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 CEACAM5 1048 broad.mit.edu 37 19 42224866 42224866 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:42224866C>T ENST00000221992.6 + 8 1910 c.1796C>T c.(1795-1797)tCc>tTc p.S599F CEACAM5_ENST00000398599.4_Missense_Mutation_p.S598F|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S599F|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 599 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCCATCATTTCCCCCCCAGAC 0.547000 46 55 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242155653 242155653 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:242155653G>A ENST00000274979.8 + 19 2237 c.2134_splice c.e19+1 p.V712_splice ANO7_ENST00000402430.3_Splice_Site_p.V711_splice NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 712 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CCTGGAAATGGGTAGGAGCCC 0.637000 7 9 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36869266 36869266 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:36869266C>T ENST00000378137.5 + 9 971 c.880C>T c.(880-882)Cca>Tca p.P294S MLLT6_ENST00000325718.7_Intron P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 623 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GTGCTGTCTGCCAGATACTCC 0.602000 T MLL AL 28 28 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70904013 70904013 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:70904013C>T ENST00000264436.3 - 13 1952 c.1508G>A c.(1507-1509)cGa>cAa p.R503Q ADD2_ENST00000355733.3_Missense_Mutation_p.R503Q|ADD2_ENST00000413157.2_Missense_Mutation_p.R503Q|ADD2_ENST00000430656.1_Missense_Mutation_p.R519Q|ADD2_ENST00000407644.2_Missense_Mutation_p.R503Q NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 503 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GTTTTGTTCTCGAATCTGTGT 0.592000 17 30 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21327630 21327630 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:21327630G>A ENST00000335375.5 + 3 247 c.140G>A c.(139-141)aGg>aAg p.R47K AIFM3_ENST00000405089.1_Silent_p.K28K|AIFM3_ENST00000399163.2_Silent_p.K22K|AIFM3_ENST00000440238.2_Silent_p.K22K|AIFM3_ENST00000399167.2_Silent_p.K22K|AIFM3_ENST00000333607.6_Silent_p.K22K apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGCCTGAGAAGGAGCGAGGCA 0.672000 5 10 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51130860 51130860 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:51130860C>T ENST00000301180.5 + 35 4177 c.4143C>T c.(4141-4143)acC>acT p.T1381T NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1381 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 ATCCTGAGACCAAAGGGCCGG 0.373000 23 43 0 0 1 0 0 TM6SF2 53345 broad.mit.edu 37 19 19377336 19377336 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:19377336G>A ENST00000389363.4 - 9 959 c.887C>T c.(886-888)cCa>cTa p.P296L AC138430.4_ENST00000586064.2_RNA NM_001001524.2 NP_001001524.2 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 296 integral to membrane breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Epithelial(12;0.0151) GGCCCAGTCTGGAAGCCAGGA 0.582000 25 46 0 0 1 0 0 GALR1 2587 broad.mit.edu 37 18 74963125 74963125 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:74963125C>T ENST00000299727.3 + 1 621 c.621C>T c.(619-621)ttC>ttT p.F207F NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 207 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CCTTCGTCTTCGGCTACCTGC 0.692000 48 61 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7289561 7289561 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:7289561C>T ENST00000537408.1 + 6 1639 c.1101C>T c.(1099-1101)ccC>ccT p.P367P CLSTN3_ENST00000266546.6_Silent_p.P355P Q9BQT9 CSTN3_HUMAN calsyntenin 3 355 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TGCAGGTGCCCCTGGGTGGCC 0.622000 37 58 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685178 100685178 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:100685178C>T ENST00000306151.4 + 3 10545 c.10481C>T c.(10480-10482)cCa>cTa p.P3494L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3494 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTTCTTCTCCAACCAATTCA 0.493000 215 250 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15113850 15113850 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:15113850C>T ENST00000378217.3 + 8 975 c.788C>T c.(787-789)tCt>tTt p.S263F OLAH_ENST00000485251.1_Intron|OLAH_ENST00000378228.3_Missense_Mutation_p.S210F NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 210 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 TTTGTTGGATCTGAAGACATA 0.308000 33 32 0 0 1 0 0 SAAL1 113174 broad.mit.edu 37 11 18105252 18105252 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:18105252T>G ENST00000524803.1 - 10 1118 c.1069A>C c.