171V FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Missense_Mutation_p.I125V|FAM172A_ENST00000509739.1_Intron NM_032042.5 NP_114431.2 Q8WUF8 F172A_HUMAN family with sequence similarity 172, member A 171 endoplasmic reticulum|extracellular region endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 TCTTCATTTATAATAAGTCTT 0.388000 16 81 0 0 0.575678 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011580 46011580 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr21:46011580G>T ENST00000400368.1 - 1 806 c.786C>A c.(784-786)acC>acA p.T262T TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 262 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGGGGGAGGAGGTGCAGCAAG 0.652000 28 84 2.68265e-12 2.96405e-12 0.769981 1 0 OR6B2 389090 broad.mit.edu 37 2 240969562 240969562 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:240969562G>T ENST00000402971.2 - 1 344 c.285C>A c.(283-285)gtC>gtA p.V95V NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) TCATGCACCCGACGAAAGAGA 0.577000 8 46 1.76689e-08 1.91212e-08 0.335167 1 0 ABHD10 55347 broad.mit.edu 37 3 111697969 111697969 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr3:111697969G>T ENST00000273359.3 + 1 88 c.61G>T c.(61-63)Gca>Tca p.A21S ABHD10_ENST00000534857.1_5'UTR|ABHD10_ENST00000494817.1_Missense_Mutation_p.A21S NM_018394.2 NP_060864.1 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 21 mitochondrion serine-type peptidase activity large_intestine(2)|lung(7)|skin(1) 10 CTGGGGCTGGGCAGCCGTCCC 0.687000 6 31 0.00116845 0.00122261 0.217242 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 24 0 0 0.115264 0 0 DLX1 1745 broad.mit.edu 37 2 172951395 172951395 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:172951395G>A ENST00000361725.4 + 2 779 c.327G>A c.(325-327)gaG>gaA p.E109E DLX1_ENST00000341900.6_Intron NM_178120.4 NP_835221.2 P56177 DLX1_HUMAN distal-less homeobox 1 109 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|lung(4)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.216) CGGACTCGGAGAAGAGCACGG 0.567000 21 90 0 0 0.608945 0 0 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G T rs28934874 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr17:7578479G>T ENST00000420246.2 - 5 583 c.451C>A c.(451-453)Ccc>Acc p.P151T TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000445888.2_Missense_Mutation_p.P151T|TP53_ENST00000269305.4_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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) CCGGGCGGGGGTGTGGAATCA 0.612000 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) 25 33 3.65163e-15 4.12112e-15 0.706142 1 0 NPY 4852 broad.mit.edu 37 7 24324986 24324986 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:24324986G>A ENST00000407573.1 + 3 417 c.127G>A c.(127-129)Gag>Aag p.E43K NPY_ENST00000405982.1_Missense_Mutation_p.E43K|NPY_ENST00000242152.2_Missense_Mutation_p.E43K P01303 NPY_HUMAN neuropeptide Y 43 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 CGCACCAGCGGAGGACATGGC 0.682000 7 27 0 0 0.248553 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156926233 156926233 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:156926233C>T ENST00000368194.3 - 19 2689 c.1650G>A c.(1648-1650)ccG>ccA p.P550P ARHGEF11_ENST00000361409.2_Silent_p.P510P NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 510 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) TAGGGAAGAACGGTAGCCACT 0.552000 21 86 0 0 0.592651 0 0 DCAF13 25879 broad.mit.edu 37 8 104453792 104453792 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr8:104453792C>G ENST00000297579.5 + 10 1929 c.1652C>G c.(1651-1653)tCt>tGt p.S551C NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 399 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CTACCAAAATCTATCTATAGC 0.393000 26 112 0 0 0.706142 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44507028 44507028 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr20:44507028G>A ENST00000255152.2 + 2 2040 c.1831G>A c.(1831-1833)Gag>Aag p.E611K ZSWIM3_ENST00000454862.2_Missense_Mutation_p.E605K NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 611 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) AGGCCAGCCTGAGAAGCAAGG 0.587000 18 80 0 0 0.557998 0 0 CASP8 841 broad.mit.edu 37 2 202131498 202131498 + Nonsense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:202131498C>T ENST00000358485.4 + 2 662 c.466C>T c.(466-468)Caa>Taa p.Q156* CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q97*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q97*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q97* NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 97 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AGGCAGGGCTCAAATTTCTGC 0.488000 HNSCC(4;0.00038) 5 18 0 0 0.184627 0 0 CD1E 913 broad.mit.edu 37 1 158326543 158326543 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:158326543C>T ENST00000444681.2 + 5 1020 c.727C>T c.(727-729)Cac>Tac p.H243Y CD1E_ENST00000368167.3_Missense_Mutation_p.H342Y|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000452291.2_Missense_Mutation_p.H153Y|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.H252Y|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368154.1_Missense_Mutation_p.H98Y|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368157.1_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 342 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TCTTTCTCCCCACACACCCAG 0.413000 9 50 0 0 0.335167 0 0 EVI5L 115704 broad.mit.edu 37 19 7916349 7916349 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:7916349C>T ENST00000270530.4 + 7 979 c.783C>T c.(781-783)ttC>ttT p.F261F EVI5L_ENST00000538904.2_Silent_p.F261F NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 261 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 ACACCCACTTCCGTTCCCAAA 0.647000 11 68 0 0 0.411799 0 0 FOXP1 27086 broad.mit.edu 37 3 71247175 71247175 + Nonsense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr3:71247175C>T ENST00000318779.3 - 7 700 c.225G>A c.(223-225)tgG>tgA p.W75* FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000484350.1_Intron NM_001012505.1 NP_001012523.1 Q9H334 FOXP1_HUMAN forkhead box P1 0 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GTCTCTTAAGCCAACTGCTGG 0.517000 T PAX5 ALL 11 31 0 0 0.361761 0 0 SLC12A9 56996 broad.mit.edu 37 7 100457855 100457855 + Splice_Site SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:100457855G>A ENST00000354161.3 + 9 1343 c.e9+1 SLC12A9_ENST00000415287.1_Splice_Site|SLC12A9_ENST00000475623.1_Splice_Site|SLC12A9_ENST00000275729.3_Splice_Site|SLC12A9_ENST00000428758.1_Splice_Site|SLC12A9_ENST00000540482.1_Splice_Site NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CCTGGTGCAGGTGAGCCTTCT 0.562000 8 26 0 0 0.278610 0 0 SLC47A2 146802 broad.mit.edu 37 17 19605988 19605988 + Splice_Site SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr17:19605988C>G ENST00000350657.5 - 14 1311 c.e14-1 SLC47A2_ENST00000325411.5_Splice_Site|SLC47A2_ENST00000463318.1_Splice_Site NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) AATGACATCTCTGCAGAAGAA 0.453000 6 13 0 0 0.217242 0 0 ZNF320 162967 broad.mit.edu 37 19 53384668 53384668 + Missense_Mutation SNP T T A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:53384668T>A ENST00000595635.1 - 8 1212 c.711A>T c.(709-711)agA>agT p.R237S ZNF320_ENST00000391781.2_Missense_Mutation_p.R237S|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) CAGTATGACTTCTATGATGAC 0.398000 10 66 0 0 0.361761 0 0 XIST 7503 broad.mit.edu 37 X 73062364 73062364 + RNA SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:73062364A>G ENST00000429829.1 - 0 10224 NR_001564.2 TTATCCACCTAGTTCAGGCCT 0.423000 3 27 0 0 0.150653 0 0 NUMA1 4926 broad.mit.edu 37 11 71717271 71717271 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:71717271C>T ENST00000393695.3 - 22 5833 c.5502G>A c.(5500-5502)tcG>tcA p.S1834S NUMA1_ENST00000351960.6_Silent_p.S698S|NUMA1_ENST00000358965.6_Silent_p.S1820S NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1834 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TGCTGTAGAACGATGAGTTGG 0.552000 T RARA APL 6 56 0 0 0.248553 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117959641 117959641 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:117959641C>T ENST00000310164.2 + 4 941 c.434C>T c.(433-435)gCc>gTc p.A145V NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 ggggagaaagcctccctttat 0.483000 35 110 0 0 0.788014 0 0 ARRB2 409 broad.mit.edu 37 17 4623596 4623596 + Splice_Site SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr17:4623596T>G ENST00000269260.2 + 12 1234 c.e12+2 ARRB2_ENST00000571206.1_Splice_Site|ARRB2_ENST00000572457.1_Splice_Site|ARRB2_ENST00000412477.3_Splice_Site|ARRB2_ENST00000574954.1_Splice_Site|ARRB2_ENST00000381488.6_Splice_Site|ARRB2_ENST00000346341.2_Splice_Site|ARRB2_ENST00000575877.1_Splice_Site NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding p.?(1) large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TCGAGGCGGGTGAGTGTCATG 0.607000 5 22 0 0 0.435327 0 0 CHURC1 91612 broad.mit.edu 37 14 65390788 65390788 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr14:65390788T>C ENST00000607599.1 + 2 254 c.200T>C c.(199-201)cTg>cCg p.L67P CHURC1_ENST00000359118.2_Missense_Mutation_p.L40P|CHURC1-FNTB_ENST00000542227.1_5'UTR|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.L40P|CHURC1_ENST00000552002.2_Missense_Mutation_p.L40P|CHURC1_ENST00000548752.2_Missense_Mutation_p.L67P|CHURC1_ENST00000549115.1_Missense_Mutation_p.L67P NM_001204063.1|NM_145165.3 NP_001190992.1|NP_660148.3 churchill domain containing 1 breast(1)|pancreas(1) 2 all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976) GATTTTATGCTGATCACAAAC 0.383000 14 63 0 0 0.500413 0 0 CEP44 80817 broad.mit.edu 37 4 175232005 175232005 + Missense_Mutation SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:175232005T>G ENST00000503780.1 + 9 1371 c.957T>G c.(955-957)aaT>aaG p.N319K CEP44_ENST00000457424.2_Missense_Mutation_p.N319K|CEP44_ENST00000426172.1_Missense_Mutation_p.N319K|CEP44_ENST00000296519.4_Missense_Mutation_p.N319K NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 319 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 ACCTTCTGAATCCTCGTAAGT 0.274000 22 65 0 0 0.624587 0 0 THSD7A 221981 broad.mit.edu 37 7 11630197 11630197 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:11630197C>T ENST00000423059.3 - 4 1594 c.1343G>A c.(1342-1344)cGc>cAc p.R448H NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 448 TSP type-1 4. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTGGTTGCCGCGCCTCTTGTC 0.557000 HNSCC(18;0.044) 9 29 0 0 0.307466 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188217 140188217 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:140188217C>T ENST00000530339.1 + 1 1445 c.1445C>T c.(1444-1446)gCg>gTg p.A482V PCDHA4_ENST00000512229.2_Missense_Mutation_p.A482V|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A482V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGGACGCGGACGCGCAG 0.657000 16 59 0 0 0.575678 0 0 SMTN 6525 broad.mit.edu 37 22 31492832 31492832 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr22:31492832G>A ENST00000333137.7 + 14 2193 c.1975G>A c.