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 INTS10 55174 broad.mit.edu 37 8 19682476 19682476 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr8:19682476C>T ENST00000397977.3 + 8 1397 c.999C>T c.(997-999)ctC>ctT p.L333L NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 333 snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) AGCCATCTCTCTTCCAAGGTT 0.398000 3 52 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407424 105407424 + Missense_Mutation SNP C C G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr14:105407424C>G ENST00000333244.5 - 7 14483 c.14364G>C c.(14362-14364)gaG>gaC p.E4788D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4788 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTGTAACATCCTCACAGGGAG 0.498000 36 80 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5686409 5686409 + Nonsense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:5686409C>T ENST00000305836.5 - 8 1414 c.1112G>A c.(1111-1113)tGg>tAg p.W371* TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000380027.1_Intron Q9C035 TRIM5_HUMAN tripartite motif containing 5 371 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) CCCCAGGATCCAAGCAGTTTT 0.403000 7 210 0 0 1 0 0 ANKRD19P 0 broad.mit.edu 37 9 95599910 95599910 + RNA SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr9:95599910T>C ENST00000473204.1 + 0 1991 TTTGAACTTGTCGAACCAGAT 0.557000 3 63 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89259294 89259294 + Missense_Mutation SNP T T G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr3:89259294T>G ENST00000336596.2 + 3 663 c.438T>G c.(436-438)atT>atG p.I146M EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 146 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTGACACCATTGCAGCTGATG 0.418000 TSP Lung(6;0.00050) 10 207 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 4 49 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89180005 89180005 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr8:89180005C>T ENST00000286614.6 - 4 883 c.602G>A c.(601-603)gGa>gAa p.G201E MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 201 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TCCTCCCTCTCCATCAAAGGG 0.443000 36 75 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47108803 47108803 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr18:47108803G>A ENST00000261292.4 + 7 1386 c.1108G>A c.(1108-1110)Gtc>Atc p.V370I LIPG_ENST00000427224.2_Missense_Mutation_p.V296I NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 370 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 CACCTTTTACGTCACCCTTTA 0.448000 9 91 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 51 0 0 1 0 0 NOVA2 4858 broad.mit.edu 37 19 46457064 46457064 + Missense_Mutation SNP T T A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr19:46457064T>A ENST00000263257.5 - 3 564 c.370A>T c.(370-372)Acg>Tcg p.T124S NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 124 nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GGGTTCATCGTGGTTTGGGGT 0.527000 61 144 0 0 1 0 0 OSR1 130497 broad.mit.edu 37 2 19553372 19553372 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr2:19553372C>T ENST00000536433.1 - 1 3305 c.195G>A c.(193-195)ccG>ccA p.P65P OSR1_ENST00000272223.2_Silent_p.P65P Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 65 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) AAGAAGAGCGCGGCAAGTGCA 0.612000 5 57 0 0 1 0 0 PPARA 5465 broad.mit.edu 37 22 46611177 46611177 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr22:46611177G>A ENST00000396000.2 + 4 581 c.316G>A c.(316-318)Ggg>Agg p.G106R PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R|PPARA_ENST00000407236.1_Missense_Mutation_p.G106R Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 106 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) TAGAATCTGCGGGGACAAGGC 0.592000 4 52 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154941890 154941890 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:154941890C>T ENST00000448116.2 - 2 750 c.530G>A c.(529-531)cGt>cAt p.R177H SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 177 PID. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTCCAGGGCACGCATTGACTG 0.602000 6 35 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1348988 1348988 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr4:1348988A>G ENST00000389851.4 + 7 1578 c.1131A>G c.(1129-1131)aaA>aaG p.K377K UVSSA_ENST00000507531.1_Silent_p.K377K|UVSSA_ENST00000511216.1_Silent_p.K377K NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 377 TACTGAGAAAATACAAGGAGC 0.627000 16 21 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41005012 41005012 + Missense_Mutation SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr5:41005012T>C ENST00000399564.4 - 36 4325 c.3875A>G c.(3874-3876)gAa>gGa p.E1292G MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AAGGATTGGTTCCTTCATGAG 0.488000 7 60 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91667795 91667795 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr7:91667795A>G ENST00000359028.2 + 18 4662 c.4437A>G c.(4435-4437)ggA>ggG p.G1479G AKAP9_ENST00000356239.3_Silent_p.G1467G|AKAP9_ENST00000358100.2_Silent_p.G1479G Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1479 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATCTGGGGGAAAAGAAAATA 0.318000 T BRAF papillary thyroid 4 63 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16534595 16534595 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:16534595A>G ENST00000270747.3 - 3 674 c.538T>C c.(538-540)Ttg>Ctg p.L180L ARHGEF19_ENST00000421561.1_Silent_p.L180L NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 180 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GACCCAGACAACTCCACCCTG 0.667000 4 100 0 0 1 0 0 DLST 1743 broad.mit.edu 37 14 75367846 75367846 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr14:75367846G>A ENST00000334220.4 + 14 1198 c.1137G>A c.(1135-1137)tcG>tcA p.S379S DLST_ENST00000334212.6_Silent_p.S293S NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 379 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) TTTTTGGCTCGCTCTTTGGAA 0.488000 9 118 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66115187 66115187 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr6:66115187G>A ENST00000503581.1 - 6 1473 c.936C>T c.(934-936)agC>agT p.S312S EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 312 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 AAGCAGAACTGCTATTTGGGC 0.378000 10 131 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62739197 62739197 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:62739197C>T ENST00000371153.4 - 3 1957 c.1579G>A c.(1579-1581)Gac>Aac p.D527N KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 527 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GTCTTTCTGTCGCTGCCCCAC 0.602000 28 74 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33122333 33122333 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr19:33122333G>A ENST00000306065.4 - 13 1342 c.1184C>T c.(1183-1185)tCg>tTg p.S395L NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 395 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity p.S395L(1) breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) GGTGGGAGACGAAGTCATCTG 0.478000 23 104 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826812 143826812 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr7:143826812G>A ENST00000408899.2 + 1 662 c.607G>A c.(607-609)Gtg>Atg p.V203M NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) TGCAGCCTGCGTGTTCATCCT 0.577000 41 356 0 0 1 0 0 RAB12 201475 broad.mit.edu 37 18 8609872 8609872 + Silent SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr18:8609872C>A ENST00000329286.6 + 1 430 c.147C>A c.