(1069-1071)Att>Ctt p.I357L SAAL1_ENST00000529318.1_Missense_Mutation_p.I359L|SAAL1_ENST00000300013.4_Missense_Mutation_p.I356L Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 357 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 AAGACCCGAATGAGGCTGTCA 0.368000 29 1 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53519023 53519023 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:53519023C>T ENST00000370905.3 - 2 1188 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K KLHL31_ENST00000407079.1_Missense_Mutation_p.E350K NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) GCTGGCATTTCCGTAAGCTTG 0.473000 22 30 0 0 1 0 0 DPRX 503834 broad.mit.edu 37 19 54140071 54140071 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:54140071C>T ENST00000376650.1 + 3 456 c.405C>T c.(403-405)ccC>ccT p.P135P NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 135 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) TCCTGTACCCCAACCTCAAGG 0.517000 32 44 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 40 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885772 39885772 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:39885772G>A ENST00000260356.5 + 19 3335 c.3170G>A c.(3169-3171)gGa>gAa p.G1057E NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1057 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) AGGGCTCAGGGATACTCGGGC 0.572000 62 13 0 0 1 0 0 SAAL1 113174 broad.mit.edu 37 11 18105253 18105253 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:18105253G>A ENST00000524803.1 - 10 1117 c.1068C>T c.(1066-1068)ctC>ctT p.L356L SAAL1_ENST00000529318.1_Silent_p.L358L|SAAL1_ENST00000300013.4_Silent_p.L355L Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 356 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 AGACCCGAATGAGGCTGTCAA 0.373000 28 1 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027438 37027438 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:37027438C>T ENST00000358047.3 + 1 1007 c.955C>T c.(955-957)Cgc>Tgc p.R319C NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 319 p.R319C(2) 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 ATCTCATCTCCGCCCAGAGCC 0.607000 39 1 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167721306 167721306 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:167721306T>G ENST00000230256.3 + 7 1191 c.1016T>G c.(1015-1017)cTg>cGg p.L339R UNC93A_ENST00000366829.2_Missense_Mutation_p.L297R NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 339 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GCCCTACTGCTGTGGAGACCT 0.617000 33 44 0 0 1 0 0 CTHRC1 115908 broad.mit.edu 37 8 104388009 104388009 + Missense_Mutation SNP G G A rs147175675 by1000genomes TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:104388009G>A ENST00000330295.5 + 2 336 c.194G>A c.(193-195)cGa>cAa p.R65Q CTHRC1_ENST00000520337.1_Missense_Mutation_p.R51Q|CTHRC1_ENST00000415886.2_Missense_Mutation_p.R65Q NM_138455.3 NP_612464.1 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 65 Collagen-like. collagen endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) GTGCCTGGTCGAGACGGGAGC 0.498000 27 44 0 0 1 0 0 CCDC172 374355 broad.mit.edu 37 10 118137945 118137945 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:118137945G>A ENST00000333254.3 + 8 915 c.664G>A c.(664-666)Gaa>Aaa p.E222K NM_198515.2 NP_940917.1 coiled-coil domain containing 172 p.E222K(1) ACTTAAAAAAGAATTAGAACT 0.279000 11 17 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9757672 9757672 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:9757672C>T ENST00000383832.3 + 14 1027 c.837C>T c.(835-837)tcC>tcT p.S279S CPNE9_ENST00000383831.3_Silent_p.S279S NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 279 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) CGCTGCTCTCCTTCTCTGTGG 0.532000 OREG0015381 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179495906 179495906 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:179495906C>T ENST00000589042.1 - 237 44093 c.43869G>A c.(43867-43869)aaG>aaA p.K14623K TTN_ENST00000460472.2_Silent_p.K5558K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.K12982K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K5683K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.K12055K|TTN_ENST00000342175.6_Silent_p.K5750K|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12982 Ig-like 96. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTTATTTCCTTCCCATCCT 0.373000 11 18 0 0 1 0 0 NUTM2D 728130 broad.mit.edu 37 10 89127098 89127098 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:89127098C>T ENST00000412718.1 + 7 2189 c.1643C>T c.(1642-1644)cCt>cTt p.P548L NUT family member 2D TAGGGAGCCCCTTCAGATGCT 0.632000 9 12 0 0 1 0 0 BORA 79866 broad.mit.edu 37 13 73321085 73321085 + Missense_Mutation SNP G G C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:73321085G>C ENST00000390667.5 + 10 1415 c.1318G>C c.