(1975-1977)Gat>Aat p.D659N SMTN_ENST00000358743.1_Missense_Mutation_p.D659N|SMTN_ENST00000347557.2_Missense_Mutation_p.D659N|SMTN_ENST00000404574.1_Intron NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 659 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCGGGCAGCTGATGGCTCTGC 0.687000 19 55 0 0 0.639603 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661382 77661382 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:77661382G>A ENST00000296043.6 + 5 3009 c.2056G>A c.(2056-2058)Gag>Aag p.E686K NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 686 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGGAACCCAGGAGGGTTACCC 0.607000 53 72 0 0 0.870114 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 3 26 0 0 0.115264 0 0 KIAA1919 91749 broad.mit.edu 37 6 111587430 111587430 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:111587430G>A ENST00000368847.4 + 4 1018 c.665G>A c.(664-666)cGa>cAa p.R222Q NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 222 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GAGACATTTCGAAGAGCAAAA 0.343000 13 32 0 0 0.411799 0 0 PLOD3 8985 broad.mit.edu 37 7 100859997 100859997 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:100859997C>T ENST00000223127.3 - 2 578 c.180G>A c.(178-180)gaG>gaA p.E60E NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 60 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) AGTTGAAGAACTCCGCAGAGC 0.607000 7 30 0 0 0.307466 0 0 VCAN 1462 broad.mit.edu 37 5 82817939 82817939 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:82817939G>A ENST00000265077.3 + 7 4379 c.3814G>A c.(3814-3816)Gaa>Aaa p.E1272K VCAN_ENST00000342785.4_Missense_Mutation_p.E1272K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1224K NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1272 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAAGGAAACAGAAACCGATAT 0.453000 10 68 0 0 0.335167 0 0 TKTL2 84076 broad.mit.edu 37 4 164394114 164394114 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:164394114G>T ENST00000280605.3 - 1 933 c.773C>A c.(772-774)gCa>gAa p.A258E NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 258 cytoplasm metal ion binding|transketolase activity p.A258V(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCAATTTTCTGCATCCTCAAT 0.408000 24 93 5.61819e-17 6.38614e-17 0.693898 1 0 IRS4 8471 broad.mit.edu 37 X 107979062 107979062 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:107979062G>A ENST00000372129.2 - 1 589 c.513C>T c.(511-513)ttC>ttT p.F171F NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 171 PH. 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 CGTCTTGGGTGAAAAGAGCAA 0.597000 7 55 0 0 0.248553 0 0 COL5A1 1289 broad.mit.edu 37 9 137716559 137716559 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:137716559C>T ENST00000371817.3 + 62 5226 c.4812C>T c.(4810-4812)taC>taT p.Y1604Y NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1604 Nonhelical 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) ACGTGGACTACGCGGACGGCA 0.622000 12 29 0 0 0.435327 0 0 MCF2 4168 broad.mit.edu 37 X 138724625 138724625 + Splice_Site SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:138724625A>T ENST00000370576.4 - 1 261 c.e1+1 MCF2_ENST00000338585.6_Splice_Site|MCF2_ENST00000370573.4_Splice_Site|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000536274.1_Splice_Site|MCF2_ENST00000520602.1_Intron NM_001171879.1|NM_005369.4 NP_001165350.1|NP_005360.3 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CAGAGCCCTTACCGCATTCCT 0.488000 32 154 0 0 0.769981 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 3 37 0 0 0.184627 0 0 ROS1 6098 broad.mit.edu 37 6 117687343 117687343 + Missense_Mutation SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:117687343A>C ENST00000368508.3 - 18 2906 c.2708T>G c.(2707-2709)aTt>aGt p.I903S GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.I898S NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 903 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGTTGTGATAATCCTAAAGCC 0.423000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 16 106 0 0 0.520397 0 0 NUDT12 83594 broad.mit.edu 37 5 102894926 102894926 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:102894926A>T ENST00000230792.2 - 3 546 c.450T>A c.(448-450)ttT>ttA p.F150L NUDT12_ENST00000507423.1_Missense_Mutation_p.F132L NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 150 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) AGAAAAGAATAAAAACTGTGG 0.378000 8 42 0 0 0.307466 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2867251 2867251 + Silent SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr17:2867251G>C ENST00000254695.8 + 7 471 c.381G>C c.(379-381)ggG>ggC p.G127G RAP1GAP2_ENST00000366401.4_Silent_p.G112G|RAP1GAP2_ENST00000540393.2_Silent_p.G108G|RAP1GAP2_ENST00000542807.1_Silent_p.G127G|CTD-3060P21.1_ENST00000574885.1_RNA NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 127 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CATCGCTGGGGAGCAGCATCT 0.602000 11 35 0 0 0.361761 0 0 SON 6651 broad.mit.edu 37 21 34932318 34932318 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr21:34932318G>A ENST00000300278.4 + 7 6822 c.6793G>A c.(6793-6795)Gtt>Att p.V2265I SON_ENST00000381692.2_Intron|SON_ENST00000356577.4_Intron|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000290239.6_Intron NM_032195.1 NP_115571.1 P18583 SON_HUMAN SON DNA binding protein 0 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 AGAGAACAGTGTTATCACATC 0.458000 17 31 0 0 0.557998 0 0 ZNF107 51427 broad.mit.edu 37 7 64167053 64167053 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:64167053G>A ENST00000395391.1 + 4 1746 c.371G>A c.(370-372)aGa>aAa p.R124K ZNF107_ENST00000423627.1_Missense_Mutation_p.R124K|ZNF107_ENST00000344930.3_Missense_Mutation_p.R124K Q9UII5 ZN107_HUMAN zinc finger protein 107 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R124I(1) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CAGCATAGAAGAATTCATACT 0.328000 6 27 0 0 0.248553 0 0 EMC2 9694 broad.mit.edu 37 8 109465334 109465334 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr8:109465334G>C ENST00000220853.3 + 4 298 c.263G>C c.(262-264)aGa>aCa p.R88T NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 GGCAGTCACAGAGTCAAGCGA 0.398000 5 38 0 0 0.307466 0 0 DCST2 127579 broad.mit.edu 37 1 155006045 155006045 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:155006045G>T ENST00000368424.3 - 1 191 c.133C>A c.(133-135)Cta>Ata p.L45I DCST2_ENST00000295536.5_Missense_Mutation_p.L45I NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 45 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCACCAGTAGCTCCAGAAGC 0.632000 14 69 1.5739e-10 1.715e-10 0.500413 1 0 DOCK11 139818 broad.mit.edu 37 X 117775197 117775197 + Nonsense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:117775197G>T ENST00000276204.6 + 39 4263 c.4189G>T c.(4189-4191)Gaa>Taa p.E1397* DOCK11_ENST00000276202.7_Nonsense_Mutation_p.E1397* Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1397 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 GGCACTTCTTGAAGGCAATAC 0.368000 20 62 1.1804e-14 1.3134e-14 0.667858 1 0 ARID5B 84159 broad.mit.edu 37 10 63661489 63661489 + Splice_Site SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr10:63661489G>A ENST00000279873.7 + 1 431 c.21_splice c.e1+1 p.Q7_splice NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 7 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) ACTCACTCCAGGTATTTCGCT 0.587000 7 32 0 0 0.278610 0 0 ALKBH3 221120 broad.mit.edu 37 11 43923092 43923092 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:43923092G>C ENST00000302708.4 + 8 897 c.486G>C c.(484-486)aaG>aaC p.K162N ALKBH3_ENST00000532410.1_Intron NM_139178.3 NP_631917.1 Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) 162 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) GCACACTAAAGAACCGCATTG 0.488000 Direct reversal of damage 11 32 0 0 0.411799 0 0 VARS 7407 broad.mit.edu 37 6 31749380 31749380 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:31749380C>T ENST00000375663.3 - 21 2862 c.2422G>A c.(2422-2424)Gaa>Aaa p.E808K VARS_ENST00000482996.1_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 808 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CTCAGGTCTTCTGACTGAGGG 0.637000 13 40 0 0 0.435327 0 0 DACH1 1602 broad.mit.edu 37 13 72440352 72440352 + Nonsense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr13:72440352G>A ENST00000305425.4 - 1 978 c.556C>T c.(556-558)Cag>Tag p.Q186* DACH1_ENST00000359684.2_Nonsense_Mutation_p.Q186*|DACH1_ENST00000313174.7_Nonsense_Mutation_p.Q186*|DACH1_ENST00000354591.4_Nonsense_Mutation_p.Q186* NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 184 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TCATTATTCTGAGGGGTGTTT 0.607000 7 21 0 0 0.248553 0 0 DNAH10 196385 broad.mit.edu 37 12 124371815 124371815 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr12:124371815G>A ENST00000409039.3 + 51 8621 c.8596G>A c.(8596-8598)Gct>Act p.A2866T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2866 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGCCCATGTGGCTGAGGAGGG 0.542000 6 30 0 0 0.248553 0 0 TFEB 7942 broad.mit.edu 37 6 41655657 41655657 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:41655657C>T ENST00000394283.1 - 5 1885 c.659G>A c.(658-660)cGa>cAa p.R220Q TFEB_ENST00000230323.4_Missense_Mutation_p.R220Q|TFEB_ENST00000373033.1_Missense_Mutation_p.R220Q|TFEB_ENST00000403298.4_Missense_Mutation_p.R220Q|TFEB_ENST00000420312.1_Missense_Mutation_p.R135Q|TFEB_ENST00000358871.2_Missense_Mutation_p.R234Q P19484 TFEB_HUMAN transcription factor EB 220 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) TGTGAGCTCTCGCTTCTGGGT 0.612000 T ALPHA renal (childhood epithelioid) 14 53 0 0 0.479597 0 0 USP31 57478 broad.mit.edu 37 16 23117549 23117549 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:23117549G>A ENST00000219689.7 - 4 937 c.938C>T c.(937-939)cCt>cTt p.P313L NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 313 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GTGGGGCAGAGGAATTGGCAA 0.388000 9 46 0 0 0.335167 0 0 ZNF527 84503 broad.mit.edu 37 19 37879538 37879538 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:37879538A>T ENST00000436120.2 + 5 694 c.587A>T c.(586-588)tAt>tTt p.Y196F ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTGATATTTATGATAAACTC 0.323000 7 68 0 0 0.307466 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728770 20728770 + Missense_Mutation SNP T T G rs61742876 by1000genomes TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:20728770T>G ENST00000427401.4 - 4 333 c.239A>C c.(238-240)cAt>cCt p.H80P NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 80 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TCGGGCAAAATGAGAACACGT 0.323000 4 19 0 0 0.184627 0 0 FAM192A 80011 broad.mit.edu 37 16 57188404 57188404 + Missense_Mutation SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:57188404T>G ENST00000309137.8 - 7 821 c.563A>C c.(562-564)aAg>aCg p.K188T FAM192A_ENST00000389447.5_Missense_Mutation_p.K188T|FAM192A_ENST00000569266.1_Missense_Mutation_p.K188T|FAM192A_ENST00000564108.1_Missense_Mutation_p.K188T|FAM192A_ENST00000567439.1_Missense_Mutation_p.K188T|FAM192A_ENST00000566077.1_Missense_Mutation_p.K111T NM_024946.2 NP_079222.1 Q9GZU8 F192A_HUMAN family with sequence similarity 192, member A 188 nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 TCCGAGAGACTTGCAGGATGA 0.557000 8 35 0 0 0.307466 0 0 ATP10B 23120 broad.mit.edu 37 5 160063201 160063201 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:160063201G>T ENST00000327245.5 - 11 1962 c.1116C>A c.