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 GRM7 2917 broad.mit.edu 37 3 7620568 7620568 + Nonsense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr3:7620568C>T ENST00000486284.1 + 8 2249 c.1975C>T c.(1975-1977)Cga>Tga p.R659* GRM7_ENST00000357716.4_Nonsense_Mutation_p.R659*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.R659*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.R659*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.R659*|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 659 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TTCTTTCCGGCGAGTTTTCTT 0.453000 27 92 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 906558 906558 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:906558G>A ENST00000379409.2 + 6 864 c.834G>A c.(832-834)tcG>tcA p.S278S PLEKHN1_ENST00000379407.2_Silent_p.S238S|PLEKHN1_ENST00000379410.3_Silent_p.S226S Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 278 PH 2. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) TCTGTGCCTCGAGGGTCAAGC 0.692000 8 4 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131487215 131487215 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:131487215C>A ENST00000309926.4 + 1 573 c.491C>A c.(490-492)gCt>gAt p.A164D NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 164 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) TCCCATGGGGCTGCCTGGAAG 0.602000 6 23 8.12818e-05 8.44282e-05 1 1 0 CHRDL1 91851 broad.mit.edu 37 X 109937530 109937530 + Silent SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chrX:109937530A>G ENST00000218054.4 - 8 832 c.636T>C c.(634-636)gaT>gaC p.D212D CHRDL1_ENST00000372045.1_Silent_p.D206D|CHRDL1_ENST00000444321.2_Silent_p.D212D|CHRDL1_ENST00000482160.1_Silent_p.D133D|CHRDL1_ENST00000434224.1_Silent_p.D133D|CHRDL1_ENST00000372042.1_Silent_p.D213D|CHRDL1_ENST00000394797.4_Silent_p.D212D NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 206 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 TTGGTGGAGGATCATAGTGAG 0.473000 24 46 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131848963 131848963 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr7:131848963C>T ENST00000359827.3 - 24 5400 c.4438G>A c.(4438-4440)Gag>Aag p.E1480K PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1480K Q9HCM2 PLXA4_HUMAN plexin A4 1480 integral to membrane|intracellular|plasma membrane p.E1480K(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TAGCGGGCCTCGCCCGTGATG 0.592000 4 28 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176934360 176934360 + Missense_Mutation SNP T T C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:176934360T>C ENST00000367654.2 - 9 1574 c.1561A>G c.(1561-1563)Aca>Gca p.T521A ASTN1_ENST00000424564.2_Missense_Mutation_p.T513A|ASTN1_ENST00000367657.3_Missense_Mutation_p.T513A|ASTN1_ENST00000361833.2_Missense_Mutation_p.T513A|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 521 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGAAATATTGTGTAAGGCCAT 0.418000 21 73 0 0 1 0 0 RRAD 6236 broad.mit.edu 37 16 66957606 66957606 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr16:66957606C>A ENST00000299759.6 - 4 712 c.462G>T c.(460-462)ttG>ttT p.L154F RRAD_ENST00000420652.1_Missense_Mutation_p.L154F P55042 RAD_HUMAN Ras-related associated with diabetes 154 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) AGTGGCCGGGCAACCAGCGGC 0.612000 18 81 2.94398e-08 3.15987e-08 1 1 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 4 47 0 0 1 0 0 TMEM50B 757 broad.mit.edu 37 21 34841096 34841096 + Silent SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr21:34841096A>G ENST00000542230.2 - 2 311 c.97T>C c.(97-99)Ttg>Ctg p.L33L NM_006134.6 NP_006125.2 P56557 TM50B_HUMAN transmembrane protein 50B 33 endoplasmic reticulum|integral to membrane|plasma membrane breast(1)|kidney(1)|ovary(1)|skin(1) 4 TCACTTACCAATATACCTGCG 0.423000 28 56 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6065882 6065882 + Missense_Mutation SNP T T C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr20:6065882T>C ENST00000217289.4 - 12 2212 c.1424A>G c.(1423-1425)aAa>aGa p.K475R FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.K218R NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 475 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TGCCATGGTTTTGCCCTTCGA 0.512000 19 102 0 0 1 0 0 XXYLT1 152002 broad.mit.edu 37 3 194947506 194947506 + Missense_Mutation SNP C C G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr3:194947506C>G ENST00000310380.6 - 2 692 c.584G>C c.(583-585)gGc>gCc p.G195A XXYLT1_ENST00000429994.1_Missense_Mutation_p.G49A NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 195 integral to membrane transferase activity, transferring glycosyl groups GGTTCCCAAGCCAGCACTGAA 0.532000 12 77 0 0 1 0 0 WNT3 7473 broad.mit.edu 37 17 44845707 44845707 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:44845707G>A ENST00000225512.5 - 4 1209 c.1047C>T c.(1045-1047)taC>taT p.Y349Y NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 349 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) TGTGCACGTCGTAGATGCGAA 0.617000 14 43 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8122379 8122379 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr11:8122379G>A ENST00000305253.4 + 12 1628 c.1387G>A c.(1387-1389)Gag>Aag p.E463K TUB_ENST00000299506.2_Missense_Mutation_p.E408K|TUB_ENST00000534099.1_Missense_Mutation_p.E414K NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 408 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) CCAGGAGCATGAGACACTGCT 0.547000 15 44 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51897826 51897826 + Splice_Site SNP A A C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr6:51897826A>C ENST00000371117.3 - 29 3640 c.e29+1 PKHD1_ENST00000340994.4_Splice_Site NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CACATATTTTACCTGCTATAT 0.353000 40 137 0 0 1 0 0 PANK2 80025 broad.mit.edu 37 20 3897632 3897632 + Nonsense_Mutation SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr20:3897632A>T ENST00000497424.1 + 5 909 c.598A>T c.(598-600)Aga>Tga p.R200* PANK2_ENST00000316562.4_Nonsense_Mutation_p.R491*|PANK2_ENST00000336066.3_3'UTR NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 491 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGACCTGGCCAGAGCGACTTT 0.448000 42 80 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264581 1264581 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr11:1264581C>T ENST00000447027.1 + 31 6538 c.6480C>T c.(6478-6480)ccC>ccT p.P2160P MUC5B_ENST00000529681.1_Silent_p.P2157P|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2157 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ggacaactcccatccccccag 0.647000 3 11 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10668543 10668543 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr19:10668543G>A ENST00000312962.6 - 15 1425 c.1406C>T c.(1405-1407)cCg>cTg p.P469L KRI1_ENST00000361821.5_Missense_Mutation_p.P465L NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 469 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TTTCTTCCTCGGCTGGCTGGG 0.667000 4 14 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26812851 26812851 + Missense_Mutation SNP G G A rs144496462 TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr15:26812851G>A ENST00000541819.2 - 8 982 c.880C>T c.(880-882)Cgg>Tgg p.R294W GABRB3_ENST00000299267.4_Missense_Mutation_p.R238W|GABRB3_ENST00000545868.1_Missense_Mutation_p.R153W|GABRB3_ENST00000400188.3_Missense_Mutation_p.R167W|GABRB3_ENST00000311550.5_Missense_Mutation_p.R238W P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 238 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CTCTTCAACCGAAAGCTCAGT 0.428000 11 60 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23815564 23815564 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr4:23815564G>A ENST00000264867.2 - 8 1661 c.1542C>T c.(1540-1542)agC>agT p.S514S PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 514 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TTTCATCTTCGCTGTCATCAA 0.413000 28 112 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10404677 10404677 + Missense_Mutation SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:10404677G>T ENST00000226207.5 - 27 3582 c.3488C>A c.(3487-3489)gCc>gAc p.A1163D CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1163 A -> T (in Ref. 4; CAA27380). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTCAATCTGGGCTGAGGTGGC 0.637000 39 195 8.01111e-26 9.34629e-26 1 1 0 PSMD14 10213 broad.mit.edu 37 2 162242001 162242001 + Silent SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:162242001C>A ENST00000409682.3 + 8 1193 c.489C>A c.