(1318-1320)Gag>Cag p.E440Q BORA_ENST00000377815.3_Missense_Mutation_p.E370Q NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 440 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding TGATCCTATAGAGATAGCAGA 0.408000 18 37 0 0 1 0 0 NPEPL1 79716 broad.mit.edu 37 20 57290244 57290244 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:57290244C>T ENST00000356091.6 + 12 1722 c.1434C>T c.(1432-1434)ttC>ttT p.F478F NPEPL1_ENST00000525967.1_Silent_p.F450F|NPEPL1_ENST00000525817.1_Silent_p.F430F|STX16-NPEPL1_ENST00000530122.1_3'UTR NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 478 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) CCACAGGCTTCGGTGTGGCCC 0.672000 10 8 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995902 140995902 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:140995902C>T ENST00000285879.4 + 4 2998 c.2712C>T c.(2710-2712)ttC>ttT p.F904F MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 904 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGCCCTTGTTCACTTATACAC 0.478000 HNSCC(15;0.026) 61 6 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165947814 165947814 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:165947814G>A ENST00000360093.3 - 28 5340 c.4849C>T c.(4849-4851)Cct>Tct p.P1617S SCN3A_ENST00000540861.1_Missense_Mutation_p.P100S|SCN3A_ENST00000409101.3_Missense_Mutation_p.P1568S|SCN3A_ENST00000283254.7_Missense_Mutation_p.P1617S NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1617 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AACAAGGTAGGGGACACAAAA 0.433000 28 37 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118982328 118982328 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:118982328C>T ENST00000328252.3 + 5 2400 c.2031C>T c.(2029-2031)ctC>ctT p.L677L PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 677 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTGTTGCCCTCGCCCCCCAAG 0.577000 125 8 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38645290 38645290 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:38645290G>A ENST00000413689.1 - 12 1996 c.1803C>T c.(1801-1803)gtC>gtT p.V601V SCN5A_ENST00000449557.2_Silent_p.V601V|SCN5A_ENST00000443581.1_Silent_p.V601V|SCN5A_ENST00000450102.2_Silent_p.V601V|SCN5A_ENST00000425664.1_Silent_p.V601V|SCN5A_ENST00000414099.2_Silent_p.V601V|SCN5A_ENST00000451551.2_Silent_p.V601V|SCN5A_ENST00000333535.4_Silent_p.V601V|SCN5A_ENST00000455624.2_Silent_p.V601V|SCN5A_ENST00000423572.2_Silent_p.V601V NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 601 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCAGTAATGAGACCACCCCAT 0.662000 39 48 0 0 1 0 0 HMGA2 8091 broad.mit.edu 37 12 66221809 66221809 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:66221809G>A ENST00000541363.1 + 2 513 c.140G>A c.(139-141)aGa>aAa p.R47K HMGA2_ENST00000403681.2_Missense_Mutation_p.R47K|HMGA2_ENST00000393577.3_Missense_Mutation_p.R47K|HMGA2_ENST00000393578.3_Missense_Mutation_p.R47K|HMGA2_ENST00000536545.1_Missense_Mutation_p.R47K|HMGA2_ENST00000354636.3_Missense_Mutation_p.R47K|HMGA2_ENST00000425208.2_Missense_Mutation_p.R47K P52926 HMGA2_HUMAN high mobility group AT-hook 2 47 Interaction with E4F1. cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent chromatin AT DNA binding HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) TCTCCTAAGAGACCCAGGGGA 0.448000 T """ LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT""" """lipoma, leiomyoma, pleiomorphic salivary gland adenoma""" 10 24 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185173954 185173954 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:185173954G>A ENST00000367500.4 + 12 1957 c.1792G>A c.(1792-1794)Gaa>Aaa p.E598K SWT1_ENST00000367501.3_Missense_Mutation_p.E598K NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 598 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 TTCAATATTAGAAACAGAAAT 0.323000 13 26 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52851021 52851021 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:52851021C>T ENST00000266041.4 - 21 2446 c.2350G>A c.(2350-2352)Gaa>Aaa p.E784K ITIH4_ENST00000485816.1_Missense_Mutation_p.E789K|ITIH4_ENST00000406595.1_Missense_Mutation_p.E754K|ITIH4_ENST00000346281.5_Missense_Mutation_p.E768K NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 784 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) AAGGTCACTTCGATCCATGAG 0.582000 35 44 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 121985724 121985724 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:121985724C>T ENST00000334010.7 - 26 3931 c.3510G>A c.(3508-3510)atG>atA p.M1170I RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.M1172I|RP5-1101C3.1_ENST00000482375.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.M1131I|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000602012.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.M1131I|RP5-1101C3.1_ENST00000602199.1_RNA NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 1172 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CTGCCAGATCCATTCCTGGTT 0.323000 37 39 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984958 140984958 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:140984958C>T ENST00000298296.1 + 7 1414 c.1414C>T c.