(1114-1116)atC>atA p.I372I CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 372 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAGCAGGATGATCATTGTGA 0.493000 10 48 3.86212e-05 4.0954e-05 0.361761 1 0 NFXL1 152518 broad.mit.edu 37 4 47898591 47898591 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:47898591G>A ENST00000507489.1 - 10 1454 c.1278C>T c.(1276-1278)atC>atT p.I426I NFXL1_ENST00000381538.3_Silent_p.I426I|NFXL1_ENST00000329043.3_Silent_p.I426I NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 426 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 AACATCTATGGATTCCGCATT 0.373000 7 38 0 0 0.307466 0 0 KIF3A 11127 broad.mit.edu 37 5 132069993 132069993 + Missense_Mutation SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:132069993T>G ENST00000378746.4 - 2 402 c.184A>C c.(184-186)Act>Cct p.T62P KIF3A_ENST00000378735.1_Missense_Mutation_p.T62P|KIF3A_ENST00000403231.1_Missense_Mutation_p.T62P NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 62 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTATCAAAAGTAAATGTCTTT 0.368000 38 126 0 0 0.796494 0 0 CYC1 1537 broad.mit.edu 37 8 145150852 145150852 + Silent SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr8:145150852G>C ENST00000318911.4 + 2 319 c.246G>C c.(244-246)gtG>gtC p.V82V NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 82 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATTCGGCTGTGAGTGCCAGTG 0.662000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 71 0 0 0.411799 0 0 GRID1 2894 broad.mit.edu 37 10 87615919 87615919 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr10:87615919A>G ENST00000327946.7 - 7 1065 c.980T>C c.(979-981)gTt>gCt p.V327A NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 327 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CAGCATCAGAACACTGTCATA 0.498000 Multiple Myeloma(13;0.14) 18 36 0 0 0.520397 0 0 TPST2 8459 broad.mit.edu 37 22 26932363 26932363 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr22:26932363C>T ENST00000338754.4 - 4 1202 c.932G>A c.(931-933)cGg>cAg p.R311Q TPST2_ENST00000403880.1_Missense_Mutation_p.R311Q|TPST2_ENST00000398110.2_Missense_Mutation_p.R311Q NM_003595.3 NP_003586.3 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 311 peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1)|large_intestine(1)|lung(5) 7 GGCCATGTCCCGCACCACATC 0.602000 5 26 0 0 0.184627 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672743 77672743 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr13:77672743T>C ENST00000407578.2 - 56 8812 c.8546A>G c.(8545-8547)aAt>aGt p.N2849S MYCBP2_ENST00000360084.5_Missense_Mutation_p.N334S|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N2811S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N2811S NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2811 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTGAGGTAGATTTTTATCATG 0.483000 22 56 0 0 0.639603 0 0 C19orf35 374872 broad.mit.edu 37 19 2276476 2276476 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:2276476C>T ENST00000342063.3 - 4 718 c.625G>A c.(625-627)Ggg>Agg p.G209R NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 209 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTCCGCCCCGGGCTTGGGC 0.701000 5 11 0 0 0.217242 0 0 CFTR 1080 broad.mit.edu 37 7 117292972 117292972 + Missense_Mutation SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr7:117292972A>C ENST00000003084.6 + 24 4082 c.3950A>C c.(3949-3951)aAa>aCa p.K1317T CFTR_ENST00000454343.1_Missense_Mutation_p.K1256T NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1317 ABC transporter 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAAATATGGAAAGTTGCAGAT 0.338000 Cystic Fibrosis 8 32 0 0 0.307466 0 0 PCLO 27445 broad.mit.edu 37 7 82585177 82585177 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr7:82585177C>T ENST00000423517.2 - 5 5429 c.5092G>A c.(5092-5094)Gaa>Aaa p.E1698K PCLO_ENST00000333891.8_Missense_Mutation_p.E1698K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1629 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATTTCCAATTCTGGCTCTTCG 0.433000 8 26 0 0 0.278610 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 4 52 0 0 0.184627 0 0 C16orf11 146325 broad.mit.edu 37 16 614994 614994 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr16:614994C>G ENST00000409413.3 + 3 1682 c.1403C>G c.(1402-1404)tCt>tGt p.S468C NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 468 central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 CTCGACCTCTCTGTGAAACGT 0.726000 3 13 0 0 0.115264 0 0 HIPK3 10114 broad.mit.edu 37 11 33308310 33308310 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr11:33308310A>G ENST00000303296.4 + 2 655 c.350A>G c.(349-351)cAt>cGt p.H117R HIPK3_ENST00000525975.1_Missense_Mutation_p.H117R|HIPK3_ENST00000379016.3_Missense_Mutation_p.H117R|HIPK3_ENST00000456517.1_Missense_Mutation_p.H117R NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 117 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 AACAGATTGCATTTCCTAGAA 0.498000 11 39 0 0 0.361761 0 0 FOCAD 54914 broad.mit.edu 37 9 20981679 20981679 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr9:20981679G>C ENST00000380249.1 + 40 4996 c.4632G>C c.(4630-4632)aaG>aaC p.K1544N FOCAD_ENST00000605086.1_Missense_Mutation_p.K980N|FOCAD_ENST00000338382.6_Missense_Mutation_p.K1544N NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1544 integral to membrane binding TGCCAAATAAGATTCGGGTGA 0.448000 5 48 0 0 0.217242 0 0 ARL13A 392509 broad.mit.edu 37 X 100240775 100240775 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chrX:100240775A>T ENST00000450049.2 + 4 363 c.250A>T c.(250-252)Aac>Tac p.N84Y NM_001162491.1 NP_001155963.1 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13A 84 GTP binding endometrium(1)|ovary(1) 2 AGCATGGCCAAACTACTATGC 0.468000 15 23 0 0 0.457914 0 0 PEX11G 92960 broad.mit.edu 37 19 7550795 7550795 + Missense_Mutation SNP T T A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr19:7550795T>A ENST00000221480.1 - 2 186 c.178A>T c.(178-180)Agg>Tgg p.R60W PEX11G_ENST00000593942.1_5'UTR NM_080662.2 NP_542393.1 Q96HA9 PX11C_HUMAN peroxisomal biogenesis factor 11 gamma 60 integral to membrane|peroxisomal membrane central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 7 AAGATGGTCCTGCAGTGGCTG 0.567000 17 42 0 0 0.500413 0 0 TAOK2 9344 broad.mit.edu 37 16 30002109 30002109 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr16:30002109G>A ENST00000279394.3 + 18 2853 c.2450G>A c.(2449-2451)cGg>cAg p.R817Q NM_004783.3 NP_004774.1 Q9UL54 TAOK2_HUMAN TAO kinase 2 696 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCCCAGCTGCGGCTTGATGAG 0.592000 18 48 0 0 0.592651 0 0 WDR66 144406 broad.mit.edu 37 12 122369654 122369654 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr12:122369654C>T ENST00000288912.4 + 4 1604 c.750C>T c.(748-750)acC>acT p.T250T WDR66_ENST00000397454.2_Silent_p.T250T NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 250 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TCTTCCAGACCATGACCTGGT 0.502000 3 25 0 0 0.115264 0 0 NAT8L 339983 broad.mit.edu 37 4 2065645 2065645 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:2065645G>A ENST00000423729.2 + 3 700 c.700G>A c.(700-702)Gag>Aag p.E234K NAT8L_ENST00000331662.3_Missense_Mutation_p.E66K NM_178557.3 NP_848652.2 Q8N9F0 NAT8L_HUMAN N-acetyltransferase 8-like (GCN5-related, putative) 234 N-acetyltransferase. integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane aspartate N-acetyltransferase activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0315) GAAGGTGCTGGAGTTCGCCGT 0.652000 6 24 0 0 0.217242 0 0 MIR891B 100126304 broad.mit.edu 37 X 145082599 145082599 + RNA SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chrX:145082599C>T ENST00000401245.1 - 0 50 NR_030590.1 aaacatgtgCCATTGAATGTT 0.378000 13 60 0 0 0.435327 0 0 FGF1 2246 broad.mit.edu 37 5 141974914 141974914 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr5:141974914G>A ENST00000359370.6 - 4 488 c.409C>T c.(409-411)Cgg>Tgg p.R137W FGF1_ENST00000378046.1_Missense_Mutation_p.R137W|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000337706.2_Missense_Mutation_p.R137W|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000419524.2_Missense_Mutation_p.R137W|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000360966.5_3'UTR NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2 NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) 137 Heparin-binding. angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding large_intestine(1)|lung(2) 3 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) TAGTGAGTCCGAGGACCGCGT 0.478000 15 41 0 0 0.457914 0 0 BMP10 27302 broad.mit.edu 37 2 69093551 69093551 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr2:69093551G>T ENST00000295379.1 - 2 645 c.487C>A c.(487-489)Cgg>Agg p.R163R NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 163 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GTAATTTTCCGGTCTACTCCA 0.448000 3 33 0.115264 0.116678 0.115264 1 0 IGHD 3495 broad.mit.edu 37 14 106304821 106304821 + RNA SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr14:106304821T>G ENST00000390556.2 - 0 1125 tagtatttcttattgcatttt 0.423000 3 6 0 0 0.115264 0 0 SERINC1 57515 broad.mit.edu 37 6 122777667 122777667 + Silent SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:122777667T>C ENST00000368454.1 - 5 659 c.330A>G c.(328-330)aaA>aaG p.K110K SERINC1_ENST00000339697.3_Silent_p.K110K Q9NRX5 SERC1_HUMAN serine incorporator 1 110 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) TACTCTTCACTTTGATCATTA 0.378000 11 38 0 0 0.411799 0 0 KCNF1 3754 broad.mit.edu 37 2 11053801 11053801 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr2:11053801C>T ENST00000295082.1 + 1 1739 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 417 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CAACAAGCAGCGCGTCCTGGA 0.617000 6 20 0 0 0.217242 0 0 ADRA1A 148 broad.mit.edu 37 8 26627932 26627932 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr8:26627932C>T ENST00000380573.3 - 3 2158 c.1135G>A c.(1135-1137)Gtg>Atg p.V379M ADRA1A_ENST00000276393.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V379M|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V379M|ADRA1A_ENST00000519229.1_Missense_Mutation_p.V379M|ADRA1A_ENST00000380581.2_Intron P35348 ADA1A_HUMAN adrenoceptor alpha 1A 379 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CTTGATCCCACGGGGATGCGC 0.552000 23 78 0 0 0.624587 0 0 MYCBP2 23077 broad.mit.edu 37 13 77625998 77625998 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr13:77625998T>C ENST00000407578.2 - 81 13969 c.13703A>G c.(13702-13704)tAt>tGt p.Y4568C MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y4530C|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y4530C NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCTGGGATCATAATCATCTCC 0.428000 7 22 0 0 0.361761 0 0 FAT1 2195 broad.mit.edu 37 4 187524850 187524850 + Nonsense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:187524850G>C ENST00000441802.2 - 19 11039 c.10830C>G c.