(145-147)ggC>ggA p.G49G NM_001025300.2 NP_001020471.2 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 49 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding p.G49G(1) breast(1)|lung(4)|prostate(1)|urinary_tract(1) 7 TCATTATCGGCTCCCGCGGCG 0.711000 5 29 3.59834e-05 3.80049e-05 1 1 0 BEST4 266675 broad.mit.edu 37 1 45253307 45253307 + Nonsense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:45253307C>T ENST00000372207.3 - 1 70 c.71G>A c.(70-72)tGg>tAg p.W24* NM_153274.2 NP_695006.1 Q8NFU0 BEST4_HUMAN bestrophin 4 24 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) GCTTCCCCTCCAGCGGAGAAG 0.572000 26 215 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123369870 123369870 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr6:123369870G>A ENST00000275162.4 + 4 2003 c.668G>A c.(667-669)cGg>cAg p.R223Q CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 223 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 GAGAAAACTCGGAAAAGGGTA 0.378000 4 81 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26702725 26702725 + Missense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:26702725C>A ENST00000396005.3 - 12 1661 c.1352G>T c.(1351-1353)tGg>tTg p.W451L NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 451 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 AATGGCCACCCAAAATGACAA 0.448000 3 35 0.004672 0.00482602 1 1 0 PTPRU 10076 broad.mit.edu 37 1 29644362 29644362 + Missense_Mutation SNP G G T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:29644362G>T ENST00000323874.8 + 26 3744 c.3634G>T c.(3634-3636)Gac>Tac p.D1212Y PTPRU_ENST00000373779.3_Missense_Mutation_p.D1206Y|PTPRU_ENST00000345512.3_Missense_Mutation_p.D1216Y|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1212Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1216 Tyrosine-protein phosphatase 2. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCTGCCGCCCGACCGCTGCCT 0.637000 17 90 1.99824e-07 2.15901e-07 1 1 0 FHOD1 29109 broad.mit.edu 37 16 67264087 67264087 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr16:67264087G>A ENST00000258201.4 - 20 3343 c.3096C>T c.(3094-3096)ccC>ccT p.P1032P FHOD1_ENST00000567687.1_Silent_p.P611P NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1032 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CTGGGACAGAGGGGTTGCTGG 0.597000 53 103 0 0 1 0 0 TPSB2 64499 broad.mit.edu 37 16 1278552 1278552 + RNA SNP A A T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr16:1278552A>T ENST00000430512.2 - 0 974 TPSB2_ENST00000339687.6_RNA NM_024164.5 NP_077078.5 P20231 TRYB2_HUMAN tryptase beta 2 (gene/pseudogene) proteolysis extracellular region protein binding|serine-type endopeptidase activity lung(1)|upper_aerodigestive_tract(1) 2 Hepatocellular(780;0.00369) GGGGCAGGGAAGGTGTGGGGG 0.647000 8 10 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163291905 163291905 + Missense_Mutation SNP C C A rs149070457 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr2:163291905C>A ENST00000332142.5 - 8 1856 c.1757G>T c.(1756-1758)gGa>gTa p.G586V KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 586 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.G586E(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ATCCAACCATCCGATTTTGTC 0.433000 5 136 0.184627 0.184627 1 1 0 OR6N2 81442 broad.mit.edu 37 1 158746588 158746588 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:158746588C>T ENST00000339258.1 - 1 837 c.838G>A c.(838-840)Gta>Ata p.V280I NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V280I(1) endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GGTGTTAGTACGGAGTAAACT 0.423000 8 117 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87423858 87423858 + Missense_Mutation SNP T T G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr8:87423858T>G ENST00000517970.1 + 9 1123 c.816T>G c.(814-816)aaT>aaG p.N272K WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 272 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 TGTCTCCAAATTGCACTAGTA 0.413000 30 55 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167133601 167133601 + Silent SNP G G A rs142070305 by1000genomes TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr2:167133601G>A ENST00000375387.4 - 16 3109 c.2769C>T c.(2767-2769)cgC>cgT p.R923R SCN9A_ENST00000303354.6_Silent_p.R923R|SCN9A_ENST00000409672.1_Silent_p.R911R|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.R922R Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 922 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CACACAGCACGCGGAACACAA 0.483000 28 276 0 0 1 0 0 MYL5 4636 broad.mit.edu 37 4 673714 673714 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr4:673714G>A ENST00000506838.1 + 5 2600 c.76G>A c.(76-78)Gtc>Atc p.V26I MYL5_ENST00000511290.1_Missense_Mutation_p.V26I|MYL5_ENST00000400159.2_Missense_Mutation_p.V67I|MYL5_ENST00000505477.1_Missense_Mutation_p.V26I Q02045 MYL5_HUMAN myosin, light chain 5, regulatory 67 regulation of muscle contraction muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(1)|kidney(1)|lung(1) 3 CAAGACCAACGTCAAGGACGA 0.607000 37 58 0 0 1 0 0 ANXA11 311 broad.mit.edu 37 10 81917453 81917453 + Missense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr10:81917453C>A ENST00000438331.1 - 16 1884 c.1402G>T c.(1402-1404)Gac>Tac p.D468Y ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 468 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GATCTGATGTCCAGGAGGTCG 0.577000 7 93 0.0293803 0.030019 1 1 0 MYH2 4620 broad.mit.edu 37 17 10432357 10432357 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr17:10432357G>A ENST00000245503.5 - 27 3778 c.3394C>T c.(3394-3396)Cgg>Tgg p.R1132W MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1132 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CGGGAGGCCCGCTCTGCCTCG 0.602000 52 107 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95862991 95862991 + Silent SNP G G C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr13:95862991G>C ENST00000376887.4 - 5 690 c.576C>G c.(574-576)ggC>ggG p.G192G ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000412704.1_Silent_p.G192G NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 192 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TGACTATCTGGCCTGTGGTTG 0.438000 6 42 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048227 6048227 + Silent SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:6048227T>C ENST00000316650.5 - 1 744 c.708A>G c.(706-708)aaA>aaG p.K236K NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCCTCTGCTTTGAATCTAA 0.488000 37 51 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134734 128134734 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr6:128134734G>A ENST00000368250.1 - 5 1313 c.815C>T c.(814-816)aCg>aTg p.T272M THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M|THEMIS_ENST00000368248.2_Missense_Mutation_p.T351M Q8N1K5 THMS1_HUMAN thymocyte selection associated 351 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 GTCATAGGCCGTTGGGAACTC 0.473000 16 144 0 0 1 0 0 LPO 0 broad.mit.edu 37 17 56343598 56343598 + Missense_Mutation SNP G G A rs144914036 byFrequency TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr17:56343598G>A ENST00000262290.4 + 11 1920 c.1604G>A c.(1603-1605)cGc>cAc p.R535H LPO_ENST00000421678.2_Missense_Mutation_p.R452H|LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000543544.1_Missense_Mutation_p.R476H NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 535 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.R535H(1) breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGAGAGCTGCGCAACAAGCTT 0.547000 6 70 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33581376 33581376 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:33581376G>A ENST00000321505.4 + 6 3226 c.3046G>A c.