(487-489)atC>atA p.I163I NM_005805.5 NP_005796.1 O00487 PSDE_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 163 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 12 TCAGATTGATCAATGCTAATA 0.363000 15 23 4.7546e-09 5.13753e-09 1 1 0 GREB1 9687 broad.mit.edu 37 2 11725952 11725952 + Silent SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:11725952A>T ENST00000381486.2 + 9 1380 c.1080A>T c.(1078-1080)ccA>ccT p.P360P GREB1_ENST00000381483.2_Silent_p.P360P|GREB1_ENST00000234142.5_Silent_p.P360P|GREB1_ENST00000263834.5_Silent_p.P360P NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 360 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCACCTTTCCAGTGGTGGCCT 0.507000 32 65 0 0 1 0 0 ZIC2 7546 broad.mit.edu 37 13 100637229 100637229 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr13:100637229G>A ENST00000376335.3 + 2 1398 c.1105G>A c.(1105-1107)Ggc>Agc p.G369S ZIC2_ENST00000477213.1_3'UTR NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 369 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGAGTTTGAGGGCTGCGACCG 0.612000 16 33 0 0 1 0 0 CCDC82 79780 broad.mit.edu 37 11 96117453 96117453 + Silent SNP T T C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr11:96117453T>C ENST00000278520.5 - 3 887 c.459A>G c.(457-459)ttA>ttG p.L153L CCDC82_ENST00000423339.2_Silent_p.L153L|CCDC82_ENST00000542662.1_Silent_p.L153L Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 153 protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) CCTCTTGACTTAAATGTTTTT 0.323000 36 161 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99681511 99681511 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:99681511C>T ENST00000393483.3 - 16 2139 c.1295G>A c.(1294-1296)cGt>cAt p.R432H TSGA10_ENST00000410001.1_Missense_Mutation_p.R432H|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.R432H|TSGA10_ENST00000355053.4_Missense_Mutation_p.R432H NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 432 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 CTCTGATTGACGGGCTTTATT 0.403000 39 124 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90021122 90021122 + Silent SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr15:90021122G>T ENST00000268122.4 - 6 989 c.921C>A c.(919-921)ctC>ctA p.L307L RHCG_ENST00000544600.1_Silent_p.L307L NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 307 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) AGCCGATGATGAGGGCACCGT 0.617000 10 46 4.68919e-08 4.99973e-08 1 1 0 FAM84B 157638 broad.mit.edu 37 8 127568878 127568878 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr8:127568878C>T ENST00000304916.3 - 2 1212 c.757G>A c.(757-759)Gag>Aag p.E253K NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 253 cytoplasm|plasma membrane protein binding lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) CGTCGCTTCTCCATGATCAGG 0.682000 9 10 0 0 1 0 0 GRIN3B 116444 broad.mit.edu 37 19 1004615 1004615 + Missense_Mutation SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr19:1004615G>T ENST00000234389.3 + 3 1134 c.1115G>T c.(1114-1116)aGc>aTc p.S372I GRIN3B_ENST00000588335.1_Intron NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 372 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) AAGGTGTGGAGCCTTCGCCGG 0.706000 3 8 0.115264 0.115264 1 1 0 FGB 2244 broad.mit.edu 37 4 155487770 155487770 + Nonsense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr4:155487770C>T ENST00000302068.4 + 3 499 c.436C>T c.(436-438)Cag>Tag p.Q146* FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 146 FQ -> QF (in Ref. 10; AA sequence, 11; AA sequence and 12; AA sequence). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TTCTTCCTTTCAGTACATGTA 0.403000 25 53 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107446571 107446571 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:107446571C>T ENST00000409382.3 - 5 1879 c.1269G>A c.(1267-1269)gaG>gaA p.E423E ST6GAL2_ENST00000361686.4_Silent_p.E423E|ST6GAL2_ENST00000409087.3_Silent_p.E423E NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 423 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.E423D(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CTTTAGTGTTCTCCTGGATAA 0.388000 30 89 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10084513 10084513 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chrX:10084513C>T ENST00000380861.4 + 10 1421 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C WWC3_ENST00000454666.1_Missense_Mutation_p.R344C NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 344 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AGAAGCCACCCGCTTAACATC 0.413000 25 58 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919923 12919923 + Silent SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:12919923A>T ENST00000240189.2 + 3 750 c.663A>T c.(661-663)atA>atT p.I221I NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 221 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACATCTGATAAGAAAGCTTT 0.383000 53 213 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205548961 205548961 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:205548961G>A ENST00000367147.4 + 2 406 c.313G>A c.(313-315)Gtg>Atg p.V105M MFSD4_ENST00000539267.1_Missense_Mutation_p.V105M|MFSD4_ENST00000536357.1_Missense_Mutation_p.V105M NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 105 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CTGCCGCGACGTGAAGGTGCT 0.627000 23 78 0 0 1 0 0 TCF3 6929 broad.mit.edu 37 19 1619317 1619317 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr19:1619317G>A ENST00000262965.5 - 15 1668 c.1324C>T c.(1324-1326)Ctg>Ttg p.L442L TCF3_ENST00000453954.2_Silent_p.L358L|TCF3_ENST00000344749.5_Silent_p.L442L|TCF3_ENST00000588136.1_Silent_p.L442L|TCF3_ENST00000395423.3_Silent_p.L391L NM_003200.3 NP_003191.1 P15923 TFE2_HUMAN transcription factor 3 442 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) 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) GCGCTCACCAGGCCTGCGTGC 0.741000 T """PBX1, HLF, TFPT""" pre B-ALL 4 4 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460189 107460189 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:107460189C>T ENST00000409382.3 - 2 855 c.245G>A c.(244-246)cGc>cAc p.R82H ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R82H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R82H NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 82 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TGGGTGGGCGCGGGGCAGCGC 0.657000 19 57 0 0 1 0 0 MMP12 4321 broad.mit.edu 37 11 102736639 102736639 + RNA SNP A A C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr11:102736639A>C ENST00000532855.1 - 0 1168 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) CTCTGGTCTTAAATTGCTAAT 0.299000 9 31 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32912648 32912648 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr13:32912648G>A ENST00000544455.1 + 11 4383 c.4156G>A c.(4156-4158)Gat>Aat p.D1386N BRCA2_ENST00000380152.3_Missense_Mutation_p.D1386N NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1386 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGATTTGTCAGATTTAACTTT 0.338000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 14 37 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136649786 136649786 + Missense_Mutation SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chrX:136649786G>T ENST00000287538.5 + 1 1486 c.936G>T c.(934-936)aaG>aaT p.K312N ZIC3_ENST00000370606.3_Missense_Mutation_p.K312N NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 312 Nuclear localization signal. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) TCAAGGCGAAGTACAAACTGG 0.602000 86 25 1.42479e-40 1.68669e-40 1 1 0 SLC9A4 389015 broad.mit.edu 37 2 103142788 103142788 + Missense_Mutation SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:103142788G>T ENST00000295269.4 + 11 2478 c.2021G>T c.(2020-2022)aGg>aTg p.R674M NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 674 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 AGAGACACAAGGGCTGCTGGG 0.537000 18 65 2.35188e-11 2.6114e-11 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228469780 228469780 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:228469780C>T ENST00000570156.2 + 36 9705 c.9631C>T c.(9631-9633)Cgc>Tgc p.R3211C OBSCN_ENST00000422127.1_Missense_Mutation_p.R2782C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2782C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1629C|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2245 Ig-like 32. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGCTCCAGCCGCTTCCAGGC 0.642000 3 31 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155020374 155020374 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:155020374G>A ENST00000295542.1 + 15 1820 c.1724G>A c.(1723-1725)cGg>cAg p.R575Q DCST1_ENST00000368419.2_Missense_Mutation_p.R575Q|DCST1_ENST00000392480.1_Missense_Mutation_p.R575Q|DCST1_ENST00000423025.2_Missense_Mutation_p.R550Q NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 575 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) TACCGACTCCGGAGGGTCATC 0.602000 12 51 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105615349 105615349 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr14:105615349G>A ENST00000331782.3 - 14 2234 c.1831C>T c.(1831-1833)Cgc>Tgc p.R611C JAG2_ENST00000347004.2_Missense_Mutation_p.R573C NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 611 EGF-like 10; atypical. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CTGACGCAGCGTCCATGGGGG 0.642000 6 14 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173998438 173998438 + Missense_Mutation SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr3:173998438G>T ENST00000457714.1 + 7 2246 c.1817G>T c.(1816-1818)tGg>tTg p.W606L NLGN1_ENST00000545397.1_Missense_Mutation_p.W606L|NLGN1_ENST00000401917.3_Missense_Mutation_p.W646L|NLGN1_ENST00000361589.4_Missense_Mutation_p.W606L NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 623 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GTGAACCTCTGGTTGGAGTTG 0.398000 42 128 1.22674e-20 1.4209e-20 1 1 0 CYLC1 1538 broad.mit.edu 37 X 83128916 83128916 + Silent SNP A A C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chrX:83128916A>C ENST00000329312.4 + 4 1237 c.1200A>C c.(1198-1200)gcA>gcC p.A400A NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 400 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 AAAAGGATGCAAAGAAAATTA 0.328000 4 12 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2783763 2783763 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr12:2783763C>T ENST00000399655.1 + 39 5048 c.4783C>T c.(4783-4785)Cgg>Tgg p.R1595W CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1620W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1603W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1623W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1601W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1636W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1612W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1643W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1603W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1615W NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1643 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GATCTGGAAGCGGACCAGCAT 0.632000 4 21 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21252782 21252782 + Silent SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:21252782A>G ENST00000233242.1 - 11 1585 c.1458T>C c.(1456-1458)taT>taC p.Y486Y APOB_ENST00000399256.4_Silent_p.Y486Y NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 486 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCAGAATCAAATAGGTGTAAT 0.443000 60 116 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94654553 94654553 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr12:94654553G>A ENST00000258526.4 + 20 3636 c.3387G>A c.(3385-3387)acG>acA p.T1129T PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Silent_p.T176T NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1129 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGAGACGCACGGAGTCCGTCG 0.512000 15 42 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103955 53103955 + Nonsense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr7:53103955G>A ENST00000408890.4 + 1 607 c.591G>A c.(589-591)tgG>tgA p.W197* NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 197 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGCCGTTGTGGTTCGAGGTCT 0.672000 379 51 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264578 1264578 + Silent SNP T T A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr11:1264578T>A ENST00000447027.1 + 31 6535 c.6477T>A c.(6475-6477)acT>acA p.T2159T MUC5B_ENST00000529681.1_Silent_p.T2156T|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2156 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ctgggacaactcccatccccc 0.647000 3 12 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33015677 33015677 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr10:33015677C>A ENST00000375030.2 + 11 1148 c.530C>A c.(529-531)tCt>tAt p.S177Y C10orf68_ENST00000375025.4_Missense_Mutation_p.S169Y|C10orf68_ENST00000375028.3_Missense_Mutation_p.S145Y Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 169 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 GATAAAAATTCTATGTTTGTT 0.294000 8 30 5.68852e-11 6.27296e-11 1 1 0 SEMA4G 57715 broad.mit.edu 37 10 102732925 102732925 + Missense_Mutation SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr10:102732925A>T ENST00000210633.3 + 2 242 c.164A>T c.(163-165)aAc>aTc p.N55I SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.N55I|SEMA4G_ENST00000370250.4_Missense_Mutation_p.N55I Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 55 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CAAGCCCAGAACTACTCAACA 0.637000 11 33 0 0 1 0 0 EDN1 1906 broad.mit.edu 37 6 12296207 12296207 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr6:12296207G>A ENST00000379375.5 + 5 813 c.546G>A c.(544-546)atG>atA p.M182I NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 182 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) CGGAGACCATGAGAAACAGCG 0.403000 125 112 0 0 1 0 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 8 32 0.000442599 0.000451003 1 1 0 HSPH1 10808 broad.mit.edu 37 13 31713028 31713028 + Missense_Mutation SNP T T A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr13:31713028T>A ENST00000320027.5 - 16 2442 c.2098A>T c.(2098-2100)Act>Tct p.T700S HSPH1_ENST00000380406.5_Missense_Mutation_p.T659S|HSPH1_ENST00000429785.2_Missense_Mutation_p.T519S|HSPH1_ENST00000380405.4_Missense_Mutation_p.T656S|HSPH1_ENST00000445273.2_Missense_Mutation_p.T702S NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 700 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TTAACTGGAGTGCCAATTTTC 0.338000 54 43 0 0 1 0 0 FXYD5 53827 broad.mit.edu 37 19 35655077 35655077 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr19:35655077C>T ENST00000342879.3 + 5 1089 c.311C>T c.(310-312)aCc>aTc p.T104I FXYD5_ENST00000423817.3_Missense_Mutation_p.T104I|FXYD5_ENST00000392219.2_Missense_Mutation_p.T104I|FXYD5_ENST00000543307.1_Missense_Mutation_p.T104I|FXYD5_ENST00000541435.2_Missense_Mutation_p.T104I|FXYD5_ENST00000590686.1_Missense_Mutation_p.T104I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Missense_Mutation_p.T33I|FXYD5_ENST00000588699.1_Missense_Mutation_p.T104I Q96DB9 FXYD5_HUMAN FXYD domain containing ion transport regulator 5 104 microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) ACTGATGACACCACGACGCTC 0.557000 13 41 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28326985 28326985 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr15:28326985G>A ENST00000354638.3 - 2 191 c.36C>T c.(34-36)ccC>ccT p.P12P OCA2_ENST00000382996.2_Silent_p.P12P|OCA2_ENST00000353809.5_Silent_p.P12P NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 12 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CCGGCGCGCCGGGGTACCGCC 0.652000 Oculocutaneous Albinism 4 32 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148039927 148039927 + Missense_Mutation SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chrX:148039927A>G ENST00000370460.2 + 12 3108 c.2629A>G c.(2629-2631)Atc>Gtc p.I877V AFF2_ENST00000286437.5_Missense_Mutation_p.I518V|AFF2_ENST00000342251.3_Missense_Mutation_p.I844V|AFF2_ENST00000370457.5_Missense_Mutation_p.I844V NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 877 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GGCCACAACTATCTGCTTGCT 0.512000 148 33 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33680571 33680571 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr20:33680571G>A ENST00000252015.2 - 1 103 c.14C>T c.(13-15)cCg>cTg p.P5L TRPC4AP_ENST00000432634.2_Missense_Mutation_p.P5L|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.P5L Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 5 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding p.P5L(1) breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGCCGCTACCGGCGCCGCCGC 0.741000 9 12 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5772958 5772958 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr19:5772958C>T ENST00000381624.3 + 20 1984 c.1923C>T c.