(10828-10830)taC>taG p.Y3610* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3610 Cadherin 33. 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 CATTGAGAAGGTATTGCCCTA 0.498000 HNSCC(5;0.00058) 6 20 0 0 0.217242 0 0 COL27A1 85301 broad.mit.edu 37 9 116930511 116930511 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr9:116930511C>T ENST00000356083.3 + 3 1067 c.676C>T c.(676-678)Cac>Tac p.H226Y NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 226 Laminin G-like. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCAGGTCGCTCACAATTACTG 0.557000 24 64 0 0 0.681144 0 0 WDR18 57418 broad.mit.edu 37 19 985937 985937 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr19:985937G>A ENST00000251289.5 + 2 306 c.283G>A c.(283-285)Gtc>Atc p.V95I WDR18_ENST00000587001.2_Missense_Mutation_p.V95I|WDR18_ENST00000591997.1_3'UTR NM_024100.3 NP_077005.2 Q9BV38 WDR18_HUMAN WD repeat domain 18 95 p.V95I(1) endometrium(1)|kidney(2)|lung(2)|skin(2) 7 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCTCTACGTCCTGGCAGG 0.572000 4 37 0 0 0.184627 0 0 OR4N5 390437 broad.mit.edu 37 14 20612330 20612330 + Silent SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr14:20612330T>C ENST00000333629.1 + 1 436 c.436T>C c.(436-438)Ttg>Ctg p.L146L NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGCATTATCGTTGGTTCTGTG 0.498000 12 117 0 0 0.435327 0 0 DCST2 127579 broad.mit.edu 37 1 155006045 155006045 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:155006045G>T ENST00000368424.3 - 1 191 c.133C>A c.(133-135)Cta>Ata p.L45I DCST2_ENST00000295536.5_Missense_Mutation_p.L45I NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 45 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCACCAGTAGCTCCAGAAGC 0.632000 14 69 1.5739e-10 1.69734e-10 0.500413 1 0 CHD9 80205 broad.mit.edu 37 16 53289642 53289642 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr16:53289642C>T ENST00000566029.1 + 19 4369 c.4160C>T c.(4159-4161)aCa>aTa p.T1387I CHD9_ENST00000447540.1_Missense_Mutation_p.T1387I|CHD9_ENST00000398510.3_Missense_Mutation_p.T1387I|CHD9_ENST00000564845.1_Missense_Mutation_p.T1387I Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1387 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CTACGTCGTACAAAAACTATT 0.393000 21 197 0 0 0.608945 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627104 140627104 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr5:140627104C>T ENST00000231173.3 + 1 1958 c.1958C>T c.(1957-1959)tCg>tTg p.S653L NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 653 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCGCGCTCGGCCACCGCC 0.697000 19 60 0 0 0.592651 0 0 MST1L 11223 broad.mit.edu 37 1 17085364 17085364 + RNA SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:17085364G>A ENST00000455405.2 - 0 3 CAGGGCCCATGGCTATCCCCA 0.597000 3 49 0 0 0.150653 0 0 MAP7 9053 broad.mit.edu 37 6 136710510 136710510 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:136710510C>G ENST00000354570.3 - 4 800 c.390G>C c.(388-390)caG>caC p.Q130H MAP7_ENST00000454590.1_Missense_Mutation_p.Q152H|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.Q115H|MAP7_ENST00000438100.2_Missense_Mutation_p.Q152H NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 130 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CCTCAAGTCTCTGCCTCCGCT 0.562000 20 89 0 0 0.608945 0 0 CKAP2 26586 broad.mit.edu 37 13 53048164 53048164 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr13:53048164A>G ENST00000378037.5 + 8 1840 c.1750A>G c.(1750-1752)Acg>Gcg p.T584A CKAP2_ENST00000490903.1_Missense_Mutation_p.T535A|CKAP2_ENST00000258607.5_Missense_Mutation_p.T583A NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 584 apoptosis|cell cycle centrosome|microtubule|spindle pole breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) CAATACAGAAACGAGGACAAG 0.328000 12 43 0 0 0.411799 0 0 DCHS1 8642 broad.mit.edu 37 11 6662135 6662135 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr11:6662135G>T ENST00000299441.3 - 2 1121 c.710C>A c.(709-711)gCc>gAc p.A237D NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 237 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGGCCTGGGCCCTCCGGGG 0.597000 25 115 1.42536e-11 1.54726e-11 0.681144 1 0 UPP1 7378 broad.mit.edu 37 7 48146983 48146983 + Silent SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr7:48146983C>G ENST00000331803.4 + 9 1295 c.672C>G c.(670-672)ctC>ctG p.L224L UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Silent_p.L224L|UPP1_ENST00000395564.4_Silent_p.L224L|UPP1_ENST00000429491.2_Silent_p.L87L Q16831 UPP1_HUMAN uridine phosphorylase 1 224 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 ATGGGGCTCTCTGCTCCTACA 0.582000 21 36 0 0 0.639603 0 0 CDKL5 6792 broad.mit.edu 37 X 18668577 18668577 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chrX:18668577G>A ENST00000379989.3 + 21 3130 c.2845G>A c.(2845-2847)Gtc>Atc p.V949I RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.V949I NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 949 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) CACTCCGTGCGTCCCAAACCG 0.582000 23 59 0 0 0.654019 0 0 GOLGA1 2800 broad.mit.edu 37 9 127652667 127652667 + Splice_Site SNP C C A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr9:127652667C>A ENST00000373555.4 - 16 1831 c.e16+1 NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 ACAGGGCCCACCTGTTGCTGG 0.597000 4 57 0.00909568 0.00932166 0.150653 1 0 HIST1H2AH 85235 broad.mit.edu 37 6 27115271 27115271 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:27115271G>A ENST00000377459.1 + 1 411 c.364G>A c.(364-366)Gag>Aag p.E122K NM_080596.1 NP_542163.1 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 122 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1) 12 TAAGAAGACTGAGAGCCACCA 0.522000 5 43 0 0 0.217242 0 0 PJA1 64219 broad.mit.edu 37 X 68381831 68381831 + Silent SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chrX:68381831A>C ENST00000361478.1 - 2 1628 c.1251T>G c.(1249-1251)ccT>ccG p.P417P PJA1_ENST00000374571.4_Silent_p.P362P|PJA1_ENST00000374583.1_Silent_p.P417P|PJA1_ENST00000374584.3_Silent_p.P229P NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 417 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 CACCGGGGCCAGGGCTGGTGC 0.622000 8 55 0 0 0.335167 0 0 ATRNL1 26033 broad.mit.edu 37 10 117704198 117704198 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr10:117704198A>G ENST00000355044.3 + 29 4174 c.4048A>G c.(4048-4050)Att>Gtt p.I1350V ATRNL1_ENST00000423111.2_Missense_Mutation_p.I401V|ATRNL1_ENST00000303745.7_Missense_Mutation_p.I143V NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1350 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CCTAATAGATATTTCACAACA 0.423000 22 49 0 0 0.608945 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156431 70156431 + Silent SNP T T A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:70156431T>A ENST00000335568.5 + 5 1214 c.1212T>A c.(1210-1212)gcT>gcA p.A404A UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 404 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATAACATTGCTCACATGAAGG 0.453000 21 129 0 0 0.769981 0 0 GP5 2814 broad.mit.edu 37 3 194118839 194118839 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr3:194118839A>T ENST00000401815.1 - 1 244 c.173T>A c.(172-174)tTc>tAc p.F58Y GP5_ENST00000323007.3_Missense_Mutation_p.F58Y P40197 GPV_HUMAN glycoprotein V (platelet) 58 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GCCCATTCCGAAGAGCAGGAT 0.677000 46 73 0 0 0.870114 0 0 ADCYAP1 116 broad.mit.edu 37 18 909585 909585 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr18:909585G>C ENST00000579794.1 + 4 758 c.480G>C c.(478-480)aaG>aaC p.K160N ADCYAP1_ENST00000450565.3_Missense_Mutation_p.K160N NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 160 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 TCCTAGGGAAGAGGTATAAAC 0.507000 13 194 0 0 0.435327 0 0 PRDM10 56980 broad.mit.edu 37 11 129827743 129827743 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr11:129827743G>A ENST00000358825.5 - 3 363 c.132C>T c.(130-132)cgC>cgT p.R44R PRDM10_ENST00000360871.3_Silent_p.R44R|PRDM10_ENST00000528746.1_Silent_p.R44R NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 44 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) GCTGTGGGGGGCGAACCTGGT 0.537000 51 182 0 0 0.870114 0 0 HERC4 26091 broad.mit.edu 37 10 69748547 69748547 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr10:69748547A>G ENST00000395198.3 - 15 1926 c.1679T>C c.(1678-1680)gTa>gCa p.V560A HERC4_ENST00000412272.2_Missense_Mutation_p.V560A|HERC4_ENST00000373700.4_Missense_Mutation_p.V560A|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.V450A NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 560 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 AAAAAGTTCTACTATCTTGAG 0.318000 7 198 0 0 0.307466 0 0 HRC 3270 broad.mit.edu 37 19 49657913 49657913 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr19:49657913C>T ENST00000252825.4 - 1 768 c.582G>A c.(580-582)gaG>gaA p.E194E HRC_ENST00000595625.1_Silent_p.E194E NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 194 4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic). muscle contraction sarcoplasmic reticulum lumen calcium ion binding p.E194E(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) cctcctcctcctcttcTCCTT 0.557000 4 56 0 0 0.184627 0 0 CTIF 9811 broad.mit.edu 37 18 46238063 46238063 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr18:46238063G>A ENST00000256413.3 + 7 876 c.581G>A c.(580-582)cGa>cAa p.R194Q CTIF_ENST00000382998.4_Missense_Mutation_p.R194Q NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 194 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 AGAAATGATCGAAGGTAGGAG 0.547000 OREG0024973 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 71 0 0 0.769981 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257171 9257171 + Silent SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr18:9257171A>G ENST00000383440.2 + 8 4094 c.3837A>G c.(3835-3837)agA>agG p.R1279R ANKRD12_ENST00000400020.3_Silent_p.R1279R|ANKRD12_ENST00000262126.3_Silent_p.R1302R NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1302 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GCGAGGGGAGACCTACCATAG 0.398000 50 70 0 0 0.870114 0 0 TMEM56 148534 broad.mit.edu 37 1 95615767 95615767 + Silent SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:95615767T>G ENST00000370203.4 + 4 540 c.249T>G c.(247-249)ggT>ggG p.G83G RP11-57H12.6_ENST00000604534.1_Silent_p.G83G|TMEM56_ENST00000463375.1_3'UTR NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 83 TLC. integral to membrane p.G83G(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) TTTTCAGGGGTGGTCCATCAC 0.323000 8 39 0 0 0.457914 0 0 DNA2 1763 broad.mit.edu 37 10 70204742 70204742 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr10:70204742T>C ENST00000399180.2 - 8 1413 c.1414A>G c.(1414-1416)Ata>Gta p.I472V DNA2_ENST00000399179.2_Missense_Mutation_p.I386V|DNA2_ENST00000358410.3_Missense_Mutation_p.I386V P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 386 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 TCCTCAATTATTTGTGGCAAA 0.343000 20 44 0 0 0.557998 0 0 GON4L 54856 broad.mit.edu 37 1 155736338 155736338 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:155736338C>T ENST00000437809.1 - 21 3048 c.2926G>A c.