(1414-1416)Caa>Taa p.Q472* MAGEC3_ENST00000544766.1_Nonsense_Mutation_p.Q174*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.Q174*|MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.Q94*|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.Q174* NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 472 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCTCAAATATCAAACAAAAGA 0.458000 31 3 0 0 1 0 0 SULT1E1 6783 broad.mit.edu 37 4 70707808 70707808 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:70707808C>T ENST00000226444.3 - 8 901 c.789G>A c.(787-789)tgG>tgA p.W263* NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 263 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 AGTGATTTTTCCAGTCTCCTG 0.313000 13 21 0 0 1 0 0 TRAJ18 28737 broad.mit.edu 37 14 22994651 22994651 + RNA SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:22994651C>T ENST00000390519.1 + 0 32 GGAGGCTATACTTTGGAAGAG 0.488000 19 31 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834088 61834088 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:61834088G>A ENST00000280772.1 - 37 6742 c.6551C>T c.(6550-6552)cCc>cTc p.P2184L ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2184 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTGGGTCTGGGGAACATCCCC 0.448000 27 48 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92730850 92730850 + Missense_Mutation SNP C C T rs115350620 byFrequency TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:92730850C>T ENST00000379958.2 - 3 4830 c.4561G>A c.(4561-4563)Gaa>Aaa p.E1521K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1521 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGGACTTTTTCCTCCTTCCAC 0.363000 26 32 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11407739 11407739 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:11407739C>T ENST00000259089.4 + 6 1032 c.440C>T c.(439-441)tCc>tTc p.S147F BLK_ENST00000529894.1_Missense_Mutation_p.S76F NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 147 SH2. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) AAGGCCGGCTCCTTTCTTATC 0.562000 17 20 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123887040 123887040 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:123887040C>T ENST00000320891.4 + 1 759 c.759C>T c.(757-759)ccC>ccT p.P253P NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCTTTGTTCCCTGTGTTGTCA 0.537000 34 3 0 0 1 0 0 PLIN1 5346 broad.mit.edu 37 15 90212868 90212868 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:90212868G>A ENST00000300055.5 - 6 799 c.634C>T c.(634-636)Ccc>Tcc p.P212S PLIN1_ENST00000430628.2_Missense_Mutation_p.P212S NM_002666.4 NP_002657.3 O60240 PLIN1_HUMAN perilipin 1 212 triglyceride catabolic process lipid particle lipid binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2) 13 TTGGCCTTGGGAGACTTCTGG 0.622000 14 21 0 0 1 0 0 RASGRP4 115727 broad.mit.edu 37 19 38912770 38912770 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:38912770C>T ENST00000454404.2 - 2 260 c.47G>A c.(46-48)gGa>gAa p.G16E RASGRP4_ENST00000293062.9_Missense_Mutation_p.G16E|RASGRP4_ENST00000587738.1_Missense_Mutation_p.G16E|RASGRP4_ENST00000587753.1_Missense_Mutation_p.G16E|RASGRP4_ENST00000586305.1_Missense_Mutation_p.G16E|RASGRP4_ENST00000433821.2_Missense_Mutation_p.G16E|RASGRP4_ENST00000426920.2_Missense_Mutation_p.G16E NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 16 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCCTATTTTTCCGGTGCATTC 0.592000 14 15 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51958829 51958829 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:51958829C>T ENST00000321424.3 - 4 960 c.894G>A c.(892-894)ggG>ggA p.G298G SIGLEC8_ENST00000430817.1_Silent_p.G189G|SIGLEC8_ENST00000340550.5_Silent_p.G205G NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 298 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GGGTCAGGCTCCCCCGGGTCC 0.622000 16 14 0 0 1 0 0 CLEC18B 497190 broad.mit.edu 37 16 74452089 74452089 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:74452089C>T ENST00000339953.5 - 3 445 c.324G>A c.(322-324)tgG>tgA p.W108* NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 108 SCP. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCTGCATGTTCCAGCCCACTT 0.662000 14 37 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9050196 9050196 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:9050196G>A ENST00000397910.4 - 5 31638 c.31435C>T c.(31435-31437)Ctg>Ttg p.L10479L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10481 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGTCTTCAGAGCTGTGGTG 0.488000 99 126 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457248 107457248 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:107457248C>T ENST00000318763.5 + 1 589 c.546C>T c.