(1921-1923)ccC>ccT p.P641P CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 641 integral to membrane TCGGGGGGCCCTTCTTCTGGA 0.587000 11 25 0 0 1 0 0 LCP2 3937 broad.mit.edu 37 5 169689739 169689739 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr5:169689739C>A ENST00000046794.5 - 13 1441 c.826G>T c.(826-828)Ggg>Tgg p.G276W LCP2_ENST00000521416.1_Missense_Mutation_p.G71W NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 276 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) AAATGCTCCCCGAGTGACCTG 0.507000 22 27 7.45023e-12 8.32977e-12 1 1 0 SPINT4 391253 broad.mit.edu 37 20 44352533 44352533 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr20:44352533G>A ENST00000279058.3 + 2 147 c.130G>A c.(130-132)Gac>Aac p.D44N NM_178455.1 NP_848550.1 Q6UDR6 SPIT4_HUMAN serine peptidase inhibitor, Kunitz type 4 44 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity lung(6)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.028) CTGCAAATTGGACATGAATTT 0.408000 24 134 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362799 105362799 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr10:105362799C>T ENST00000369774.4 - 15 2452 c.2176G>A c.(2176-2178)Gca>Aca p.A726T SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A593T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A561T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A698T|SH3PXD2A_ENST00000427662.2_Intron Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 726 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) CGGATGCCTGCGTCCGAAGCA 0.617000 21 92 0 0 1 0 0 HOXA13 3209 broad.mit.edu 37 7 27237893 27237893 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr7:27237893C>A ENST00000222753.4 - 2 1119 c.1091G>T c.(1090-1092)cGg>cTg p.R364L NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 364 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 TGTGACCTGCCGCTCAGAGAG 0.413000 T NUP98 AML 76 291 1.1397e-45 1.36934e-45 1 1 0 DBF4B 80174 broad.mit.edu 37 17 42786728 42786728 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:42786728G>A ENST00000315005.3 + 2 214 c.76G>A c.(76-78)Gac>Aac p.D26N DBF4B_ENST00000526915.1_Intron|DBF4B_ENST00000398338.3_Missense_Mutation_p.D26N|DBF4B_ENST00000393547.2_Missense_Mutation_p.D26N NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 26 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) CCGGGCCCCGGACCTAGGTGG 0.537000 7 341 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40959707 40959707 + Missense_Mutation SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr5:40959707A>T ENST00000313164.9 + 12 2005 c.1646A>T c.(1645-1647)gAg>gTg p.E549V NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 549 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GAAGATGAGGAGCTGGAGCAC 0.522000 15 19 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097175 167097175 + Missense_Mutation SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:167097175A>T ENST00000361200.2 + 6 2973 c.2807A>T c.(2806-2808)aAt>aTt p.N936I DUSP27_ENST00000443333.1_Missense_Mutation_p.N936I|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.N936I Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 936 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGCAGTATTAATAAGTGGCTC 0.502000 12 20 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1265999 1265999 + Missense_Mutation SNP T T C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr11:1265999T>C ENST00000447027.1 + 31 7956 c.7898T>C c.(7897-7899)cTt>cCt p.L2633P MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2630 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.L2630P(1)|p.L2609P(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCACGCACGCTTCCAGTGTGG 0.637000 4 107 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14832660 14832660 + Missense_Mutation SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chrY:14832660A>T ENST00000338981.3 + 4 1180 c.235A>T c.(235-237)Atg>Ttg p.M79L USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 79 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CCTGGATGACATGATCAACAG 0.428000 32 35 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245530315 245530315 + Missense_Mutation SNP C C G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:245530315C>G ENST00000407071.2 + 3 1085 c.645C>G c.(643-645)gaC>gaG p.D215E KIF26B_ENST00000479506.1_3'UTR NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 215 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGCACTACGACGCCTCGCCCT 0.657000 8 17 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6898608 6898608 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr11:6898608G>A ENST00000379829.2 + 1 753 c.730G>A c.(730-732)Gcc>Acc p.A244T NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A244T(2) kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACCTGTTCCGCCCACCTCTT 0.527000 32 76 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151337669 151337669 + Missense_Mutation SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:151337669A>G ENST00000426705.2 - 10 1403 c.1259T>C c.(1258-1260)gTc>gCc p.V420A SELENBP1_ENST00000447402.3_Missense_Mutation_p.V316A|SELENBP1_ENST00000368868.5_Missense_Mutation_p.V378A|SELENBP1_ENST00000435071.1_Missense_Mutation_p.V314A NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 378 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCTTACCTTGACCACTAGGGG 0.582000 4 22 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104119951 104119951 + Missense_Mutation SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr10:104119951G>T ENST00000369983.3 + 12 1448 c.1188G>T c.(1186-1188)ttG>ttT p.L396F GBF1_ENST00000476019.1_Intron NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 396 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GCACAGCTTTGGTCCCCTATG 0.527000 106 339 7.35891e-43 8.77618e-43 1 1 0 DDX28 55794 broad.mit.edu 37 16 68056207 68056207 + Missense_Mutation SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr16:68056207A>T ENST00000332395.5 - 1 1563 c.899T>A c.(898-900)gTg>gAg p.V300E NM_018380.3 NP_060850.2 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 300 Helicase ATP-binding. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) GATGTAGTCCACCAGTTCCAG 0.507000 23 91 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77973178 77973178 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr7:77973178C>A ENST00000354212.4 - 9 1578 c.1325G>T c.(1324-1326)gGt>gTt p.G442V MAGI2_ENST00000536571.1_Missense_Mutation_p.G274V|MAGI2_ENST00000419488.1_Missense_Mutation_p.G442V|MAGI2_ENST00000535697.1_Missense_Mutation_p.G279V|MAGI2_ENST00000522391.1_Missense_Mutation_p.G442V NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 442 PDZ 2. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTCGTCTCCACCAATGATGGT 0.488000 11 35 9.70103e-10 1.05531e-09 1 1 0 TPP2 7174 broad.mit.edu 37 13 103249403 103249403 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr13:103249403G>A ENST00000376052.3 + 1 31 c.15G>A c.(13-15)gcG>gcA p.A5A TPP2_ENST00000376065.4_Silent_p.A5A P29144 TPP2_HUMAN tripeptidyl peptidase II 5 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCACCGCTGCGACTGAGGAGC 0.687000 6 13 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203329550 203329550 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:203329550G>A ENST00000374580.4 + 2 634 c.95G>A c.(94-96)cGg>cAg p.R32Q BMPR2_ENST00000374574.2_Missense_Mutation_p.R32Q|BMPR2_ENST00000479069.1_3'UTR NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 32 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 AATCAAGAACGGCTATGTGCG 0.343000 36 36 0 0 1 0 0 NCLN 56926 broad.mit.edu 37 19 3207443 3207443 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr19:3207443C>T ENST00000246117.4 + 14 2039 c.1608C>T c.(1606-1608)ctC>ctT p.L536L NCLN_ENST00000590671.1_Silent_p.L462L NM_020170.3 NP_064555.2 Q969V3 NCLN_HUMAN nicalin 536 proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding kidney(1)|lung(3)|skin(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCCTACCTCGGCATGGCCT 0.672000 54 108 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183944297 183944297 + Silent SNP G G C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:183944297G>C ENST00000361927.4 - 3 797 c.426C>G c.(424-426)gcC>gcG p.A142A COLGALT2_ENST00000546159.1_Silent_p.A142A NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 TCATCACATGGGCAAACCGGG 0.428000 14 113 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634203 70634203 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr14:70634203G>A ENST00000381269.2 - 2 1690 c.937C>T c.