(2926-2928)Ggt>Agt p.G976S GON4L_ENST00000368331.1_Missense_Mutation_p.G976S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.G976S|GON4L_ENST00000271883.5_Missense_Mutation_p.G976S Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 976 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AGGACTACACCCTTAGGCAAT 0.498000 19 66 0 0 0.557998 0 0 UGDH 7358 broad.mit.edu 37 4 39512453 39512453 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:39512453A>G ENST00000316423.6 - 4 635 c.293T>C c.(292-294)aTg>aCg p.M98T UGDH_ENST00000507089.1_Start_Codon_SNP_p.M1T|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.M98T|UGDH_ENST00000515398.1_5'UTR NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 98 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) GCCTTTCCCCATTCCATAGGT 0.413000 20 67 0 0 0.592651 0 0 HERPUD1 9709 broad.mit.edu 37 16 56974084 56974084 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr16:56974084C>T ENST00000439977.2 + 6 1029 c.832C>T c.(832-834)Ctc>Ttc p.L278F HERPUD1_ENST00000300302.5_Missense_Mutation_p.L277F|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000379792.2_Missense_Mutation_p.L253F|HERPUD1_ENST00000570273.1_Intron NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 278 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 TTCTGTTTTTCTCAGTATCCT 0.433000 T ERG prostate 81 70 0 0 0.870114 0 0 TTC39B 158219 broad.mit.edu 37 9 15185309 15185309 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr9:15185309G>A ENST00000355694.2 - 16 1619 c.1385C>T c.(1384-1386)cCt>cTt p.P462L TTC39B_ENST00000507993.1_Missense_Mutation_p.P363L|TTC39B_ENST00000297615.5_Missense_Mutation_p.P459L|TTC39B_ENST00000380850.4_Missense_Mutation_p.P515L|TTC39B_ENST00000512701.1_Missense_Mutation_p.P528L|TTC39B_ENST00000507285.1_Missense_Mutation_p.P363L NM_001168339.1|NM_152574.2 NP_001161811.1|NP_689787.2 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 462 binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 CACAGGTGCAGGTAAGGAGGC 0.473000 43 102 0 0 0.840704 0 0 CDH3 1001 broad.mit.edu 37 16 68712178 68712178 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr16:68712178C>G ENST00000264012.4 + 4 932 c.388C>G c.(388-390)Cag>Gag p.Q130E CDH3_ENST00000581171.1_Missense_Mutation_p.Q75E|CDH3_ENST00000429102.2_Missense_Mutation_p.Q130E NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 130 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) GAGACTGAATCAGGTACGACT 0.527000 9 34 0 0 0.335167 0 0 CSRP3 8048 broad.mit.edu 37 11 19209725 19209725 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr11:19209725A>T ENST00000533783.1 - 4 479 c.239T>A c.(238-240)cTc>cAc p.L80H CSRP3_ENST00000265968.3_Missense_Mutation_p.L80H NM_003476.4 NP_003467.1 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 (cardiac LIM protein) 80 cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 GTCTGTGCTGAGACAGCCAGC 0.567000 18 97 0 0 0.520397 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156462 70156462 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:70156462C>T ENST00000335568.5 + 5 1245 c.1243C>T c.(1243-1245)Ctg>Ttg p.L415L UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 415 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AGCTGTTAGACTGGACTTCCA 0.443000 12 138 0 0 0.681144 0 0 LRRK2 120892 broad.mit.edu 37 12 40715964 40715964 + Silent SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr12:40715964A>T ENST00000298910.7 + 36 5356 c.5298A>T c.(5296-5298)acA>acT p.T1766T NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1766 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TAAAAATTACAGTTCCTTCTT 0.303000 9 35 0 0 0.307466 0 0 RBM42 79171 broad.mit.edu 37 19 36124784 36124784 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr19:36124784G>A ENST00000262633.4 + 7 985 c.880G>A c.(880-882)Gag>Aag p.E294K RBM42_ENST00000588161.1_Missense_Mutation_p.E264K|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Missense_Mutation_p.E272K|RBM42_ENST00000592202.1_Missense_Mutation_p.E240K|RBM42_ENST00000360475.4_Missense_Mutation_p.E265K|RBM42_ENST00000589559.1_Missense_Mutation_p.E265K NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 294 Necessary for interaction with HNRNPK (By similarity).|Pro-rich. cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCCATTGCCCGAGCCTGAGCC 0.746000 4 8 0 0 0.217242 0 0 HR 55806 broad.mit.edu 37 8 21986633 21986633 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr8:21986633C>T ENST00000381418.4 - 2 1531 c.51G>A c.(49-51)acG>acA p.T17T HR_ENST00000312841.8_Silent_p.T17T NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 17 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TCTCTGGGGCCGTCTTCTCCC 0.652000 4 78 0 0 0.150653 0 0 COL5A1 1289 broad.mit.edu 37 9 137620520 137620520 + Missense_Mutation SNP C C T rs148548209 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr9:137620520C>T ENST00000371817.3 + 6 1205 c.791C>T c.(790-792)aCg>aTg p.T264M NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 264 Nonhelical 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) TTTCAGTACACGGAAGGAGAC 0.612000 46 173 0 0 0.870114 0 0 MTOR 2475 broad.mit.edu 37 1 11297982 11297982 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:11297982T>C ENST00000361445.4 - 13 2202 c.2126A>G c.(2125-2127)gAg>gGg p.E709G NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 709 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GATGGCCAGCTCCCGGATCTC 0.582000 12 33 0 0 0.411799 0 0 DCST1 149095 broad.mit.edu 37 1 155018958 155018958 + Missense_Mutation SNP C C A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:155018958C>A ENST00000295542.1 + 13 1587 c.1491C>A c.(1489-1491)ttC>ttA p.F497L DCST1_ENST00000392480.1_Missense_Mutation_p.F497L|DCST1_ENST00000368419.2_Missense_Mutation_p.F497L|DCST1_ENST00000423025.2_Missense_Mutation_p.F472L NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 497 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 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) AGTACTCCTTCCGCAGTAAGC 0.582000 10 36 0.010729 0.0109277 0.387290 1 0 PRAMEF16 654348 broad.mit.edu 37 1 13497673 13497673 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:13497673G>C ENST00000376121.3 + 3 1000 c.970G>C c.(970-972)Gag>Cag p.E324Q NM_001045480.1 NP_001038945.1 Q5VWM1 PRA16_HUMAN PRAME family member 16 324 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGCTAAAGGAGCTGCATCT 0.473000 10 93 0 0 0.769981 0 0 CADM2 253559 broad.mit.edu 37 3 86114798 86114798 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr3:86114798C>T ENST00000383699.3 + 9 1641 c.1014C>T c.(1012-1014)ctC>ctT p.L338L CADM2_ENST00000405615.2_Silent_p.L371L|CADM2_ENST00000407528.2_Silent_p.L369L NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 369 Thr-rich. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ACCATGCTCTCATAGGAGGAA 0.403000 6 18 0 0 0.248553 0 0 IL24 11009 broad.mit.edu 37 1 207072852 207072852 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:207072852G>A ENST00000367093.3 + 3 509 c.235G>A c.(235-237)Gac>Aac p.D79N IL24_ENST00000391929.3_Missense_Mutation_p.D79N|IL24_ENST00000294984.2_Missense_Mutation_p.D78N|IL24_ENST00000491169.1_Intron NM_001185157.1|NM_001185158.1 NP_001172086.1|NP_001172087.1 Q13007 IL24_HUMAN interleukin 24 78 apoptosis extracellular space cytokine activity endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(84;0.201) GGCTGTGAAAGACACTATGGT 0.572000 15 56 0 0 0.457914 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597369 136597369 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:136597369C>T ENST00000531224.1 - 5 1546 c.1294G>A c.(1294-1296)Gag>Aag p.E432K BCLAF1_ENST00000392348.2_Missense_Mutation_p.E430K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E430K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E432K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E430K|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 432 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) CCTTCCTCCTCAGTATTCCGG 0.413000 13 218 0 0 0.457914 0 0 PQLC2 54896 broad.mit.edu 37 1 19653876 19653876 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:19653876C>T ENST00000375153.3 + 7 1414 c.774C>T c.(772-774)ggC>ggT p.G258G PQLC2_ENST00000400548.2_Silent_p.G193G|PQLC2_ENST00000375155.3_Silent_p.G258G NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 258 integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCTTGTGGGCAGCCTGGGCG 0.652000 8 32 0 0 0.278610 0 0 MIB1 57534 broad.mit.edu 37 18 19424087 19424087 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr18:19424087A>T ENST00000261537.6 + 15 2348 c.2084A>T c.(2083-2085)cAg>cTg p.Q695L MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 695 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) CTTGATATTCAGGATAAGGAT 0.433000 7 63 0 0 0.278610 0 0 RRH 10692 broad.mit.edu 37 4 110758732 110758732 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:110758732G>T ENST00000317735.4 + 5 725 c.691G>T c.(691-693)Gac>Tac p.D231Y NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 231 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) CCTCAACAGAGACTGGTCAGA 0.403000 7 23 0.000157383 0.000164356 0.278610 1 0 CCDC60 160777 broad.mit.edu 37 12 119917004 119917004 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr12:119917004C>G ENST00000327554.2 + 4 912 c.447C>G c.(445-447)caC>caG p.H149Q CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 149 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CCGAGGCTCACGTGTAAGTAG 0.478000 5 28 0 0 0.217242 0 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 5 97 0 0 0.184627 0 0 ITGA7 3679 broad.mit.edu 37 12 56091493 56091493 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr12:56091493G>A ENST00000257880.7 - 10 1746 c.1527C>T c.(1525-1527)acC>acT p.T509T ITGA7_ENST00000555728.1_Silent_p.T509T|ITGA7_ENST00000452168.2_Silent_p.T372T|ITGA7_ENST00000553804.1_Silent_p.T469T|ITGA7_ENST00000394230.2_Silent_p.T469T|ITGA7_ENST00000347027.6_Silent_p.T465T|ITGA7_ENST00000394229.2_Silent_p.T465T|ITGA7_ENST00000257879.6_Silent_p.T465T Q13683 ITA7_HUMAN integrin, alpha 7 509 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AGAGCACTGCGGTGTCAGCCA 0.597000 19 53 0 0 0.575678 0 0 ST5 6764 broad.mit.edu 37 11 8728695 8728695 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr11:8728695C>T ENST00000534127.1 - 16 2893 c.2508G>A c.(2506-2508)tcG>tcA p.S836S ST5_ENST00000534278.1_Silent_p.S27S|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Silent_p.S308S|ST5_ENST00000526099.1_Silent_p.S349S|ST5_ENST00000526757.1_Silent_p.S416S|ST5_ENST00000357665.1_Silent_p.S836S|ST5_ENST00000313726.6_Silent_p.S836S|ST5_ENST00000530438.1_Silent_p.S416S NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 836 DENN. positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CTGGGAAGGGCGACTCCATGA 0.592000 11 33 0 0 0.361761 0 0 CCDC80 151887 broad.mit.edu 37 3 112324383 112324383 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr3:112324383G>A ENST00000206423.3 - 8 3687 c.2734C>T c.