(3046-3048)Gtc>Atc p.V1016I KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I KIAA1549-like CAACGGCACCGTCGCCAGCAG 0.567000 15 219 0 0 1 0 0 CHD6 0 broad.mit.edu 37 20 40192693 40192693 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr20:40192693G>A ENST00000373222.3 - 2 133 c.95C>T c.(94-96)aCg>aTg p.T32M CHD6_ENST00000373233.3_Intron|CHD6_ENST00000309279.7_Intron Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2343 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) gaacacaagcgttgtgggatt 0.408000 10 29 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026830 37026830 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chrX:37026830C>T ENST00000358047.3 + 1 399 c.347C>T c.(346-348)gCg>gTg p.A116V NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 116 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GCACGGAAGGCGTTCGTAGAG 0.547000 22 77 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133925308 133925308 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr8:133925308C>T ENST00000220616.4 + 20 4216 c.4176C>T c.(4174-4176)ggC>ggT p.G1392G TG_ENST00000377869.1_Silent_p.G1392G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1392 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCTTGGTGGGCAAGGATCTCC 0.557000 27 43 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45846600 45846600 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr21:45846600G>A ENST00000397928.1 + 26 4298 c.3853G>A c.(3853-3855)Gcc>Acc p.A1285T TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1285 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GGACGCGGCCGCCATGGACCC 0.592000 6 141 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216500 10216500 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr17:10216500G>A ENST00000418404.3 - 29 4319 c.4156C>T c.(4156-4158)Cgc>Tgc p.R1386C MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C|MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1386 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 TCCTCTGTGCGCTGAATGGCG 0.617000 9 274 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157666077 157666077 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:157666077G>A ENST00000368184.3 - 7 1176 c.885C>T c.(883-885)acC>acT p.T295T RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.T295T|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 295 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity p.T295T(1) autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GCTGCCCTCCGGTGGGCCGGA 0.517000 16 157 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47776029 47776029 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr6:47776029C>T ENST00000489301.2 + 5 981 c.896C>T c.(895-897)gCg>gTg p.A299V OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.A299V|OPN5_ENST00000393699.2_Missense_Mutation_p.A299V Q6U736 OPN5_HUMAN opsin 5 299 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 AAATCTGCAGCGATGTACAAT 0.453000 58 129 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518488 113518488 + Nonsense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr7:113518488C>A ENST00000284601.3 - 4 2727 c.2659G>T c.(2659-2661)Gaa>Taa p.E887* NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 887 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTGATAATTCTTGAACCTGC 0.363000 5 96 0.184627 0.184627 1 1 0 MAGI3 260425 broad.mit.edu 37 1 114201721 114201721 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:114201721C>T ENST00000369615.1 + 16 2711 c.2649C>T c.(2647-2649)ggC>ggT p.G883G MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 908 Interaction with LPAR2 and GRIN2B.|PDZ 5. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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) ATAAAATTGGCCGAGTCATAG 0.378000 4 111 0 0 1 0 0 HNRNPD 3184 broad.mit.edu 37 4 83280638 83280638 + Nonsense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr4:83280638C>A ENST00000313899.7 - 3 722 c.445G>T c.(445-447)Gag>Tag p.E149* HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*|HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 149 RRM 1. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 TCTACACTCTCCGATTCTTTA 0.358000 11 96 4.3838e-07 4.6827e-07 1 1 0 SCN11A 11280 broad.mit.edu 37 3 38962717 38962717 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr3:38962717G>A ENST00000450244.1 - 6 940 c.742C>T c.(742-744)Cgc>Tgc p.R248C SCN11A_ENST00000302328.3_Missense_Mutation_p.R248C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 248 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTCACAGAGCGTAGCAAGGCC 0.537000 8 221 0 0 1 0 0 CERK 64781 broad.mit.edu 37 22 47095220 47095220 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr22:47095220G>A ENST00000216264.8 - 8 1045 c.933C>T c.(931-933)taC>taT p.Y311Y CERK_ENST00000541677.1_Silent_p.Y113Y NM_022766.5 NP_073603.2 Q8TCT0 CERK1_HUMAN ceramide kinase 311 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 20 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) CTGAAAAGTCGTATCTGGCAA 0.552000 17 127 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27169828 27169828 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr2:27169828G>A ENST00000288699.6 + 13 1818 c.1660G>A c.(1660-1662)Gct>Act p.A554T DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 554 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCGGATCCTCGCTCCTCCCGG 0.617000 10 37 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13423557 13423557 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr19:13423557C>T ENST00000360228.5 - 12 1593 c.1594G>A c.(1594-1596)Gaa>Aaa p.E532K CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 533 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.E533K(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) ATAAACATTTCGGACATAAAG 0.458000 4 64 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925416 4925416 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chrY:4925416G>A ENST00000333703.4 + 4 1032 c.519G>A c.(517-519)tcG>tcA p.S173S PCDH11Y_ENST00000215473.6_Silent_p.S184S|PCDH11Y_ENST00000362095.5_Silent_p.S184S NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 184 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CAGAGAACTCGGCTATAAACT 0.363000 5 45 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 5 51 0 0 1 0 0 SLAMF6 114836 broad.mit.edu 37 1 160466146 160466146 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:160466146C>T ENST00000368059.3 - 2 156 c.87G>A c.(85-87)atG>atA p.M29I SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 29 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TCCCGTTCACCATCAATGGGG 0.458000 8 283 0 0 1 0 0 SPRR1A 6698 broad.mit.edu 37 1 152957847 152957847 + Missense_Mutation SNP G G T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:152957847G>T ENST00000307122.2 + 2 205 c.141G>T c.(139-141)gaG>gaT p.E47D SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D NM_001199828.1|NM_005987.3 NP_001186757.1|NP_005978.2 P35321 SPR1A_HUMAN small proline-rich protein 1A 47 6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1) 7 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGGTGCCTGAGCCCTGCCACC 0.642000 21 250 2.4624e-09 2.69146e-09 1 1 0 ADAM23 8745 broad.mit.edu 37 2 207435477 207435477 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr2:207435477C>T ENST00000264377.3 + 16 1836 c.1508C>T c.