(937-939)Cgc>Tgc p.R313C SLC8A3_ENST00000356921.2_Missense_Mutation_p.R313C|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R313C|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R313C|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R313C NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 313 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ATCTCTCTGCGGGACTCATCC 0.488000 37 79 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47287699 47287699 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr3:47287699C>A ENST00000335044.2 - 13 1634 c.1277G>T c.(1276-1278)cGg>cTg p.R426L KIF9_ENST00000452770.2_Missense_Mutation_p.R426L|KIF9_ENST00000265529.3_Missense_Mutation_p.R426L|KIF9_ENST00000352910.4_Missense_Mutation_p.R333L|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.R426L NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 426 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CAGAACCACCCGGAACTGGTT 0.562000 5 22 0.0215528 0.0218239 1 1 0 DCAF11 80344 broad.mit.edu 37 14 24592244 24592244 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr14:24592244C>T ENST00000558325.1 + 2 232 c.232C>T c.(232-234)Cgt>Tgt p.R78C DCAF11_ENST00000559115.1_Silent_p.D488D|DCAF11_ENST00000446197.3_Silent_p.D488D|DCAF11_ENST00000396941.4_Silent_p.D462D|DCAF11_ENST00000396936.1_Silent_p.D388D GTGTGCGTGACGTCAGTTGGC 0.562000 16 82 0 0 1 0 0 CCHCR1 54535 broad.mit.edu 37 6 31118256 31118256 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr6:31118256C>T ENST00000396268.3 - 7 1376 c.1188G>A c.(1186-1188)ctG>ctA p.L396L CCHCR1_ENST00000376266.5_Silent_p.L307L|CCHCR1_ENST00000451521.2_Silent_p.L360L|CCHCR1_ENST00000396263.2_Silent_p.L307L|CCHCR1_ENST00000480060.1_Intron NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 307 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 CCTCCTCCTGCAGGGCGAGGA 0.672000 7 38 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9754511 9754511 + Splice_Site SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr3:9754511A>G ENST00000383832.3 + 9 734 c.545_splice c.e9+1 p.T182_splice CPNE9_ENST00000383831.3_Splice_Site_p.T182_splice NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 182 C2 2. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) TGAGGATGGCACGTGAGTCAC 0.517000 19 37 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31975138 31975138 + Missense_Mutation SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr20:31975138G>T ENST00000357886.4 - 6 899 c.746C>A c.(745-747)tCt>tAt p.S249Y CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.S159Y|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000473997.1_5'UTR Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 249 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 CACAAAGGCAGACGTGGCACT 0.507000 19 30 7.21436e-19 8.29652e-19 1 1 0 CD2 914 broad.mit.edu 37 1 117297443 117297443 + Nonsense_Mutation SNP T T A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:117297443T>A ENST00000369478.3 + 2 360 c.252T>A c.(250-252)taT>taA p.Y84* CD2_ENST00000369477.1_Nonsense_Mutation_p.Y84* NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 84 Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) AAGATACATATAAGCTATTTA 0.299000 17 35 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92908448 92908448 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr14:92908448G>A ENST00000532405.1 + 5 635 c.409G>A c.(409-411)Gaa>Aaa p.E137K SLC24A4_ENST00000531433.1_Missense_Mutation_p.E137K|SLC24A4_ENST00000351924.5_Missense_Mutation_p.E120K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E73K|SLC24A4_ENST00000298877.1_Missense_Mutation_p.E120K Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 137 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCATCTGAGCGAAGATGTGGC 0.557000 12 61 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498857 73498857 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:73498857C>T ENST00000321617.3 - 18 2884 c.2298G>A c.(2296-2298)ccG>ccA p.P766P CASKIN2_ENST00000433559.2_Silent_p.P684P NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 766 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCCTGGGGCCGGGCTAGAGG 0.667000 15 28 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986505 61986505 + Missense_Mutation SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr13:61986505G>T ENST00000409186.1 - 5 3832 c.1727C>A c.(1726-1728)cCt>cAt p.P576H PCDH20_ENST00000409204.4_Missense_Mutation_p.P576H Q8N6Y1 PCD20_HUMAN protocadherin 20 549 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TGGAGCATCAGGTCCCAGAAA 0.443000 18 102 1.99824e-07 2.11655e-07 1 1 0 OR4D2 124538 broad.mit.edu 37 17 56247582 56247582 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:56247582G>A ENST00000545221.1 + 1 566 c.566G>A c.(565-567)tGc>tAc p.C189Y NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 AGACTTGCCTGCACTGACACC 0.512000 4 111 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155234038 155234038 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:155234038G>A ENST00000368361.4 - 11 1515 c.1200C>T c.(1198-1200)atC>atT p.I400I CLK2_ENST00000536801.1_Silent_p.I400I|CLK2_ENST00000355560.4_Silent_p.I398I|CLK2_ENST00000361168.5_Silent_p.I399I|CLK2_ENST00000497188.1_5'UTR P49760 CLK2_HUMAN CDC-like kinase 2 400 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCCGGGAAGGGATAGGACCCA 0.458000 Other conserved DNA damage response genes 14 63 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272863 17272863 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:17272863C>T ENST00000375541.5 + 16 2315 c.2246C>T c.(2245-2247)gCt>gTt p.A749V CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 749 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GAGAGCCTTGCTCAGGACAAG 0.652000 16 51 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111697739 111697739 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr6:111697739C>T ENST00000435970.1 - 15 2401 c.1585G>A c.(1585-1587)Gaa>Aaa p.E529K REV3L_ENST00000368802.3_Missense_Mutation_p.E607K|REV3L_ENST00000358835.3_Missense_Mutation_p.E607K|REV3L_ENST00000368805.1_Missense_Mutation_p.E607K O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 607 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AGACCTTTTTCTGTATTTTTG 0.338000 DNA polymerases (catalytic subunits) 17 39 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10399294 10399294 + Silent SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:10399294A>G ENST00000226207.5 - 35 5236 c.5142T>C c.(5140-5142)agT>agC p.S1714S CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1714 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GAACACGCTCACTGGCATCCA 0.502000 21 67 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1416304 1416304 + Missense_Mutation SNP C C G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr5:1416304C>G ENST00000270349.9 - 7 1067 c.940G>C c.(940-942)Gcg>Ccg p.A314P SLC6A3_ENST00000453492.2_Missense_Mutation_p.A314P NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 314 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGGGTGGCCGCGTCAATCCAA 0.627000 4 50 0 0 1 0 0 ADAM10 102 broad.mit.edu 37 15 58889782 58889782 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr15:58889782G>A ENST00000260408.3 - 16 2654 c.2211C>T c.(2209-2211)ccC>ccT p.P737P ADAM10_ENST00000396140.2_Silent_p.P436P|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 737 cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) AACTCTCTCGGGGCCGCTGAC 0.473000 27 38 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55650774 55650774 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chrX:55650774C>T ENST00000339140.3 + 1 942 c.630C>T c.(628-630)caC>caT p.H210H NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 210 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.H210H(1) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 ACAACCCCCACTGTGGCCTCA 0.498000 29 35 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132180004 132180004 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr3:132180004G>A ENST00000260818.6 + 15 1916 c.1668G>A c.(1666-1668)ttG>ttA p.L556L DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 556 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 ATATGCTCTTGGAGATGGTAG 0.423000 63 136 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101627475 101627475 + Missense_Mutation SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:101627475A>T ENST00000409318.1 - 19 3061 c.2931T>A c.