(2734-2736)Cgc>Tgc p.R912C CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 912 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 TCTGGGCAGCGCATCCCCAGT 0.473000 3 38 0 0 0.115264 0 0 SYNE1 23345 broad.mit.edu 37 6 152694261 152694261 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:152694261C>T ENST00000367255.5 - 59 10019 c.9418G>A c.(9418-9420)Gcg>Acg p.A3140T SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3140 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCCCTTTCGCTTTCTCTTTG 0.393000 HNSCC(10;0.0054) 29 118 0 0 0.729181 0 0 TCERG1 10915 broad.mit.edu 37 5 145878147 145878147 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr5:145878147C>G ENST00000296702.5 + 16 2318 c.2280C>G c.(2278-2280)ttC>ttG p.F760L TCERG1_ENST00000394421.2_Missense_Mutation_p.F739L NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 760 FF 2. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTCAAGATTCAAAGCAATTG 0.388000 16 43 0 0 0.539581 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156461 70156461 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:70156461A>T ENST00000335568.5 + 5 1244 c.1242A>T c.(1240-1242)agA>agT p.R414S UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 414 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CAGCTGTTAGACTGGACTTCC 0.443000 12 132 0 0 0.681144 0 0 DLG5 9231 broad.mit.edu 37 10 79569435 79569435 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr10:79569435T>C ENST00000372391.2 - 24 4522 c.4517A>G c.(4516-4518)aAa>aGa p.K1506R DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.K1166R NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1506 PDZ 4. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTGGGACTTTTTGATGAAGAC 0.542000 70 162 0 0 0.870114 0 0 FAM161A 84140 broad.mit.edu 37 2 62067206 62067206 + Missense_Mutation SNP C C A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr2:62067206C>A ENST00000404929.1 - 3 944 c.933G>T c.(931-933)aaG>aaT p.K311N FAM161A_ENST00000405894.3_Missense_Mutation_p.K311N NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 311 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGCTTTTCTCCTTCAGAGACC 0.443000 17 132 4.96729e-08 5.25386e-08 0.575678 1 0 SPRY2 10253 broad.mit.edu 37 13 80911560 80911560 + Missense_Mutation SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr13:80911560A>C ENST00000377102.1 - 2 1258 c.281T>G c.(280-282)cTc>cGc p.L94R SPRY2_ENST00000377104.3_Missense_Mutation_p.L94R|SPRY2_ENST00000540649.1_Missense_Mutation_p.L94R O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 94 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) CGAGTGCTGGAGCCTAGGAGG 0.622000 17 62 0 0 0.539581 0 0 FAM172A 83989 broad.mit.edu 37 5 93294538 93294538 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr5:93294538T>C ENST00000395965.3 - 6 653 c.511A>G c.(511-513)Ata>Gta p.I171V FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Missense_Mutation_p.I125V|FAM172A_ENST00000509739.1_Intron NM_032042.5 NP_114431.2 Q8WUF8 F172A_HUMAN family with sequence similarity 172, member A 171 endoplasmic reticulum|extracellular region endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 TCTTCATTTATAATAAGTCTT 0.388000 16 81 0 0 0.575678 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011580 46011580 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr21:46011580G>T ENST00000400368.1 - 1 806 c.786C>A c.(784-786)acC>acA p.T262T TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 262 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGGGGGAGGAGGTGCAGCAAG 0.652000 28 84 2.68265e-12 2.93137e-12 0.769981 1 0 OR6B2 389090 broad.mit.edu 37 2 240969562 240969562 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr2:240969562G>T ENST00000402971.2 - 1 344 c.285C>A c.(283-285)gtC>gtA p.V95V NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) TCATGCACCCGACGAAAGAGA 0.577000 8 46 1.76689e-08 1.8931e-08 0.335167 1 0 ABHD10 55347 broad.mit.edu 37 3 111697969 111697969 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr3:111697969G>T ENST00000273359.3 + 1 88 c.61G>T c.(61-63)Gca>Tca p.A21S ABHD10_ENST00000494817.1_Missense_Mutation_p.A21S|ABHD10_ENST00000534857.1_5'UTR NM_018394.2 NP_060864.1 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 21 mitochondrion serine-type peptidase activity large_intestine(2)|lung(7)|skin(1) 10 CTGGGGCTGGGCAGCCGTCCC 0.687000 6 31 0.00116845 0.00121254 0.217242 1 0 DLX1 1745 broad.mit.edu 37 2 172951395 172951395 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr2:172951395G>A ENST00000361725.4 + 2 779 c.327G>A c.(325-327)gaG>gaA p.E109E DLX1_ENST00000341900.6_Intron NM_178120.4 NP_835221.2 P56177 DLX1_HUMAN distal-less homeobox 1 109 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|lung(4)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.216) CGGACTCGGAGAAGAGCACGG 0.567000 21 90 0 0 0.608945 0 0 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G T rs28934874 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr17:7578479G>T ENST00000420246.2 - 5 583 c.451C>A c.(451-453)Ccc>Acc p.P151T TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000445888.2_Missense_Mutation_p.P151T|TP53_ENST00000269305.4_Missense_Mutation_p.P151T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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) CCGGGCGGGGGTGTGGAATCA 0.612000 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) 25 33 3.65163e-15 4.07107e-15 0.706142 1 0 NPY 4852 broad.mit.edu 37 7 24324986 24324986 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr7:24324986G>A ENST00000407573.1 + 3 417 c.127G>A c.(127-129)Gag>Aag p.E43K NPY_ENST00000405982.1_Missense_Mutation_p.E43K|NPY_ENST00000242152.2_Missense_Mutation_p.E43K P01303 NPY_HUMAN neuropeptide Y 43 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 CGCACCAGCGGAGGACATGGC 0.682000 7 27 0 0 0.248553 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156926233 156926233 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:156926233C>T ENST00000368194.3 - 19 2689 c.1650G>A c.(1648-1650)ccG>ccA p.P550P ARHGEF11_ENST00000361409.2_Silent_p.P510P NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 510 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) TAGGGAAGAACGGTAGCCACT 0.552000 21 86 0 0 0.592651 0 0 DCAF13 25879 broad.mit.edu 37 8 104453792 104453792 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr8:104453792C>G ENST00000297579.5 + 10 1929 c.1652C>G c.(1651-1653)tCt>tGt p.S551C NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 399 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CTACCAAAATCTATCTATAGC 0.393000 26 112 0 0 0.706142 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44507028 44507028 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr20:44507028G>A ENST00000255152.2 + 2 2040 c.1831G>A c.(1831-1833)Gag>Aag p.E611K ZSWIM3_ENST00000454862.2_Missense_Mutation_p.E605K NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 611 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) AGGCCAGCCTGAGAAGCAAGG 0.587000 18 80 0 0 0.557998 0 0 CASP8 841 broad.mit.edu 37 2 202131498 202131498 + Nonsense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr2:202131498C>T ENST00000358485.4 + 2 662 c.466C>T c.(466-468)Caa>Taa p.Q156* CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q97*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q97*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q97* NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 97 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AGGCAGGGCTCAAATTTCTGC 0.488000 HNSCC(4;0.00038) 5 18 0 0 0.184627 0 0 CD1E 913 broad.mit.edu 37 1 158326543 158326543 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:158326543C>T ENST00000444681.2 + 5 1020 c.727C>T c.(727-729)Cac>Tac p.H243Y CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.H342Y|CD1E_ENST00000368154.1_Missense_Mutation_p.H98Y|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.H252Y|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.H153Y NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 342 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TCTTTCTCCCCACACACCCAG 0.413000 9 50 0 0 0.335167 0 0 EVI5L 115704 broad.mit.edu 37 19 7916349 7916349 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr19:7916349C>T ENST00000270530.4 + 7 979 c.783C>T c.(781-783)ttC>ttT p.F261F EVI5L_ENST00000538904.2_Silent_p.F261F NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 261 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 ACACCCACTTCCGTTCCCAAA 0.647000 11 68 0 0 0.411799 0 0 FOXP1 27086 broad.mit.edu 37 3 71247175 71247175 + Nonsense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr3:71247175C>T ENST00000318779.3 - 7 700 c.225G>A c.(223-225)tgG>tgA p.W75* FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000493089.1_Intron NM_001012505.1 NP_001012523.1 Q9H334 FOXP1_HUMAN forkhead box P1 0 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GTCTCTTAAGCCAACTGCTGG 0.517000 T PAX5 ALL 11 31 0 0 0.361761 0 0 SLC12A9 56996 broad.mit.edu 37 7 100457855 100457855 + Splice_Site SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr7:100457855G>A ENST00000354161.3 + 9 1343 c.e9+1 SLC12A9_ENST00000415287.1_Splice_Site|SLC12A9_ENST00000275729.3_Splice_Site|SLC12A9_ENST00000428758.1_Splice_Site|SLC12A9_ENST00000475623.1_Splice_Site|SLC12A9_ENST00000540482.1_Splice_Site NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CCTGGTGCAGGTGAGCCTTCT 0.562000 8 26 0 0 0.278610 0 0 SLC47A2 146802 broad.mit.edu 37 17 19605988 19605988 + Splice_Site SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr17:19605988C>G ENST00000350657.5 - 14 1311 c.e14-1 SLC47A2_ENST00000463318.1_Splice_Site|SLC47A2_ENST00000325411.5_Splice_Site NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) AATGACATCTCTGCAGAAGAA 0.453000 6 13 0 0 0.217242 0 0 ZNF320 162967 broad.mit.edu 37 19 53384668 53384668 + Missense_Mutation SNP T T A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr19:53384668T>A ENST00000595635.1 - 8 1212 c.711A>T c.(709-711)agA>agT p.R237S ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R237S|ZNF320_ENST00000600930.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) CAGTATGACTTCTATGATGAC 0.398000 10 66 0 0 0.361761 0 0 XIST 7503 broad.mit.edu 37 X 73062364 73062364 + RNA SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chrX:73062364A>G ENST00000429829.1 - 0 10224 NR_001564.2 TTATCCACCTAGTTCAGGCCT 0.423000 3 27 0 0 0.150653 0 0 NUMA1 4926 broad.mit.edu 37 11 71717271 71717271 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr11:71717271C>T ENST00000393695.3 - 22 5833 c.5502G>A c.(5500-5502)tcG>tcA p.S1834S NUMA1_ENST00000351960.6_Silent_p.S698S|NUMA1_ENST00000358965.6_Silent_p.S1820S NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1834 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TGCTGTAGAACGATGAGTTGG 0.552000 T RARA APL 6 56 0 0 0.248553 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117959641 117959641 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chrX:117959641C>T ENST00000310164.2 + 4 941 c.434C>T c.(433-435)gCc>gTc p.A145V NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 ggggagaaagcctccctttat 0.483000 35 110 0 0 0.788014 0 0 CHURC1 91612 broad.mit.edu 37 14 65390788 65390788 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr14:65390788T>C ENST00000607599.1 + 2 254 c.200T>C c.