(1507-1509)aCg>aTg p.T503M ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M|ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 503 Disintegrin. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TTTGAGCCCACGGAATGTGGA 0.418000 7 51 0 0 1 0 0 CSF2RA 0 broad.mit.edu 37 X 1401455 1401455 + Splice_Site SNP T T G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chrX:1401455T>G ENST00000432318.2 + 3 296 c.e3+2 CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000381524.3_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000381509.3_Intron NM_001161529.1 NP_001155001.1 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TTTGACCAGGTCAGCGGCTGA 0.557000 18 34 0 0 1 0 0 TNF 7124 broad.mit.edu 37 6 31544556 31544556 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr6:31544556G>A ENST00000449264.2 + 3 420 c.245G>A c.(244-246)cGa>cAa p.R82Q NM_000594.3 NP_000585.2 P01375 TNFA_HUMAN tumor necrosis factor 82 activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) TCATCTTCTCGAACCCCGAGT 0.502000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 16 201 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30867973 30867973 + Missense_Mutation SNP T T A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr12:30867973T>A ENST00000251071.5 - 15 3320 c.2570A>T c.(2569-2571)aAt>aTt p.N857I CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 857 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCCCCGGCTATTGACAAATGG 0.438000 4 135 0 0 1 0 0 GGN 199720 broad.mit.edu 37 19 38876987 38876987 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr19:38876987A>G ENST00000334928.6 - 3 1047 c.915T>C c.(913-915)gtT>gtC p.V305V GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 305 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCCCTCGAGAAACCTCTCCCA 0.697000 4 39 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 3 56 0 0 1 0 0 PLIN5 440503 broad.mit.edu 37 19 4529255 4529255 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr19:4529255G>A ENST00000381848.3 - 5 430 c.350C>T c.(349-351)tCa>tTa p.S117L CTB-50L17.14_ENST00000586020.1_3'UTR NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 117 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 GTCCTTGGCTGAGGTCACCAC 0.667000 9 137 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773444 145773444 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr8:145773444G>A ENST00000276826.5 - 4 1227 c.1026C>T c.(1024-1026)gcC>gcT p.A342A ARHGAP39_ENST00000540274.1_Silent_p.A342A|ARHGAP39_ENST00000377307.2_Silent_p.A342A Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 342 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GGGGAGAGCCGGCCTGGTAGC 0.706000 7 63 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44700525 44700525 + Missense_Mutation SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr3:44700525T>C ENST00000396056.2 + 4 905 c.670T>C c.(670-672)Tgt>Cgt p.C224R RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 224 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) GCCTTTTACGTGTAGCGTGTG 0.428000 7 131 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79792152 79792152 + Nonsense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr4:79792152C>T ENST00000335016.5 + 11 1613 c.1447C>T c.(1447-1449)Cag>Tag p.Q483* BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483* NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 483 Gln/His-rich. Missing (in Ref. 2; CAB70863). nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 gcagcagcagcagcagcagca 0.507000 6 62 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890607 229890607 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr2:229890607C>T ENST00000392054.3 - 4 827 c.488G>A c.(487-489)cGc>cAc p.R163H PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000392055.3_Missense_Mutation_p.R132H|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.R165H NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 165 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) GTAGGCGATGCGGGCCACCTG 0.582000 6 145 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52255490 52255490 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr3:52255490G>A ENST00000597542.1 - 9 3871 c.2914C>T c.(2914-2916)Cgc>Tgc p.R972C TLR9_ENST00000360658.2_Missense_Mutation_p.R948C|TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V Q9NR96 TLR9_HUMAN toll-like receptor 9 948 TIR. defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) AAGCTGGCGCGCAAGAGACCA 0.662000 4 110 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579425 44579425 + Missense_Mutation SNP C C T rs146842539 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr7:44579425C>T ENST00000289547.4 - 2 626 c.571G>A c.(571-573)Gtg>Atg p.V191M NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 191 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GAGCCATACACGCCACACATG 0.612000 5 98 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26586841 26586841 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:26586841C>T ENST00000436318.2 - 2 779 c.646G>A c.(646-648)Gga>Aga p.G216R MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R Q8N387 MUC15_HUMAN mucin 15, cell surface associated 189 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 GTAAGCCATCCACTTGGTTCC 0.413000 7 107 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90160995 90160995 + RNA SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr16:90160995C>T ENST00000564451.1 + 0 894 TUBB8P7_ENST00000567960.1_RNA p.S75S(1) CCATGGACTCCGTGCGCTCGG 0.692000 20 145 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5038194 5038194 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr16:5038194G>A ENST00000251170.7 + 4 438 c.258G>A c.(256-258)ttG>ttA p.L86L NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 86 PRELI/MSF1. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CAAACATCTTGAACTGGAAGG 0.622000 18 35 0 0 1 0 0 STRIP1 85369 broad.mit.edu 37 1 110592992 110592992 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:110592992C>T ENST00000369795.3 + 18 1939 c.1917C>T c.(1915-1917)tgC>tgT p.C639C STRIP1_ENST00000369796.1_Silent_p.C544C NM_033088.2 NP_149079.2 striatin interacting protein 1 ACCCTCACTGCGTGGTGCATG 0.612000 6 60 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123456319 123456319 + Silent SNP G G T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr3:123456319G>T ENST00000360772.3 - 9 1038 c.660C>A c.(658-660)atC>atA p.I220I MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I Q15746 MYLK_HUMAN myosin light chain kinase 220 Ig-like C2-type 2. 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) TGACTCCATGGATTTCCAGAA 0.547000 9 218 1.04858e-14 1.17341e-14 1 1 0 INTS10 55174 broad.mit.edu 37 8 19682476 19682476 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr8:19682476C>T ENST00000397977.3 + 8 1397 c.999C>T c.(997-999)ctC>ctT p.L333L NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 333 snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) AGCCATCTCTCTTCCAAGGTT 0.398000 3 52 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407424 105407424 + Missense_Mutation SNP C C G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr14:105407424C>G ENST00000333244.5 - 7 14483 c.14364G>C c.(14362-14364)gaG>gaC p.E4788D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4788 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTGTAACATCCTCACAGGGAG 0.498000 36 80 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5686409 5686409 + Nonsense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr11:5686409C>T ENST00000305836.5 - 8 1414 c.1112G>A c.