(2929-2931)gaT>gaA p.D977E RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.D962E NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 962 EKD -> KKK (in Ref. 1; BAA76517). blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 GTTTCTGATAATCAACTGCAT 0.353000 21 72 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236826 140236826 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr5:140236826C>A ENST00000307360.5 + 1 1193 c.1193C>A c.(1192-1194)tCc>tAc p.S398Y PCDHA10_ENST00000506939.2_Missense_Mutation_p.S398Y|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.S398F(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCTGGTGTCCACCTACAAG 0.597000 36 129 2.42023e-17 2.76353e-17 1 1 0 TRIM27 5987 broad.mit.edu 37 6 28872268 28872268 + Missense_Mutation SNP T T A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr6:28872268T>A ENST00000377199.3 - 8 1477 c.1121A>T c.(1120-1122)gAg>gTg p.E374V TRIM27_ENST00000377194.3_Intron NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 374 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CACCTCTACCTCCCAATAATG 0.527000 T RET papillary thyroid 4 72 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132658259 132658259 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr9:132658259C>T ENST00000420781.1 - 16 1895 c.1677G>A c.(1675-1677)acG>acA p.T559T FNBP1_ENST00000446176.2_Silent_p.T568T|FNBP1_ENST00000443566.2_Silent_p.T196T|FNBP1_ENST00000355681.3_Silent_p.T539T Q96RU3 FNBP1_HUMAN formin binding protein 1 568 Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding p.T568T(1) Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CTACGGAAATCGTTCCTTCAT 0.443000 T MLL AML 15 43 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32996151 32996151 + Missense_Mutation SNP G G C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr12:32996151G>C ENST00000070846.6 - 6 1499 c.1475C>G c.(1474-1476)aCg>aGg p.T492R PKP2_ENST00000340811.4_Intron NM_004572.3 NP_004563.2 Q99959 PKP2_HUMAN plakophilin 2 492 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) tcctgacctcgtgatccgccc 0.547000 13 11 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31741062 31741062 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr22:31741062C>T ENST00000266269.5 - 1 1156 c.527G>A c.(526-528)cGc>cAc p.R176H PATZ1_ENST00000351933.4_Missense_Mutation_p.R176H|PATZ1_ENST00000405309.3_Missense_Mutation_p.R176H|PATZ1_ENST00000215919.3_Missense_Mutation_p.R176H NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 176 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 CCCAGGGGGGCGAAAGAGCAT 0.592000 32 93 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32098724 32098724 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr5:32098724C>T ENST00000438447.1 + 23 8590 c.8202C>T c.(8200-8202)ccC>ccT p.P2734P PDZD2_ENST00000282493.3_Silent_p.P2734P O15018 PDZD2_HUMAN PDZ domain containing 2 2734 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGACCATCCCCCTGGAGCCTG 0.527000 4 35 0 0 1 0 0 ZNF595 152687 broad.mit.edu 37 4 59431 59431 + Missense_Mutation SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr4:59431A>T ENST00000509152.2 + 2 297 c.112A>T c.(112-114)Agg>Tgg p.R38W ZNF595_ENST00000526473.2_Missense_Mutation_p.R38W|ZNF595_ENST00000339368.6_3'UTR zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GGAGAACTACAGGAACCTGGT 0.433000 40 808 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175877 57175877 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr19:57175877C>T ENST00000537055.2 - 2 921 c.690G>A c.(688-690)gcG>gcA p.A230A NM_001005850.2 NP_001005850.2 zinc finger protein 835 p.A252A(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GGTTGCGGAACGCCTTGGCGC 0.697000 11 30 0 0 1 0 0 HEATR3 55027 broad.mit.edu 37 16 50102745 50102745 + Silent SNP T T C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr16:50102745T>C ENST00000299192.7 + 3 557 c.366T>C c.(364-366)gaT>gaC p.D122D HEATR3_ENST00000285767.4_Silent_p.D36D NM_182922.2 NP_891552.1 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 122 binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 TGACTAAGGATATCATGACCC 0.373000 47 182 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211093339 211093339 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:211093339C>T ENST00000367007.4 - 7 1193 c.1024G>A c.(1024-1026)Gac>Aac p.D342N KCNH1_ENST00000271751.4_Missense_Mutation_p.D369N NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 369 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ATGTAGTGGTCCAGCTTACGG 0.577000 19 75 0 0 1 0 0 SH3D19 152503 broad.mit.edu 37 4 152065407 152065407 + Missense_Mutation SNP T T C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr4:152065407T>C ENST00000304527.4 - 12 2365 c.1276A>G c.(1276-1278)Att>Gtt p.I426V SH3D19_ENST00000409252.2_Missense_Mutation_p.I426V|SH3D19_ENST00000409598.4_Intron|SH3D19_ENST00000424281.1_Intron|SH3D19_ENST00000427414.2_Intron|SH3D19_ENST00000455740.1_Intron|SH3D19_ENST00000514152.1_Intron NM_001009555.3 NP_001009555.3 Q5HYK7 SH319_HUMAN SH3 domain containing 19 426 SH3 1. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TGAGAGACAATATCTTCATTG 0.368000 30 106 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34804007 34804007 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr6:34804007C>A ENST00000192788.5 + 8 1086 c.915C>A c.(913-915)agC>agA p.S305R UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S305R NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 305 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 ACAGCAACAGCAGCAGCAGCC 0.552000 84 150 6.44082e-31 7.56914e-31 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25446507 25446507 + RNA SNP G G C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr15:25446507G>C ENST00000424208.1 + 0 1988 SNHG14_ENST00000424333.1_RNA|SNORD115-17_ENST00000364612.1_RNA NR_003305.1 CCTGAAGAGAGGTGATGACTT 0.502000 72 392 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27353504 27353504 + Nonsense_Mutation SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr16:27353504G>T ENST00000395762.2 + 4 392 c.133G>T c.(133-135)Gag>Tag p.E45* IL4R_ENST00000449195.1_Nonsense_Mutation_p.E45*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.E45*|IL4R_ENST00000380922.3_Nonsense_Mutation_p.E30*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.E45* NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 45 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CTCTACTTGCGAGTGGAAGAT 0.587000 29 63 3.73148e-12 4.20117e-12 1 1 0 ACOX3 8310 broad.mit.edu 37 4 8407729 8407729 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr4:8407729C>T ENST00000356406.5 - 7 806 c.729G>A c.(727-729)atG>atA p.M243I ACOX3_ENST00000413009.2_Missense_Mutation_p.M243I|ACOX3_ENST00000503233.1_Missense_Mutation_p.M243I NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 243 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 TGTCGCCAACCATCACTCCAG 0.517000 56 272 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368994 86368994 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr13:86368994C>T ENST00000400286.2 - 2 2248 c.1650G>A c.(1648-1650)ggG>ggA p.G550G NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 550 LRRCT 2. integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGTCGAGATGCCCGGGGGAAG 0.463000 4 74 0 0 1 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202913030 202913030 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:202913030C>A ENST00000340990.5 - 6 959 c.661G>T c.(661-663)Gtc>Ttc p.V221F ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V221F|ADIPOR1_ENST00000367254.3_Intron NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 221 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) AGCCAGGGGACAAAGCTCCCC 0.468000 6 27 0.0293803 0.029564 1 1 0 COLEC11 78989 broad.mit.edu 37 2 3660936 3660936 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:3660936G>A ENST00000403096.3 + 2 579 c.88G>A c.(88-90)Gga>Aga p.G30R COLEC11_ENST00000236693.7_Silent_p.P26P|COLEC11_ENST00000418971.2_Missense_Mutation_p.G70R|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000402922.1_Missense_Mutation_p.G30R|COLEC11_ENST00000382062.2_Missense_Mutation_p.G56R|COLEC11_ENST00000349077.4_Missense_Mutation_p.G56R NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 56 collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) AGGCGCCCCCGGACGGCCTGG 0.622000 3 18 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90106618 90106618 + Missense_Mutation SNP G G C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr5:90106618G>C ENST00000405460.2 + 74 15637 c.15541G>C c.