(199-201)cTg>cCg p.L67P CHURC1_ENST00000552002.2_Missense_Mutation_p.L40P|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.L40P|CHURC1_ENST00000359118.2_Missense_Mutation_p.L40P|CHURC1_ENST00000549115.1_Missense_Mutation_p.L67P|CHURC1_ENST00000548752.2_Missense_Mutation_p.L67P|CHURC1-FNTB_ENST00000542227.1_5'UTR NM_001204063.1|NM_145165.3 NP_001190992.1|NP_660148.3 churchill domain containing 1 breast(1)|pancreas(1) 2 all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976) GATTTTATGCTGATCACAAAC 0.383000 14 63 0 0 0.500413 0 0 CEP44 80817 broad.mit.edu 37 4 175232005 175232005 + Missense_Mutation SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:175232005T>G ENST00000503780.1 + 9 1371 c.957T>G c.(955-957)aaT>aaG p.N319K CEP44_ENST00000426172.1_Missense_Mutation_p.N319K|CEP44_ENST00000457424.2_Missense_Mutation_p.N319K|CEP44_ENST00000296519.4_Missense_Mutation_p.N319K NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 319 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 ACCTTCTGAATCCTCGTAAGT 0.274000 22 65 0 0 0.624587 0 0 THSD7A 221981 broad.mit.edu 37 7 11630197 11630197 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr7:11630197C>T ENST00000423059.3 - 4 1594 c.1343G>A c.(1342-1344)cGc>cAc p.R448H NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 448 TSP type-1 4. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTGGTTGCCGCGCCTCTTGTC 0.557000 HNSCC(18;0.044) 9 29 0 0 0.307466 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188217 140188217 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr5:140188217C>T ENST00000530339.1 + 1 1445 c.1445C>T c.(1444-1446)gCg>gTg p.A482V PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A482V|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A482V NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGGACGCGGACGCGCAG 0.657000 16 59 0 0 0.575678 0 0 SMTN 6525 broad.mit.edu 37 22 31492832 31492832 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr22:31492832G>A ENST00000333137.7 + 14 2193 c.1975G>A c.(1975-1977)Gat>Aat p.D659N SMTN_ENST00000358743.1_Missense_Mutation_p.D659N|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000347557.2_Missense_Mutation_p.D659N NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 659 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCGGGCAGCTGATGGCTCTGC 0.687000 19 55 0 0 0.639603 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661382 77661382 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:77661382G>A ENST00000296043.6 + 5 3009 c.2056G>A c.(2056-2058)Gag>Aag p.E686K NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 686 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGGAACCCAGGAGGGTTACCC 0.607000 53 72 0 0 0.870114 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 3 26 0 0 0.115264 0 0 KIAA1919 91749 broad.mit.edu 37 6 111587430 111587430 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:111587430G>A ENST00000368847.4 + 4 1018 c.665G>A c.(664-666)cGa>cAa p.R222Q NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 222 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GAGACATTTCGAAGAGCAAAA 0.343000 13 32 0 0 0.411799 0 0 PLOD3 8985 broad.mit.edu 37 7 100859997 100859997 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr7:100859997C>T ENST00000223127.3 - 2 578 c.180G>A c.(178-180)gaG>gaA p.E60E NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 60 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) AGTTGAAGAACTCCGCAGAGC 0.607000 7 30 0 0 0.307466 0 0 VCAN 1462 broad.mit.edu 37 5 82817939 82817939 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr5:82817939G>A ENST00000265077.3 + 7 4379 c.3814G>A c.(3814-3816)Gaa>Aaa p.E1272K VCAN_ENST00000342785.4_Missense_Mutation_p.E1272K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1224K NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1272 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAAGGAAACAGAAACCGATAT 0.453000 10 68 0 0 0.335167 0 0 TKTL2 84076 broad.mit.edu 37 4 164394114 164394114 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:164394114G>T ENST00000280605.3 - 1 933 c.773C>A c.(772-774)gCa>gAa p.A258E NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 258 cytoplasm metal ion binding|transketolase activity p.A258V(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCAATTTTCTGCATCCTCAAT 0.408000 24 93 5.61819e-17 6.30613e-17 0.693898 1 0 IRS4 8471 broad.mit.edu 37 X 107979062 107979062 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chrX:107979062G>A ENST00000372129.2 - 1 589 c.513C>T c.(511-513)ttC>ttT p.F171F NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 171 PH. 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 CGTCTTGGGTGAAAAGAGCAA 0.597000 7 55 0 0 0.248553 0 0 COL5A1 1289 broad.mit.edu 37 9 137716559 137716559 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr9:137716559C>T ENST00000371817.3 + 62 5226 c.4812C>T c.(4810-4812)taC>taT p.Y1604Y NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1604 Nonhelical 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) ACGTGGACTACGCGGACGGCA 0.622000 12 29 0 0 0.435327 0 0 MCF2 4168 broad.mit.edu 37 X 138724625 138724625 + Splice_Site SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chrX:138724625A>T ENST00000370576.4 - 1 261 c.e1+1 MCF2_ENST00000370578.4_Intron|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000338585.6_Splice_Site|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000370573.4_Splice_Site|MCF2_ENST00000536274.1_Splice_Site NM_001171879.1|NM_005369.4 NP_001165350.1|NP_005360.3 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CAGAGCCCTTACCGCATTCCT 0.488000 32 154 0 0 0.769981 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 3 37 0 0 0.184627 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 5 14 0 0 0.217242 0 0 ROS1 6098 broad.mit.edu 37 6 117687343 117687343 + Missense_Mutation SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:117687343A>C ENST00000368508.3 - 18 2906 c.2708T>G c.(2707-2709)aTt>aGt p.I903S ROS1_ENST00000368507.3_Missense_Mutation_p.I898S|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 903 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGTTGTGATAATCCTAAAGCC 0.423000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 16 106 0 0 0.520397 0 0 NUDT12 83594 broad.mit.edu 37 5 102894926 102894926 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr5:102894926A>T ENST00000230792.2 - 3 546 c.450T>A c.(448-450)ttT>ttA p.F150L NUDT12_ENST00000507423.1_Missense_Mutation_p.F132L NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 150 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) AGAAAAGAATAAAAACTGTGG 0.378000 8 42 0 0 0.307466 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2867251 2867251 + Silent SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr17:2867251G>C ENST00000254695.8 + 7 471 c.381G>C c.(379-381)ggG>ggC p.G127G RAP1GAP2_ENST00000366401.4_Silent_p.G112G|RAP1GAP2_ENST00000542807.1_Silent_p.G127G|CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000540393.2_Silent_p.G108G NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 127 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CATCGCTGGGGAGCAGCATCT 0.602000 11 35 0 0 0.361761 0 0 SON 6651 broad.mit.edu 37 21 34932318 34932318 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr21:34932318G>A ENST00000300278.4 + 7 6822 c.6793G>A c.(6793-6795)Gtt>Att p.V2265I SON_ENST00000381692.2_Intron|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000356577.4_Intron|SON_ENST00000290239.6_Intron NM_032195.1 NP_115571.1 P18583 SON_HUMAN SON DNA binding protein 0 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 AGAGAACAGTGTTATCACATC 0.458000 17 31 0 0 0.557998 0 0 ZNF107 51427 broad.mit.edu 37 7 64167053 64167053 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr7:64167053G>A ENST00000395391.1 + 4 1746 c.371G>A c.(370-372)aGa>aAa p.R124K ZNF107_ENST00000423627.1_Missense_Mutation_p.R124K|ZNF107_ENST00000344930.3_Missense_Mutation_p.R124K Q9UII5 ZN107_HUMAN zinc finger protein 107 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R124I(1) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CAGCATAGAAGAATTCATACT 0.328000 6 27 0 0 0.248553 0 0 EMC2 9694 broad.mit.edu 37 8 109465334 109465334 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr8:109465334G>C ENST00000220853.3 + 4 298 c.263G>C c.(262-264)aGa>aCa p.R88T NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 GGCAGTCACAGAGTCAAGCGA 0.398000 5 38 0 0 0.307466 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558908 140558908 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr5:140558908G>C ENST00000239444.2 + 1 1538 c.1293G>C c.(1291-1293)agG>agC p.R431S NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 431 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACACCCAGGCTGACAACAC 0.532000 19 69 0 0 0.539581 0 0 DOCK11 139818 broad.mit.edu 37 X 117775197 117775197 + Nonsense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chrX:117775197G>T ENST00000276204.6 + 39 4263 c.4189G>T c.(4189-4191)Gaa>Taa p.E1397* DOCK11_ENST00000276202.7_Nonsense_Mutation_p.E1397* Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1397 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 GGCACTTCTTGAAGGCAATAC 0.368000 20 62 1.1804e-14 1.29844e-14 0.667858 1 0 ARID5B 84159 broad.mit.edu 37 10 63661489 63661489 + Splice_Site SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr10:63661489G>A ENST00000279873.7 + 1 431 c.21_splice c.e1+1 p.Q7_splice NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 7 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) ACTCACTCCAGGTATTTCGCT 0.587000 7 32 0 0 0.278610 0 0 ALKBH3 221120 broad.mit.edu 37 11 43923092 43923092 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr11:43923092G>C ENST00000302708.4 + 8 897 c.486G>C c.(484-486)aaG>aaC p.K162N ALKBH3_ENST00000532410.1_Intron NM_139178.3 NP_631917.1 Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) 162 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) GCACACTAAAGAACCGCATTG 0.488000 Direct reversal of damage 11 32 0 0 0.411799 0 0 VARS 7407 broad.mit.edu 37 6 31749380 31749380 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:31749380C>T ENST00000375663.3 - 21 2862 c.2422G>A c.(2422-2424)Gaa>Aaa p.E808K VARS_ENST00000482996.1_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 808 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CTCAGGTCTTCTGACTGAGGG 0.637000 13 40 0 0 0.435327 0 0 DACH1 1602 broad.mit.edu 37 13 72440352 72440352 + Nonsense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr13:72440352G>A ENST00000305425.4 - 1 978 c.556C>T c.(556-558)Cag>Tag p.Q186* DACH1_ENST00000359684.2_Nonsense_Mutation_p.Q186*|DACH1_ENST00000313174.7_Nonsense_Mutation_p.Q186*|DACH1_ENST00000354591.4_Nonsense_Mutation_p.Q186* NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 184 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TCATTATTCTGAGGGGTGTTT 0.607000 7 21 0 0 0.248553 0 0 DNAH10 196385 broad.mit.edu 37 12 124371815 124371815 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr12:124371815G>A ENST00000409039.3 + 51 8621 c.8596G>A c.