(1111-1113)tGg>tAg p.W371* TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Intron Q9C035 TRIM5_HUMAN tripartite motif containing 5 371 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) CCCCAGGATCCAAGCAGTTTT 0.403000 7 210 0 0 1 0 0 ANKRD19P 0 broad.mit.edu 37 9 95599910 95599910 + RNA SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr9:95599910T>C ENST00000473204.1 + 0 1991 TTTGAACTTGTCGAACCAGAT 0.557000 3 63 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89259294 89259294 + Missense_Mutation SNP T T G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr3:89259294T>G ENST00000336596.2 + 3 663 c.438T>G c.(436-438)atT>atG p.I146M EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 146 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTGACACCATTGCAGCTGATG 0.418000 TSP Lung(6;0.00050) 10 207 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89180005 89180005 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr8:89180005C>T ENST00000286614.6 - 4 883 c.602G>A c.(601-603)gGa>gAa p.G201E MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 201 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TCCTCCCTCTCCATCAAAGGG 0.443000 36 75 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47108803 47108803 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr18:47108803G>A ENST00000261292.4 + 7 1386 c.1108G>A c.(1108-1110)Gtc>Atc p.V370I LIPG_ENST00000427224.2_Missense_Mutation_p.V296I NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 370 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 CACCTTTTACGTCACCCTTTA 0.448000 9 91 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 51 0 0 1 0 0 NOVA2 4858 broad.mit.edu 37 19 46457064 46457064 + Missense_Mutation SNP T T A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr19:46457064T>A ENST00000263257.5 - 3 564 c.370A>T c.(370-372)Acg>Tcg p.T124S NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 124 nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GGGTTCATCGTGGTTTGGGGT 0.527000 61 144 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26702725 26702725 + Missense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr11:26702725C>A ENST00000396005.3 - 12 1661 c.1352G>T c.(1351-1353)tGg>tTg p.W451L NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 451 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 AATGGCCACCCAAAATGACAA 0.448000 3 35 0.004672 0.00483689 1 1 0 OSR1 130497 broad.mit.edu 37 2 19553372 19553372 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr2:19553372C>T ENST00000536433.1 - 1 3305 c.195G>A c.(193-195)ccG>ccA p.P65P OSR1_ENST00000272223.2_Silent_p.P65P Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 65 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) AAGAAGAGCGCGGCAAGTGCA 0.612000 5 57 0 0 1 0 0 PPARA 5465 broad.mit.edu 37 22 46611177 46611177 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr22:46611177G>A ENST00000396000.2 + 4 581 c.316G>A c.(316-318)Ggg>Agg p.G106R PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R|PPARA_ENST00000407236.1_Missense_Mutation_p.G106R Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 106 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) TAGAATCTGCGGGGACAAGGC 0.592000 4 52 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154941890 154941890 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:154941890C>T ENST00000448116.2 - 2 750 c.530G>A c.(529-531)cGt>cAt p.R177H SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 177 PID. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTCCAGGGCACGCATTGACTG 0.602000 6 35 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1348988 1348988 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr4:1348988A>G ENST00000389851.4 + 7 1578 c.1131A>G c.(1129-1131)aaA>aaG p.K377K UVSSA_ENST00000511216.1_Silent_p.K377K|UVSSA_ENST00000507531.1_Silent_p.K377K NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 377 TACTGAGAAAATACAAGGAGC 0.627000 16 21 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41005012 41005012 + Missense_Mutation SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr5:41005012T>C ENST00000399564.4 - 36 4325 c.3875A>G c.(3874-3876)gAa>gGa p.E1292G MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AAGGATTGGTTCCTTCATGAG 0.488000 7 60 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91667795 91667795 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr7:91667795A>G ENST00000359028.2 + 18 4662 c.4437A>G c.(4435-4437)ggA>ggG p.G1479G AKAP9_ENST00000358100.2_Silent_p.G1479G|AKAP9_ENST00000356239.3_Silent_p.G1467G Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1479 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATCTGGGGGAAAAGAAAATA 0.318000 T BRAF papillary thyroid 4 63 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16534595 16534595 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:16534595A>G ENST00000270747.3 - 3 674 c.538T>C c.(538-540)Ttg>Ctg p.L180L ARHGEF19_ENST00000421561.1_Silent_p.L180L NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 180 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GACCCAGACAACTCCACCCTG 0.667000 4 100 0 0 1 0 0 DLST 1743 broad.mit.edu 37 14 75367846 75367846 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr14:75367846G>A ENST00000334220.4 + 14 1198 c.1137G>A c.(1135-1137)tcG>tcA p.S379S DLST_ENST00000334212.6_Silent_p.S293S NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 379 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) TTTTTGGCTCGCTCTTTGGAA 0.488000 9 118 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66115187 66115187 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr6:66115187G>A ENST00000503581.1 - 6 1473 c.936C>T c.(934-936)agC>agT p.S312S EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 312 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 AAGCAGAACTGCTATTTGGGC 0.378000 10 131 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62739197 62739197 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:62739197C>T ENST00000371153.4 - 3 1957 c.1579G>A c.(1579-1581)Gac>Aac p.D527N KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 527 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GTCTTTCTGTCGCTGCCCCAC 0.602000 28 74 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33122333 33122333 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr19:33122333G>A ENST00000306065.4 - 13 1342 c.1184C>T c.(1183-1185)tCg>tTg p.S395L NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 395 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity p.S395L(1) breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) GGTGGGAGACGAAGTCATCTG 0.478000 23 104 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826812 143826812 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr7:143826812G>A ENST00000408899.2 + 1 662 c.607G>A c.(607-609)Gtg>Atg p.V203M NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) TGCAGCCTGCGTGTTCATCCT 0.577000 41 356 0 0 1 0 0 RAB12 201475 broad.mit.edu 37 18 8609872 8609872 + Silent SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr18:8609872C>A ENST00000329286.6 + 1 430 c.147C>A c.(145-147)ggC>ggA p.G49G NM_001025300.2 NP_001020471.2 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 49 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding p.G49G(1) breast(1)|lung(4)|prostate(1)|urinary_tract(1) 7 TCATTATCGGCTCCCGCGGCG 0.711000 5 29 3.59834e-05 3.76969e-05 1 1 0 BEST4 266675 broad.mit.edu 37 1 45253307 45253307 + Nonsense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:45253307C>T ENST00000372207.3 - 1 70 c.71G>A c.