(544-546)atC>atT p.I182I NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 GGTCCTGGATCATAGGCTGTC 0.463000 46 5 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74806756 74806756 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:74806756G>A ENST00000412021.2 - 9 1337 c.1004C>T c.(1003-1005)cCt>cTt p.P335L P4HA1_ENST00000373008.2_Missense_Mutation_p.P335L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P335L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P335L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P335L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P335L NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 335 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AATAATACGAGGCTTGTCCCA 0.393000 33 35 0 0 1 0 0 FAM211B 388886 broad.mit.edu 37 22 24981921 24981921 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:24981921G>A ENST00000318753.8 - 4 904 c.881C>T c.(880-882)cCt>cTt p.P294L GGT1_ENST00000248923.4_Intron NM_207644.2 NP_997527.2 Q2VPJ9 LRC6X_HUMAN family with sequence similarity 211, member B 294 GGTGGAGGCAGGGGTGGTGGC 0.701000 12 13 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20432305 20432305 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:20432305C>T ENST00000377252.3 + 5 1464 c.623C>T c.(622-624)cCc>cTc p.P208L PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.P159L NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 208 integral to membrane p.P208L(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 AATTTCGATCCCAGTGTATCC 0.358000 22 40 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55253054 55253054 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:55253054C>T ENST00000381298.2 - 9 1351 c.1039G>A c.(1039-1041)Gta>Ata p.V347I IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.V347I|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381287.4_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.V347I|IL6ST_ENST00000502326.3_Missense_Mutation_p.V347I NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 347 Fibronectin type-III 3. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) ACGAGTTGTACAGTTCTGTAG 0.338000 O hepatocellular ca 29 44 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70964852 70964852 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:70964852C>T ENST00000334414.6 - 13 3368 c.3324G>A c.(3322-3324)acG>acA p.T1108T PTPRB_ENST00000551525.1_Silent_p.T1107T|PTPRB_ENST00000261266.5_Silent_p.T890T|PTPRB_ENST00000538708.1_Silent_p.T890T|PTPRB_ENST00000550857.1_Silent_p.T800T|PTPRB_ENST00000451516.2_Silent_p.T800T|PTPRB_ENST00000550358.1_Silent_p.T1020T NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 890 Fibronectin type-III 13. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CCCCGCTAATCGTCAAGACAA 0.423000 9 17 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080427 54080427 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:54080427C>T ENST00000253144.9 + 7 1946 c.613C>T c.(613-615)Cat>Tat p.H205Y ZNF331_ENST00000411977.2_Missense_Mutation_p.H205Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.H205Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.H205Y|ZNF331_ENST00000511154.1_Missense_Mutation_p.H205Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.H205Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.H205Y NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) CCTCGTTATTCATAAGAGGAT 0.453000 T ? follicular thyroid adenoma 22 37 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191897741 191897741 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:191897741G>A ENST00000392320.2 - 21 2301 c.1987C>T c.(1987-1989)Cct>Tct p.P663S STAT4_ENST00000358470.4_Missense_Mutation_p.P663S NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 663 SH2. JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GGAATGTCAGGATATAGGTAC 0.413000 24 34 0 0 1 0 0 IMPA2 3613 broad.mit.edu 37 18 11999180 11999180 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:11999180C>T ENST00000269159.3 + 2 466 c.224C>T c.(223-225)tCa>tTa p.S75L IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 75 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) AGGTTTCCTTCACACAGGTAG 0.488000 15 28 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370876 126370876 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:126370876G>A ENST00000394329.3 + 9 8718 c.8705G>A c.(8704-8706)gGa>gAa p.G2902E FAT4_ENST00000335110.5_Missense_Mutation_p.G1200E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2902 Cadherin 28. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCTGATGAGGGATCAAATGGA 0.358000 25 43 0 0 1 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249287 71249287 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:71249287C>T ENST00000398534.3 + 1 217 c.186C>T c.