(8596-8598)Gct>Act p.A2866T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2866 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGCCCATGTGGCTGAGGAGGG 0.542000 6 30 0 0 0.248553 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 10 4 0 0 0.387290 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 3 38 0 0 0.115264 0 0 TFEB 7942 broad.mit.edu 37 6 41655657 41655657 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:41655657C>T ENST00000394283.1 - 5 1885 c.659G>A c.(658-660)cGa>cAa p.R220Q TFEB_ENST00000358871.2_Missense_Mutation_p.R234Q|TFEB_ENST00000230323.4_Missense_Mutation_p.R220Q|TFEB_ENST00000373033.1_Missense_Mutation_p.R220Q|TFEB_ENST00000420312.1_Missense_Mutation_p.R135Q|TFEB_ENST00000403298.4_Missense_Mutation_p.R220Q P19484 TFEB_HUMAN transcription factor EB 220 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) TGTGAGCTCTCGCTTCTGGGT 0.612000 T ALPHA renal (childhood epithelioid) 14 53 0 0 0.479597 0 0 USP31 57478 broad.mit.edu 37 16 23117549 23117549 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr16:23117549G>A ENST00000219689.7 - 4 937 c.938C>T c.(937-939)cCt>cTt p.P313L NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 313 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GTGGGGCAGAGGAATTGGCAA 0.388000 9 46 0 0 0.335167 0 0 ZNF527 84503 broad.mit.edu 37 19 37879538 37879538 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr19:37879538A>T ENST00000436120.2 + 5 694 c.587A>T c.(586-588)tAt>tTt p.Y196F ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTGATATTTATGATAAACTC 0.323000 7 68 0 0 0.307466 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728770 20728770 + Missense_Mutation SNP T T G rs61742876 by1000genomes TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr19:20728770T>G ENST00000427401.4 - 4 333 c.239A>C c.(238-240)cAt>cCt p.H80P NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 80 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TCGGGCAAAATGAGAACACGT 0.323000 4 19 0 0 0.184627 0 0 FAM192A 80011 broad.mit.edu 37 16 57188404 57188404 + Missense_Mutation SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr16:57188404T>G ENST00000309137.8 - 7 821 c.563A>C c.(562-564)aAg>aCg p.K188T FAM192A_ENST00000567439.1_Missense_Mutation_p.K188T|FAM192A_ENST00000389447.5_Missense_Mutation_p.K188T|FAM192A_ENST00000566077.1_Missense_Mutation_p.K111T|FAM192A_ENST00000569266.1_Missense_Mutation_p.K188T|FAM192A_ENST00000564108.1_Missense_Mutation_p.K188T NM_024946.2 NP_079222.1 Q9GZU8 F192A_HUMAN family with sequence similarity 192, member A 188 nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 TCCGAGAGACTTGCAGGATGA 0.557000 8 35 0 0 0.307466 0 0 ATP10B 23120 broad.mit.edu 37 5 160063201 160063201 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr5:160063201G>T ENST00000327245.5 - 11 1962 c.1116C>A c.(1114-1116)atC>atA p.I372I CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 372 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAGCAGGATGATCATTGTGA 0.493000 10 48 3.86212e-05 4.05892e-05 0.361761 1 0 NFXL1 152518 broad.mit.edu 37 4 47898591 47898591 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr4:47898591G>A ENST00000507489.1 - 10 1454 c.1278C>T c.(1276-1278)atC>atT p.I426I NFXL1_ENST00000329043.3_Silent_p.I426I|NFXL1_ENST00000381538.3_Silent_p.I426I NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 426 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 AACATCTATGGATTCCGCATT 0.373000 7 38 0 0 0.307466 0 0 KIF3A 11127 broad.mit.edu 37 5 132069993 132069993 + Missense_Mutation SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr5:132069993T>G ENST00000378746.4 - 2 402 c.184A>C c.(184-186)Act>Cct p.T62P KIF3A_ENST00000403231.1_Missense_Mutation_p.T62P|KIF3A_ENST00000378735.1_Missense_Mutation_p.T62P NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 62 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTATCAAAAGTAAATGTCTTT 0.368000 38 126 0 0 0.796494 0 0 CYC1 1537 broad.mit.edu 37 8 145150852 145150852 + Silent SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr8:145150852G>C ENST00000318911.4 + 2 319 c.246G>C c.(244-246)gtG>gtC p.V82V NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 82 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATTCGGCTGTGAGTGCCAGTG 0.662000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 71 0 0 0.411799 0 0 GRID1 2894 broad.mit.edu 37 10 87615919 87615919 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr10:87615919A>G ENST00000327946.7 - 7 1065 c.980T>C c.(979-981)gTt>gCt p.V327A NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 327 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CAGCATCAGAACACTGTCATA 0.498000 Multiple Myeloma(13;0.14) 18 36 0 0 0.520397 0 0 TPST2 8459 broad.mit.edu 37 22 26932363 26932363 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr22:26932363C>T ENST00000338754.4 - 4 1202 c.932G>A c.(931-933)cGg>cAg p.R311Q TPST2_ENST00000403880.1_Missense_Mutation_p.R311Q|TPST2_ENST00000398110.2_Missense_Mutation_p.R311Q NM_003595.3 NP_003586.3 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 311 peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1)|large_intestine(1)|lung(5) 7 GGCCATGTCCCGCACCACATC 0.602000 5 26 0 0 0.184627 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672743 77672743 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr13:77672743T>C ENST00000407578.2 - 56 8812 c.8546A>G c.(8545-8547)aAt>aGt p.N2849S MYCBP2_ENST00000360084.5_Missense_Mutation_p.N334S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N2811S|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N2811S NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2811 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTGAGGTAGATTTTTATCATG 0.483000 22 56 0 0 0.639603 0 0 C19orf35 374872 broad.mit.edu 37 19 2276476 2276476 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr19:2276476C>T ENST00000342063.3 - 4 718 c.625G>A c.(625-627)Ggg>Agg p.G209R NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 209 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTCCGCCCCGGGCTTGGGC 0.701000 5 11 0 0 0.217242 0 0 RABGGTB 5876 broad.mit.edu 37 1 76255009 76255009 + Frame_Shift_Del DEL C C - TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:76255009delC ENST00000319942.3 + 3 348 c.277delC c.(277-279)ctfs p.P93fs RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Frame_Shift_Del_p.P93fs NM_004582.2 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase, beta subunit 93 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1) 19 CGGACATGATCCTCATCTTTT 0.368 21 78 --- --- --- --- WHSC1 7468 broad.mit.edu 37 4 1957868 1957869 + Frame_Shift_Ins INS - - C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:1957868_1957869insC ENST00000382895.3 + 17 3265_3266 c.2834_2835insC c.(2833-2835)gagfs p.E945fs WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.E293fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.E945fs NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 945 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGGGACCGGGGCAGCCGCTACC 0.510 T IGH@ MM 20 177 --- --- --- --- SEMA4D 10507 broad.mit.edu 37 9 91978793 91978793 + Frame_Shift_Del DEL T T - TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:91978793delT ENST00000420987.1 - 18 2401 c.1955delA c.(1954-1956)ctfs p.H652fs SEMA4D_ENST00000339861.4_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000455551.2_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000420101.2_Frame_Shift_Del_p.H37fs|SEMA4D_ENST00000343780.4_Frame_Shift_Del_p.H652fs NM_001142287.1 NP_001135759.1 Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 0 anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GGGCAGTGCATGGGTCTGCAC 0.607 8 79 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139409935 139409936 + Splice_Site INS - - TG TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:139409935_139409936insTG ENST00000277541.6 - 11 1977_1978 c.1903_splice c.e11+1 p.T635_splice NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 635 EGF-like 16; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCGGCCACCTGTGGTCCCCT 0.698 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 14 41 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 31 19 --- --- --- --- RABGGTB 5876 broad.mit.edu 37 1 76255009 76255009 + Frame_Shift_Del DEL C C - TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr1:76255009delC ENST00000319942.3 + 3 348 c.277delC c.(277-279)ctfs p.P93fs RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Frame_Shift_Del_p.P93fs NM_004582.2 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase, beta subunit 93 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1) 19 CGGACATGATCCTCATCTTTT 0.368 21 78 --- --- --- --- TBP 6908 broad.mit.edu 37 6 170871038 170871040 + In_Frame_Del DEL CAA CAA - rs10592950 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr6:170871038_170871040delCAA ENST00000392092.2 + 3 493_495 c.214_216delCAA c.(214-216)del p.Q95del TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 95 Poly-Gln. Missing. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q72del(3) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) gcagcagcagcaacagcaacagc 0.567 18 17 --- --- --- --- SEMA4D 10507 broad.mit.edu 37 9 91978793 91978793 + Frame_Shift_Del DEL T T - TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr9:91978793delT ENST00000420987.1 - 18 2401 c.1955delA c.(1954-1956)ctfs p.H652fs SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000343780.4_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000420101.2_Frame_Shift_Del_p.H37fs|SEMA4D_ENST00000339861.4_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000455551.2_Frame_Shift_Del_p.H652fs NM_001142287.1 NP_001135759.1 Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 0 anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GGGCAGTGCATGGGTCTGCAC 0.607 8 79 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139409935 139409936 + Splice_Site INS - - TG TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr9:139409935_139409936insTG ENST00000277541.6 - 11 1977_1978 c.1903_splice c.e11+1 p.T635_splice NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 635 EGF-like 16; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCGGCCACCTGTGGTCCCCT 0.698 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 14 41 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 31 19 --- --- --- --- SLC22A11 55867 broad.mit.edu 37 11 64323714 64323715 + Frame_Shift_Ins INS - - C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr11:64323714_64323715insC ENST00000301891.4 + 1 617_618 c.243_244insC c.(241-246)ggcccafs p.GP81fs SLC22A11_ENST00000377585.3_Frame_Shift_Ins_p.GP81fs|SLC22A11_ENST00000377581.3_Frame_Shift_Ins_p.GP81fs|SLC22A11_ENST00000490834.1_3'UTR NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 81 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) CCAACCAGGGGCCCCACCAGTG 0.644 OREG0004031 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 143 --- --- --- --- DHX37 57647 broad.mit.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24ad5336-f5ee-49c0-a176-48411285fbe8 6ab7e029-9217-48a2-9c7f-dbc4c6963afa g.chr12:125465270_125465272delCTC ENST00000308736.2 - 4 600_602 c.502_504delGAG c.(502-504)del p.E168del NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 168 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.E168delE(3) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCGATTCCGActcctcctcctcc 0.690 2 4 --- --- --- ---