(70-72)tGg>tAg p.W24* NM_153274.2 NP_695006.1 Q8NFU0 BEST4_HUMAN bestrophin 4 24 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) GCTTCCCCTCCAGCGGAGAAG 0.572000 26 215 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123369870 123369870 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr6:123369870G>A ENST00000275162.4 + 4 2003 c.668G>A c.(667-669)cGg>cAg p.R223Q CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 223 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 GAGAAAACTCGGAAAAGGGTA 0.378000 4 81 0 0 1 0 0 RP11-14N7.2 0 broad.mit.edu 37 1 148933289 148933289 + RNA SNP A A G rs9729175 by1000genomes TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:148933289A>G ENST00000539543.1 + 0 176 NR_027355.1 TGCTGCCCGCAGGATATTGTG 0.562000 3 15 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29644362 29644362 + Missense_Mutation SNP G G T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:29644362G>T ENST00000373779.3 + 25 3745 c.3616G>T c.(3616-3618)Gac>Tac p.D1206Y PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000345512.3_Missense_Mutation_p.D1216Y|PTPRU_ENST00000323874.8_Missense_Mutation_p.D1212Y|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1212Y NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1216 Tyrosine-protein phosphatase 2. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCTGCCGCCCGACCGCTGCCT 0.637000 17 90 1.99824e-07 2.17092e-07 1 1 0 FHOD1 29109 broad.mit.edu 37 16 67264087 67264087 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr16:67264087G>A ENST00000258201.4 - 20 3343 c.3096C>T c.(3094-3096)ccC>ccT p.P1032P FHOD1_ENST00000567687.1_Silent_p.P611P NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1032 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CTGGGACAGAGGGGTTGCTGG 0.597000 53 103 0 0 1 0 0 TPSB2 64499 broad.mit.edu 37 16 1278552 1278552 + RNA SNP A A T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr16:1278552A>T ENST00000430512.2 - 0 974 TPSB2_ENST00000339687.6_RNA NM_024164.5 NP_077078.5 P20231 TRYB2_HUMAN tryptase beta 2 (gene/pseudogene) proteolysis extracellular region protein binding|serine-type endopeptidase activity lung(1)|upper_aerodigestive_tract(1) 2 Hepatocellular(780;0.00369) GGGGCAGGGAAGGTGTGGGGG 0.647000 8 10 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163291905 163291905 + Missense_Mutation SNP C C A rs149070457 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr2:163291905C>A ENST00000332142.5 - 8 1856 c.1757G>T c.(1756-1758)gGa>gTa p.G586V KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 586 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.G586E(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ATCCAACCATCCGATTTTGTC 0.433000 5 136 0.184627 0.184627 1 1 0 WWP1 11059 broad.mit.edu 37 8 87423858 87423858 + Missense_Mutation SNP T T G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr8:87423858T>G ENST00000517970.1 + 9 1123 c.816T>G c.(814-816)aaT>aaG p.N272K WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 272 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 TGTCTCCAAATTGCACTAGTA 0.413000 30 55 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167133601 167133601 + Silent SNP G G A rs142070305 by1000genomes TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr2:167133601G>A ENST00000303354.6 - 16 3109 c.2769C>T c.(2767-2769)cgC>cgT p.R923R AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.R922R|SCN9A_ENST00000409672.1_Silent_p.R911R|SCN9A_ENST00000375387.4_Silent_p.R923R Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 922 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CACACAGCACGCGGAACACAA 0.483000 28 276 0 0 1 0 0 MYL5 4636 broad.mit.edu 37 4 673714 673714 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr4:673714G>A ENST00000506838.1 + 5 2600 c.76G>A c.(76-78)Gtc>Atc p.V26I MYL5_ENST00000511290.1_Missense_Mutation_p.V26I|MYL5_ENST00000400159.2_Missense_Mutation_p.V67I|MYL5_ENST00000505477.1_Missense_Mutation_p.V26I Q02045 MYL5_HUMAN myosin, light chain 5, regulatory 67 regulation of muscle contraction muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(1)|kidney(1)|lung(1) 3 CAAGACCAACGTCAAGGACGA 0.607000 37 58 0 0 1 0 0 ANXA11 311 broad.mit.edu 37 10 81917453 81917453 + Missense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr10:81917453C>A ENST00000438331.1 - 16 1884 c.1402G>T c.(1402-1404)Gac>Tac p.D468Y ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 468 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GATCTGATGTCCAGGAGGTCG 0.577000 7 93 0.0293803 0.0300636 1 1 0 MYH2 4620 broad.mit.edu 37 17 10432357 10432357 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr17:10432357G>A ENST00000245503.5 - 27 3778 c.3394C>T c.(3394-3396)Cgg>Tgg p.R1132W CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1132 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CGGGAGGCCCGCTCTGCCTCG 0.602000 52 107 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95862991 95862991 + Silent SNP G G C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr13:95862991G>C ENST00000376887.4 - 5 690 c.576C>G c.(574-576)ggC>ggG p.G192G ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 192 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TGACTATCTGGCCTGTGGTTG 0.438000 6 42 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048227 6048227 + Silent SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr11:6048227T>C ENST00000316650.5 - 1 744 c.708A>G c.(706-708)aaA>aaG p.K236K NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCCTCTGCTTTGAATCTAA 0.488000 37 51 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134734 128134734 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr6:128134734G>A ENST00000368250.1 - 5 1313 c.815C>T c.(814-816)aCg>aTg p.T272M THEMIS_ENST00000368248.2_Missense_Mutation_p.T351M|THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M Q8N1K5 THMS1_HUMAN thymocyte selection associated 351 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 GTCATAGGCCGTTGGGAACTC 0.473000 16 144 0 0 1 0 0 LPO 0 broad.mit.edu 37 17 56343598 56343598 + Missense_Mutation SNP G G A rs144914036 byFrequency TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr17:56343598G>A ENST00000262290.4 + 11 1920 c.1604G>A c.(1603-1605)cGc>cAc p.R535H LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000421678.2_Missense_Mutation_p.R452H|LPO_ENST00000543544.1_Missense_Mutation_p.R476H NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 535 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.R535H(1) breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGAGAGCTGCGCAACAAGCTT 0.547000 6 70 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33581376 33581376 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr11:33581376G>A ENST00000321505.4 + 6 3226 c.3046G>A c.(3046-3048)Gtc>Atc p.V1016I KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I KIAA1549-like CAACGGCACCGTCGCCAGCAG 0.567000 15 219 0 0 1 0 0 CHD6 0 broad.mit.edu 37 20 40192693 40192693 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr20:40192693G>A ENST00000373222.3 - 2 133 c.95C>T c.(94-96)aCg>aTg p.T32M CHD6_ENST00000373233.3_Intron|CHD6_ENST00000309279.7_Intron Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2343 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) gaacacaagcgttgtgggatt 0.408000 10 29 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133925308 133925308 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr8:133925308C>T ENST00000220616.4 + 20 4216 c.4176C>T c.(4174-4176)ggC>ggT p.G1392G TG_ENST00000377869.1_Silent_p.G1392G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1392 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCTTGGTGGGCAAGGATCTCC 0.557000 27 43 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45846600 45846600 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr21:45846600G>A ENST00000397928.1 + 26 4298 c.3853G>A c.