(184-186)tcC>tcT p.S62S NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 62 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 GCCGTGGCTCCTGTGGGGGCT 0.657000 233 13 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92734212 92734212 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:92734212C>T ENST00000379958.2 - 3 1468 c.1199G>A c.(1198-1200)gGa>gAa p.G400E NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 400 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ATCTTGATTTCCTGTCAATAA 0.328000 19 21 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90349307 90349307 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:90349307G>A ENST00000300060.6 - 2 821 c.508C>T c.(508-510)Ctg>Ttg p.L170L NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 170 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TCCTTCACCAGGGAGCCCTTG 0.622000 27 39 0 0 1 0 0 FAM84A 151354 broad.mit.edu 37 2 14774273 14774273 + Missense_Mutation SNP C C T rs78327295 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:14774273C>T ENST00000295092.2 + 2 458 c.170C>T c.(169-171)gCc>gTc p.A57V FAM84A_ENST00000331243.4_Missense_Mutation_p.A57V NM_145175.2 NP_660158.2 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 57 endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) GGCGTGAAGGCCCCCCCGGGT 0.632000 11 12 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6898247 6898247 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:6898247C>T ENST00000379829.2 + 1 392 c.369C>T c.(367-369)cgC>cgT p.R123R NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CATATGACCGCTACGTGGCCA 0.542000 31 7 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52782019 52782019 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:52782019G>A ENST00000245457.5 + 1 907 c.753G>A c.(751-753)ggG>ggA p.G251G PTGER2_ENST00000557436.1_5'UTR NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 251 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) gcAGGAGAGGGGAAAGGGTGT 0.642000 10 22 0 0 1 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47123261 47123261 + Missense_Mutation SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:47123261A>G ENST00000290341.3 + 13 1739 c.1405A>G c.(1405-1407)Aga>Gga p.R469G IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R330G NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 469 KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGCTCAGGGAAGAATCTATGG 0.473000 16 14 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718663 42718663 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:42718663G>A ENST00000230882.4 + 10 1244 c.1054G>A c.(1054-1056)Gag>Aag p.E352K GHR_ENST00000537449.1_Missense_Mutation_p.E165K|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E330K NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 352 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGATATTGATGAGCCAGATGA 0.423000 44 52 0 0 1 0 0 EXOC6B 23233 broad.mit.edu 37 2 72725603 72725603 + Missense_Mutation SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:72725603C>A ENST00000272427.6 - 13 1447 c.1317G>T c.(1315-1317)aaG>aaT p.K439N EXOC6B_ENST00000410104.1_Missense_Mutation_p.K439N NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 439 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 CTGCCCACTTCTTTAGCAGAG 0.353000 10 3 5.50884e-06 5.55832e-06 1 1 0 SPATA8 145946 broad.mit.edu 37 15 97328251 97328251 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:97328251C>T ENST00000558553.1 + 3 249 c.100C>T c.(100-102)Cca>Tca p.P34S SPATA8_ENST00000328504.3_Silent_p.I74I Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 0 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) ACGGAAGGATCCAAAGGGTTC 0.453000 24 41 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974850 49974850 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:49974850G>A ENST00000555099.1 + 1 908 c.876G>A c.(874-876)atG>atA p.M292I NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ATGCTCAAATGAAAAATGCCA 0.383000 27 1 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10620152 10620152 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:10620152G>A ENST00000254958.5 - 26 4166 c.3651C>T c.(3649-3651)atC>atT p.I1217I JAG1_ENST00000423891.2_Silent_p.I1058I NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 1217 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TCTGCTATACGATGTACTCCA 0.532000 Alagille Syndrome 76 143 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004791 102004791 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:102004791C>T ENST00000372735.1 + 4 1453 c.868C>T c.(868-870)Cag>Tag p.Q290* BHLHB9_ENST00000448867.1_Nonsense_Mutation_p.Q290*|BHLHB9_ENST00000361229.4_Nonsense_Mutation_p.Q290*|BHLHB9_ENST00000457056.1_Nonsense_Mutation_p.Q290*|BHLHB9_ENST00000447531.1_Nonsense_Mutation_p.Q290* Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 290 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CCCCTGCATCCAGACCATAGA 0.473000 27 3 0 0 1 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435592 104435592 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:104435592G>A ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA GCCCAAGCCTGGTGCAGGGAC 0.443000 11 14 0 0 1 0 0 MARCH4 57574 broad.mit.edu 37 2 217148305 217148305 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:217148305G>A ENST00000273067.4 - 2 2430 c.664C>T c.