(15541-15543)Gag>Cag p.E5181Q GPR98_ENST00000425867.2_Missense_Mutation_p.E842Q NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5181 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CATTGTTACTGAGGCAACTGG 0.493000 36 30 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38185713 38185713 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:38185713C>T ENST00000373048.4 - 14 2429 c.2430G>A c.(2428-2430)gcG>gcA p.A810A EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Silent_p.A305A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.A810A NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 810 Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CGGCCCATAGCGCTGGGCTCC 0.632000 9 38 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77973179 77973179 + Missense_Mutation SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr7:77973179C>A ENST00000354212.4 - 9 1577 c.1324G>T c.(1324-1326)Ggt>Tgt p.G442C MAGI2_ENST00000536571.1_Missense_Mutation_p.G274C|MAGI2_ENST00000419488.1_Missense_Mutation_p.G442C|MAGI2_ENST00000535697.1_Missense_Mutation_p.G279C|MAGI2_ENST00000522391.1_Missense_Mutation_p.G442C NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 442 PDZ 2. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TCGTCTCCACCAATGATGGTA 0.488000 11 35 9.70103e-10 1.05531e-09 1 1 0 TTC25 83538 broad.mit.edu 37 17 40091513 40091513 + RNA SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:40091513G>T ENST00000591658.1 + 0 226 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CTGGTTGCTCGCTCAAAGTGC 0.517000 8 38 1.12685e-05 1.17807e-05 1 1 0 SYT6 148281 broad.mit.edu 37 1 114680204 114680204 + Silent SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr1:114680204A>G ENST00000393296.1 - 3 1061 c.984T>C c.(982-984)atT>atC p.I328I SYT6_ENST00000369547.1_Silent_p.I243I Q5T7P8 SYT6_HUMAN synaptotagmin VI 328 C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGACCTCGCCAATCATGTCAT 0.532000 20 32 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74536343 74536343 + Splice_Site SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr15:74536343G>A ENST00000321288.5 + 4 648 c.e4-1 CCDC33_ENST00000398814.3_Silent_p.E13E Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AAGACCCAGAGGAGCCCCTGA 0.552000 32 122 0 0 1 0 0 MLEC 9761 broad.mit.edu 37 12 121125273 121125273 + Silent SNP G G T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr12:121125273G>T ENST00000228506.3 + 1 602 c.174G>T c.(172-174)gcG>gcT p.A58A MLEC_ENST00000412616.2_Silent_p.A58A NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 58 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 GTGGAGAGGCGCATGTGGACG 0.746000 19 16 3.51602e-12 3.98647e-12 1 1 0 BTAF1 9044 broad.mit.edu 37 10 93744029 93744029 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr10:93744029C>T ENST00000265990.6 + 19 2603 c.2295C>T c.(2293-2295)gaC>gaT p.D765D BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 765 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TATATTATGACGAAATTGCCG 0.348000 18 45 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37357241 37357241 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr20:37357241G>A ENST00000217420.1 + 2 1800 c.1537G>A c.(1537-1539)Gag>Aag p.E513K NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 513 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) GCACTCCCTCGAGGGCCTCAT 0.667000 5 30 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170066058 170066058 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:170066058C>T ENST00000263816.3 - 38 6659 c.6374G>A c.(6373-6375)cGt>cAt p.R2125H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2125 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTTAATTCTACGGATCGCATT 0.453000 18 84 0 0 1 0 0 CEACAM16 388551 broad.mit.edu 37 19 45206848 45206848 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr19:45206848C>T ENST00000587331.1 + 3 482 c.267C>T c.(265-267)ccC>ccT p.P89P CEACAM16_ENST00000405314.2_Silent_p.P89P|CTB-171A8.1_ENST00000590796.1_RNA NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 89 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) CTGTGCGCCCCGATGGCAGCC 0.662000 25 12 0 0 1 0 0 FAM107B 83641 broad.mit.edu 37 10 14563887 14563887 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr10:14563887C>T ENST00000181796.2 - 4 1018 c.785G>A c.(784-786)cGg>cAg p.R262Q FAM107B_ENST00000378470.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378467.4_Missense_Mutation_p.R87Q|FAM107B_ENST00000496330.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000468747.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378462.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378458.2_Missense_Mutation_p.R87Q|FAM107B_ENST00000478076.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378465.3_Missense_Mutation_p.R87Q|FAM107B_ENST00000479731.1_Missense_Mutation_p.R87Q NM_031453.2 NP_113641.2 Q9H098 F107B_HUMAN family with sequence similarity 107, member B 87 breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CTTCTGCTGCCGTTTTAATAG 0.423000 20 98 0 0 1 0 0 C6orf25 80739 broad.mit.edu 37 6 31691724 31691724 + Missense_Mutation SNP G G C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr6:31691724G>C ENST00000375809.3 + 2 381 c.370G>C c.(370-372)Ggg>Cgg p.G124R C6orf25_ENST00000480039.1_Missense_Mutation_p.G124R|C6orf25_ENST00000375810.4_Missense_Mutation_p.G124R|C6orf25_ENST00000375805.2_Missense_Mutation_p.G124R NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 124 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TCACGTGCTGGGGGACAGGAC 0.632000 21 141 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891831 18891831 + Missense_Mutation SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr12:18891831A>G ENST00000317658.3 + 1 787 c.629A>G c.(628-630)aAa>aGa p.K210R NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 210 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AAGGACCTGAAAGAAAGCTTG 0.403000 17 80 0 0 1 0 0 CASP10 843 broad.mit.edu 37 2 202082352 202082352 + Missense_Mutation SNP A A T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:202082352A>T ENST00000286186.6 + 10 1892 c.1457A>T c.(1456-1458)gAt>gTt p.D486V CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000313728.7_Missense_Mutation_p.D419V|CASP10_ENST00000346817.5_Missense_Mutation_p.D443V|CASP10_ENST00000272879.5_Intron NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 0 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 GTCAACGATGATGTGAGTCGA 0.448000 20 90 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83451772 83451772 + Silent SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr15:83451772A>G ENST00000334574.8 - 4 922 c.741T>C c.(739-741)aaT>aaC p.N247N FSD2_ENST00000541889.1_Silent_p.N247N A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 247 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 GTTTTCCAAAATTCTCCTGCA 0.338000 107 47 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86493656 86493656 + Missense_Mutation SNP C C G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr7:86493656C>G ENST00000394720.2 + 5 1729 c.1552C>G c.(1552-1554)Cac>Gac p.H518D GRM3_ENST00000536043.1_Silent_p.T747T|GRM3_ENST00000439827.1_Missense_Mutation_p.H520D|GRM3_ENST00000546348.1_Silent_p.T467T|GRM3_ENST00000361669.2_Silent_p.T875T Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 0 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCGACTCCACCACCTCATCTC 0.463000 35 83 0 0 1 0 0 KAT2A 2648 broad.mit.edu 37 17 40272335 40272335 + Silent SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:40272335G>A ENST00000225916.5 - 3 570 c.517C>T c.(517-519)Ctg>Ttg p.L173L CTD-2132N18.3_ENST00000592574.1_Silent_p.L207L NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 173 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 ACCATCCCCAGCAGTCGGTTT 0.458000 21 60 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13522936 13522936 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr10:13522936C>T ENST00000341083.3 - 6 1166 c.870G>A c.(868-870)cgG>cgA p.R290R BEND7_ENST00000396900.2_Silent_p.R342R|BEND7_ENST00000378605.3_Silent_p.R303R|BEND7_ENST00000396898.2_Silent_p.R355R NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 342 BEN. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 CTAGTCCTTTCCGGTTGTCAT 0.423000 25 109 0 0 1 0 0 COX5A 9377 broad.mit.edu 37 15 75219166 75219166 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr15:75219166G>A ENST00000322347.6 - 3 433 c.280C>T c.