(3853-3855)Gcc>Acc p.A1285T TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1285 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GGACGCGGCCGCCATGGACCC 0.592000 6 141 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216500 10216500 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr17:10216500G>A ENST00000418404.3 - 29 4319 c.4156C>T c.(4156-4158)Cgc>Tgc p.R1386C MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1386 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 TCCTCTGTGCGCTGAATGGCG 0.617000 9 274 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157666077 157666077 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:157666077G>A ENST00000368184.3 - 7 1176 c.885C>T c.(883-885)acC>acT p.T295T FCRL3_ENST00000368186.5_Silent_p.T295T|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 295 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity p.T295T(1) autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GCTGCCCTCCGGTGGGCCGGA 0.517000 16 157 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026830 37026830 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chrX:37026830C>T ENST00000358047.3 + 1 399 c.347C>T c.(346-348)gCg>gTg p.A116V NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 116 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GCACGGAAGGCGTTCGTAGAG 0.547000 22 77 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518488 113518488 + Nonsense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr7:113518488C>A ENST00000284601.3 - 4 2727 c.2659G>T c.(2659-2661)Gaa>Taa p.E887* NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 887 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTGATAATTCTTGAACCTGC 0.363000 5 96 0.184627 0.184627 1 1 0 OR6N2 81442 broad.mit.edu 37 1 158746588 158746588 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:158746588C>T ENST00000339258.1 - 1 837 c.838G>A c.(838-840)Gta>Ata p.V280I NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V280I(1) endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GGTGTTAGTACGGAGTAAACT 0.423000 8 117 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114201721 114201721 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:114201721C>T ENST00000369615.1 + 16 2711 c.2649C>T c.(2647-2649)ggC>ggT p.G883G MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000369611.4_Silent_p.G883G NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 908 Interaction with LPAR2 and GRIN2B.|PDZ 5. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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) ATAAAATTGGCCGAGTCATAG 0.378000 4 111 0 0 1 0 0 HNRNPD 3184 broad.mit.edu 37 4 83280638 83280638 + Nonsense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr4:83280638C>A ENST00000313899.7 - 3 722 c.445G>T c.(445-447)Gag>Tag p.E149* HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130* NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 149 RRM 1. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 TCTACACTCTCCGATTCTTTA 0.358000 11 96 4.3838e-07 4.70457e-07 1 1 0 SCN11A 11280 broad.mit.edu 37 3 38962717 38962717 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr3:38962717G>A ENST00000302328.3 - 6 940 c.742C>T c.(742-744)Cgc>Tgc p.R248C SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R248C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 248 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTCACAGAGCGTAGCAAGGCC 0.537000 8 221 0 0 1 0 0 CERK 64781 broad.mit.edu 37 22 47095220 47095220 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr22:47095220G>A ENST00000216264.8 - 8 1045 c.933C>T c.(931-933)taC>taT p.Y311Y CERK_ENST00000541677.1_Silent_p.Y113Y NM_022766.5 NP_073603.2 Q8TCT0 CERK1_HUMAN ceramide kinase 311 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 20 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) CTGAAAAGTCGTATCTGGCAA 0.552000 17 127 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27169828 27169828 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr2:27169828G>A ENST00000288699.6 + 13 1818 c.1660G>A c.(1660-1662)Gct>Act p.A554T DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 554 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCGGATCCTCGCTCCTCCCGG 0.617000 10 37 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13423557 13423557 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr19:13423557C>T ENST00000360228.5 - 12 1593 c.1594G>A c.(1594-1596)Gaa>Aaa p.E532K CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 533 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.E533K(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) ATAAACATTTCGGACATAAAG 0.458000 4 64 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925416 4925416 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chrY:4925416G>A ENST00000333703.4 + 4 1032 c.519G>A c.(517-519)tcG>tcA p.S173S PCDH11Y_ENST00000215473.6_Silent_p.S184S|PCDH11Y_ENST00000362095.5_Silent_p.S184S NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 184 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CAGAGAACTCGGCTATAAACT 0.363000 5 45 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47776029 47776029 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr6:47776029C>T ENST00000489301.2 + 5 981 c.896C>T c.(895-897)gCg>gTg p.A299V OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.A299V|OPN5_ENST00000393699.2_Missense_Mutation_p.A299V Q6U736 OPN5_HUMAN opsin 5 299 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 AAATCTGCAGCGATGTACAAT 0.453000 58 129 0 0 1 0 0 SLAMF6 114836 broad.mit.edu 37 1 160466146 160466146 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:160466146C>T ENST00000368059.3 - 2 156 c.87G>A c.(85-87)atG>atA p.M29I SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 29 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TCCCGTTCACCATCAATGGGG 0.458000 8 283 0 0 1 0 0 SPRR1A 6698 broad.mit.edu 37 1 152957847 152957847 + Missense_Mutation SNP G G T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:152957847G>T ENST00000307122.2 + 2 205 c.141G>T c.(139-141)gaG>gaT p.E47D SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D NM_001199828.1|NM_005987.3 NP_001186757.1|NP_005978.2 P35321 SPR1A_HUMAN small proline-rich protein 1A 47 6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1) 7 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGGTGCCTGAGCCCTGCCACC 0.642000 21 250 2.4624e-09 2.70864e-09 1 1 0 ADAM23 8745 broad.mit.edu 37 2 207435477 207435477 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr2:207435477C>T ENST00000264377.3 + 16 1836 c.1508C>T c.(1507-1509)aCg>aTg p.T503M ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M|ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 503 Disintegrin. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TTTGAGCCCACGGAATGTGGA 0.418000 7 51 0 0 1 0 0 CSF2RA 0 broad.mit.edu 37 X 1401455 1401455 + Splice_Site SNP T T G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chrX:1401455T>G ENST00000432318.2 + 3 296 c.e3+2 CSF2RA_ENST00000381509.3_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381524.3_Intron NM_001161529.1 NP_001155001.1 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TTTGACCAGGTCAGCGGCTGA 0.557000 18 34 0 0 1 0 0 TNF 7124 broad.mit.edu 37 6 31544556 31544556 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr6:31544556G>A ENST00000449264.2 + 3 420 c.245G>A c.