(664-666)Cct>Tct p.P222S NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 222 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) ACCTGCAGAGGATTTTTTGTG 0.572000 23 38 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855779 79855779 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:79855779C>T ENST00000338682.3 - 5 732 c.60G>A c.(58-60)caG>caA p.Q20Q NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 20 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) GAAGCCGGCTCTGATGGACTG 0.458000 16 25 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24268220 24268220 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:24268220G>A ENST00000005284.3 + 1 1347 c.145G>A c.(145-147)Gaa>Aaa p.E49K NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 49 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.E49K(1) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) AAGTGATAATGAAACCAGCAG 0.443000 21 21 0 0 1 0 0 NOTUM 147111 broad.mit.edu 37 17 79914551 79914551 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:79914551G>A ENST00000409678.3 - 8 1346 c.963C>T c.(961-963)ggC>ggT p.G321G NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 321 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AGACCTTGTAGCCAAAGAAGC 0.637000 7 11 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7633803 7633803 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:7633803C>T ENST00000359156.4 - 15 3499 c.3297G>A c.(3295-3297)atG>atA p.M1099I CD163_ENST00000541972.1_Missense_Mutation_p.M1087I|CD163_ENST00000396620.3_Missense_Mutation_p.M1132I|CD163_ENST00000432237.2_Missense_Mutation_p.M1099I NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1099 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GGCAAGAATTCATCTCCCGGT 0.453000 17 22 0 0 1 0 0 RAB27B 5874 broad.mit.edu 37 18 52544958 52544958 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:52544958G>A ENST00000262094.5 + 2 663 c.142G>A c.(142-144)Gaa>Aaa p.E48K RAB27B_ENST00000586594.1_3'UTR NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 48 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) AGACTTTCGGGAAAAACGTGT 0.378000 20 45 0 0 1 0 0 RPL13 6137 broad.mit.edu 37 16 89628065 89628065 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:89628065C>T ENST00000393099.3 + 3 575 c.326C>T c.(325-327)tCc>tTc p.S109F RPL13_ENST00000452368.3_Intron|RPL13_ENST00000311528.5_Missense_Mutation_p.S109F|RPL13_ENST00000567815.1_Missense_Mutation_p.S109F NM_033251.2 NP_150254.1 P26373 RL13_HUMAN ribosomal protein L13 109 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic ribosome protein binding|RNA binding|structural constituent of ribosome lung(3)|skin(1)|upper_aerodigestive_tract(2) 6 all_hematologic(23;0.0748) all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139) TCCACGGAGTCCCTGCAGGCC 0.612000 17 22 0 0 1 0 0 RNF219 79596 broad.mit.edu 37 13 79189748 79189748 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:79189748G>A ENST00000282003.6 - 6 2206 c.2148C>T c.(2146-2148)tcC>tcT p.S716S RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 716 Ser-rich. zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GGCTGGCACTGGAAAGGCTGC 0.373000 23 37 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163292034 163292034 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:163292034C>T ENST00000332142.5 - 8 1727 c.1628G>A c.(1627-1629)cGa>cAa p.R543Q KCNH7_ENST00000328032.4_Missense_Mutation_p.R536Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 543 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity 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) TTCTGAATATCGATCCAGTTT 0.453000 15 23 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854241 12854241 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:12854241C>T ENST00000332296.7 + 3 568 c.465C>T c.(463-465)ctC>ctT p.L155L NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 155 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACATCTGCCTCAAGGAAATAC 0.498000 19 151 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180420075 180420075 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:180420075C>T ENST00000342868.6 + 2 496 c.312C>T c.(310-312)atC>atT p.I104I NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 104 lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TAAAAAACATCACTCCCTCGG 0.522000 4 5 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080218 23080218 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:23080218G>A ENST00000219689.7 - 16 3207 c.3208C>T c.