(280-282)Cgg>Tgg p.R94W COX5A_ENST00000568517.1_Missense_Mutation_p.R13W|COX5A_ENST00000567270.1_Missense_Mutation_p.R55W|COX5A_ENST00000568783.1_Missense_Mutation_p.R94W|COX5A_ENST00000564811.1_Missense_Mutation_p.R94W|COX5A_ENST00000562233.1_Intron NM_004255.3 NP_004246.2 P20674 COX5A_HUMAN cytochrome c oxidase subunit Va 94 respiratory electron transport chain mitochondrial inner membrane cytochrome-c oxidase activity|electron carrier activity|metal ion binding endometrium(1)|large_intestine(1)|pancreas(1) 3 CTGCATGCCCGCAAAGCAGCA 0.388000 5 111 0 0 1 0 0 MAPK7 5598 broad.mit.edu 37 17 19284199 19284199 + Nonsense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:19284199G>A ENST00000308406.5 + 4 1063 c.677G>A c.(676-678)tGg>tAg p.W226* MAPK7_ENST00000395602.4_Nonsense_Mutation_p.W226*|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Nonsense_Mutation_p.W226*|MAPK7_ENST00000299612.7_Nonsense_Mutation_p.W87* NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 226 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) GCCACGCGCTGGTACCGTGCG 0.562000 6 49 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99461158 99461158 + Splice_Site SNP A A G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr7:99461158A>G ENST00000354829.2 + 12 1356 c.e12-1 CYP3A43_ENST00000415413.1_Splice_Site|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Splice_Site_p.R419_splice|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000417625.1_Splice_Site|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Intron NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) CTGTGAAAGTAGGTTCAGTAA 0.413000 23 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179456494 179456494 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:179456494C>T ENST00000589042.1 - 303 60276 c.60052G>A c.(60052-60054)Gaa>Aaa p.E20018K TTN_ENST00000342175.6_Missense_Mutation_p.E11145K|TTN_ENST00000460472.2_Missense_Mutation_p.E10953K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11078K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18377K|TTN_ENST00000342992.6_Missense_Mutation_p.E17450K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18377 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGCCTTCTTCTTGATATTCT 0.423000 52 51 0 0 1 0 0 SLC35D3 340146 broad.mit.edu 37 6 137243766 137243766 + Missense_Mutation SNP T T C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr6:137243766T>C ENST00000331858.4 + 1 365 c.200T>C c.(199-201)gTg>gCg p.V67A NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 67 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CTCATCGCCGTGCCCCCCTTC 0.716000 4 14 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123383038 123383038 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr3:123383038G>A ENST00000360772.3 - 24 4277 c.3899C>T c.(3898-3900)gCg>gTg p.A1300V MYLK_ENST00000360304.3_Missense_Mutation_p.A1300V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1300V|MYLK_ENST00000354792.5_Missense_Mutation_p.A100V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1231V|MYLK_ENST00000475616.1_Missense_Mutation_p.A1300V Q15746 MYLK_HUMAN myosin light chain kinase 1300 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. A -> G (in Ref. 1; CAA59685). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTCCTGGCGCGCGGCCAGGAT 0.632000 81 112 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64521044 64521044 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr11:64521044C>T ENST00000164139.3 - 11 1748 c.1350G>A c.(1348-1350)tcG>tcA p.S450S PYGM_ENST00000377432.3_Silent_p.S362S NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 450 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TGACGGCGTGCGACCCCGCGA 0.662000 3 11 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10247330 10247330 + Missense_Mutation SNP T T C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:10247330T>C ENST00000418404.3 - 15 1844 c.1681A>G c.(1681-1683)Aaa>Gaa p.K561E MYH13_ENST00000252172.4_Missense_Mutation_p.K561E|MYH13_ENST00000570743.1_Missense_Mutation_p.K561E Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 561 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTGTTGGATTTTCCAAGATGC 0.547000 123 51 0 0 1 0 0 PROC 5624 broad.mit.edu 37 2 128186041 128186041 + Missense_Mutation SNP T T G TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr2:128186041T>G ENST00000453608.2 + 8 1078 c.1070T>G c.(1069-1071)cTg>cGg p.L357R PROC_ENST00000409048.1_Missense_Mutation_p.L336R|PROC_ENST00000422777.3_Missense_Mutation_p.L302R|PROC_ENST00000234071.3_Missense_Mutation_p.L302R P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 302 Peptidase S1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) GACATCGCACTGCTGCACCTG 0.647000 14 54 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 132006597 132006597 + Missense_Mutation SNP G G A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr6:132006597G>A ENST00000414305.1 + 14 1542 c.1214G>A c.(1213-1215)cGc>cAc p.R405H ENPP3_ENST00000358229.5_Missense_Mutation_p.R405H|ENPP3_ENST00000357639.3_Missense_Mutation_p.R405H O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 405 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity p.R405L(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CCTGCCCCCCGCATCCGAGCT 0.378000 4 125 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCAC 0.624 8 108 --- --- --- --- RP11-19N8.4 0 broad.mit.edu 37 16 33070154 33070154 + RNA DEL C C - TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr16:33070154delC ENST00000561541.1 - 0 291 CCTATCACATCCCATTCCAGC 0.488 5 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578231 7578245 + In_Frame_Del DEL CAAATACTCCACACG CAAATACTCCACACG - rs142813240 TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:7578231_7578245delCAAATACTCCACACG ENST00000420246.2 - 6 736_750 c.604_618delCGTGTGGAGTATTTG c.(604-618)del p.RVEYL202del TP53_ENST00000269305.4_In_Frame_Del_p.RVEYL202del|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.RVEYL202del|TP53_ENST00000455263.2_In_Frame_Del_p.RVEYL202del|TP53_ENST00000413465.2_In_Frame_Del_p.RVEYL202del|TP53_ENST00000445888.2_In_Frame_Del_p.RVEYL202del NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 202 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. LR -> FC (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.Y205C(68)|p.E204*(33)|p.Y205S(14)|p.Y205D(13)|p.Y205F(8)|p.Y205N(8)|p.0?(8)|p.L206*(7)|p.V203E(6)|p.R202S(6)|p.Y205H(5)|p.Y73C(5)|p.?(5)|p.Y112C(5)|p.R202H(4)|p.L206fs*41(4)|p.R202C(4)|p.R202P(4)|p.E204D(4)|p.Y205*(4)|p.E111*(3)|p.V203fs*44(3)|p.V203L(3)|p.V203V(3)|p.R202L(3)|p.E204fs*5(3)|p.E72*(3)|p.V203M(2)|p.E204G(2)|p.Y73N(2)|p.Y112N(2)|p.E204fs*43(2)|p.E204E(2)|p.E204K(2)|p.V203fs*6(2)|p.V203A(1)|p.Y205fs*42(1)|p.?fs(1)|p.P191fs*6(1)|p.E204fs*4(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)|p.E72D(1)|p.R202G(1)|p.Y73S(1)|p.N200fs*4(1)|p.V203_E204>V*(1)|p.G199fs*42(1)|p.R202R(1)|p.Y205fs*43(1)|p.E204A(1)|p.L201_R202>FC(1)|p.R202fs*9(1)|p.R202fs*8(1)|p.V203_E204>LV(1)|p.R202fs*7(1)|p.Y112S(1)|p.L206F(1)|p.L206L(1)|p.E111D(1)|p.E204V(1)|p.E204Q(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) TTCTGTCATCCAAATACTCCACACGCAAATTTCCT 0.549 111 """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) 18 23 --- --- --- --- KRT40 125115 broad.mit.edu 37 17 39140333 39140334 + In_Frame_Ins INS - - AAAGTAGCATGGTTG TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr17:39140333_39140334insAAAGTAGCATGGTTG ENST00000377755.4 - 1 226_227 c.192_193insCAACCATGCTACTTT c.(190-195)ttctgg>ttCAACCATGCTACTTTctgg p.63_64insFNHAT KRT40_ENST00000398486.2_In_Frame_Ins_p.63_64insFNHAT Q6A162 K1C40_HUMAN keratin 40 63 Head. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) CAACTCCCAGTAAAGTAGCATG 0.545 11 180 --- --- --- --- KCTD1 284252 broad.mit.edu 37 18 24128223 24128225 + In_Frame_Del DEL TCC TCC - TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chr18:24128223_24128225delTCC ENST00000417602.1 - 1 275_277 c.276_278delGGA c.(274-279)gaa>ga p.EE94del KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 0 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) ctcctcctcttcctcctcctcct 0.655 2 4 --- --- --- --- HMGB3 3149 broad.mit.edu 37 X 150156315 150156316 + Frame_Shift_Ins INS - - A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c27adf9-c014-4362-a0e3-974f9522a393 938c2f93-5c8a-41fb-b2c4-3c501b059576 g.chrX:150156315_150156316insA ENST00000325307.7 + 5 627_628 c.531_532insA c.(529-534)cgaaaafs p.RK177fs HMGB3_ENST00000448905.2_Frame_Shift_Ins_p.RK177fs NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 177 DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) AAGTTGCCCGGAAAAaggtgga 0.446 50 24 --- --- --- ---