(244-246)cGa>cAa p.R82Q NM_000594.3 NP_000585.2 P01375 TNFA_HUMAN tumor necrosis factor 82 activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) TCATCTTCTCGAACCCCGAGT 0.502000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 16 201 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30867973 30867973 + Missense_Mutation SNP T T A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr12:30867973T>A ENST00000251071.5 - 15 3320 c.2570A>T c.(2569-2571)aAt>aTt p.N857I CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 857 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCCCCGGCTATTGACAAATGG 0.438000 4 135 0 0 1 0 0 GGN 199720 broad.mit.edu 37 19 38876987 38876987 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr19:38876987A>G ENST00000334928.6 - 3 1047 c.915T>C c.(913-915)gtT>gtC p.V305V AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 305 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCCCTCGAGAAACCTCTCCCA 0.697000 4 39 0 0 1 0 0 PLIN5 440503 broad.mit.edu 37 19 4529255 4529255 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr19:4529255G>A ENST00000381848.3 - 5 430 c.350C>T c.(349-351)tCa>tTa p.S117L CTB-50L17.14_ENST00000586020.1_3'UTR NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 117 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 GTCCTTGGCTGAGGTCACCAC 0.667000 9 137 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773444 145773444 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr8:145773444G>A ENST00000276826.5 - 4 1227 c.1026C>T c.(1024-1026)gcC>gcT p.A342A ARHGAP39_ENST00000377307.2_Silent_p.A342A|ARHGAP39_ENST00000540274.1_Silent_p.A342A Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 342 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GGGGAGAGCCGGCCTGGTAGC 0.706000 7 63 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44700525 44700525 + Missense_Mutation SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr3:44700525T>C ENST00000396056.2 + 4 905 c.670T>C c.(670-672)Tgt>Cgt p.C224R RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 224 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) GCCTTTTACGTGTAGCGTGTG 0.428000 7 131 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79792152 79792152 + Nonsense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr4:79792152C>T ENST00000335016.5 + 11 1613 c.1447C>T c.(1447-1449)Cag>Tag p.Q483* BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483* NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 483 Gln/His-rich. Missing (in Ref. 2; CAB70863). nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 gcagcagcagcagcagcagca 0.507000 6 62 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890607 229890607 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr2:229890607C>T ENST00000392054.3 - 4 827 c.488G>A c.(487-489)cGc>cAc p.R163H PID1_ENST00000392055.3_Missense_Mutation_p.R132H|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000354069.6_Missense_Mutation_p.R165H NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 165 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) GTAGGCGATGCGGGCCACCTG 0.582000 6 145 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52255490 52255490 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr3:52255490G>A ENST00000597542.1 - 9 3871 c.2914C>T c.(2914-2916)Cgc>Tgc p.R972C TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V|TLR9_ENST00000360658.2_Missense_Mutation_p.R948C Q9NR96 TLR9_HUMAN toll-like receptor 9 948 TIR. defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) AAGCTGGCGCGCAAGAGACCA 0.662000 4 110 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579425 44579425 + Missense_Mutation SNP C C T rs146842539 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr7:44579425C>T ENST00000289547.4 - 2 626 c.571G>A c.(571-573)Gtg>Atg p.V191M NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 191 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GAGCCATACACGCCACACATG 0.612000 5 98 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26586841 26586841 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr11:26586841C>T ENST00000436318.2 - 2 779 c.646G>A c.(646-648)Gga>Aga p.G216R ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 189 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 GTAAGCCATCCACTTGGTTCC 0.413000 7 107 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90160995 90160995 + RNA SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr16:90160995C>T ENST00000567960.1 + 0 225 TUBB8P7_ENST00000564451.1_RNA p.S75S(1) CCATGGACTCCGTGCGCTCGG 0.692000 20 145 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5038194 5038194 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr16:5038194G>A ENST00000251170.7 + 4 438 c.258G>A c.(256-258)ttG>ttA p.L86L NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 86 PRELI/MSF1. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CAAACATCTTGAACTGGAAGG 0.622000 18 35 0 0 1 0 0 STRIP1 85369 broad.mit.edu 37 1 110592992 110592992 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:110592992C>T ENST00000369795.3 + 18 1939 c.1917C>T c.(1915-1917)tgC>tgT p.C639C STRIP1_ENST00000369796.1_Silent_p.C544C NM_033088.2 NP_149079.2 striatin interacting protein 1 ACCCTCACTGCGTGGTGCATG 0.612000 6 60 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123456319 123456319 + Silent SNP G G T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr3:123456319G>T ENST00000360772.3 - 9 1038 c.660C>A c.(658-660)atC>atA p.I220I MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I Q15746 MYLK_HUMAN myosin light chain kinase 220 Ig-like C2-type 2. 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) TGACTCCATGGATTTCCAGAA 0.547000 9 218 1.04858e-14 1.18301e-14 1 1 0 EVI5 7813 broad.mit.edu 37 1 92979385 92979385 + Frame_Shift_Del DEL C C - rs146602523 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:92979385delC ENST00000370331.1 - 18 2270 c.2261delG c.(2260-2262)gtfs p.G754fs EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 754 Interaction with AURKB and INCENP.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) AAAACCAACACCAGTTTCCTG 0.433 36 79 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 6 6 --- --- --- --- TMPRSS11F 389208 broad.mit.edu 37 4 68938119 68938119 + Frame_Shift_Del DEL T T - TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr4:68938119delT ENST00000356291.2 - 5 495 c.436delA c.(436-438)ttfs p.I146fs RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 146 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 GCCTTTTCAATTTTTTTCTTG 0.313 20 43 --- --- --- --- RP11-65M17.3 0 broad.mit.edu 37 11 112332120 112332121 + RNA INS - - T rs111710457 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:112332120_112332121insT ENST00000528496.1 + 0 231 CTGATTTTATGTTTTTTTTTTT 0.376 2 4 --- --- --- --- EVI5 7813 broad.mit.edu 37 1 92979385 92979385 + Frame_Shift_Del DEL C C - rs146602523 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr1:92979385delC ENST00000370331.1 - 18 2270 c.2261delG c.(2260-2262)gtfs p.G754fs EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 754 Interaction with AURKB and INCENP.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) AAAACCAACACCAGTTTCCTG 0.433 36 79 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 6 6 --- --- --- --- TMPRSS11F 389208 broad.mit.edu 37 4 68938119 68938119 + Frame_Shift_Del DEL T T - TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr4:68938119delT ENST00000356291.2 - 5 495 c.436delA c.(436-438)ttfs p.I146fs RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 146 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 GCCTTTTCAATTTTTTTCTTG 0.313 20 43 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 0a2f5bdf-5d81-493a-9df6-67383310079a g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 2 4 --- --- --- ---