(3208-3210)Ccc>Tcc p.P1070S USP31_ENST00000567975.1_Missense_Mutation_p.P363S NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1070 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GAGCGGGAGGGCTTTAGAGAG 0.552000 18 27 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760883 186760883 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:186760883C>T ENST00000169298.3 + 4 1066 c.392C>T c.(391-393)cCa>cTa p.P131L ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P131L|ST6GAL1_ENST00000457772.2_Intron NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 131 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GGGCCAGGACCAGGCATCAAG 0.488000 12 15 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139165439 139165439 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:139165439G>A ENST00000395297.1 - 13 1449 c.1279C>T c.(1279-1281)Cct>Tct p.P427S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 427 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCAAAATTAGGATAAACACTC 0.294000 HNSCC(54;0.14) 6 16 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 146 58 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898705 36898705 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:36898705G>A ENST00000301807.6 - 12 2623 c.726C>T c.(724-726)atC>atT p.I242I TRANK1_ENST00000428977.2_Silent_p.I242I|TRANK1_ENST00000429976.2_Silent_p.I792I NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 792 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAGTGCACTCGATCTCCCAGG 0.493000 84 107 0 0 1 0 0 STX11 8676 broad.mit.edu 37 6 144507955 144507955 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:144507955G>A ENST00000367568.4 + 2 374 c.191G>A c.(190-192)cGg>cAg p.R64Q NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 64 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GACGTGAAGCGGCTGGGAAAG 0.622000 Familial Hemophagocytic Lymphohistiocytosis 9 10 0 0 1 0 0 NTN5 126147 broad.mit.edu 37 19 49173971 49173971 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:49173971G>A ENST00000270235.4 - 2 368 c.273C>T c.(271-273)atC>atT p.I91I SEC1P_ENST00000430145.2_RNA NM_145807.1 NP_665806.1 Q8WTR8 NET5_HUMAN netrin 5 91 extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 10 CAGCAGACAGGATGAGGGCTG 0.662000 9 13 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156816259 156816259 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:156816259C>T ENST00000347377.6 + 29 3701 c.3270C>T c.(3268-3270)tcC>tcT p.S1090S CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000435847.2_Silent_p.S789S|CYFIP2_ENST00000522463.1_Silent_p.S894S|CYFIP2_ENST00000541131.1_Silent_p.S1015S|CYFIP2_ENST00000521420.1_Silent_p.S1064S|CYFIP2_ENST00000377576.3_Silent_p.S1090S|CYFIP2_ENST00000318218.6_Silent_p.S1115S NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1115 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGCCTGTCCATGTTCGAGG 0.602000 23 29 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13864593 13864593 + Silent SNP G G A rs138157585 byFrequency TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:13864593G>A ENST00000265104.4 - 28 4613 c.4509C>T c.(4507-4509)acC>acT p.T1503T CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1503 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GACTGTGCCCGGTGAGGGTGG 0.458000 Kartagener syndrome 13 18 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170014006 170014006 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:170014006C>T ENST00000263816.3 - 64 12179 c.11894G>A c.(11893-11895)gGa>gAa p.G3965E NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3965 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCTTTCTTTTCCTTTATCTGA 0.373000 9 11 0 0 1 0 0 GHRHR 2692 broad.mit.edu 37 7 31018774 31018774 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:31018774C>T ENST00000409904.3 + 10 1253 c.995C>T c.(994-996)cCt>cTt p.P332L GHRHR_ENST00000409316.1_3'UTR|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000326139.2_Missense_Mutation_p.P396L Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 396 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) GGCCATGACCCTGAGCTTCTG 0.602000 25 45 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70070851 70070851 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:70070851G>A ENST00000370598.1 + 29 4507 c.3686G>A c.(3685-3687)gGa>gAa p.G1229E BAI3_ENST00000238918.8_Missense_Mutation_p.G435E|BAI3_ENST00000546190.1_Missense_Mutation_p.G193E NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1229 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GAAGAAAAGGGAACAAACCCT 0.428000 21 29 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155449607 155449607 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:155449607G>A ENST00000368346.3 - 3 3693 c.3054C>T c.(3052-3054)ctC>ctT p.L1018L ASH1L_ENST00000392403.3_Silent_p.L1018L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1018 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CCGTATTATGGAGTTTGGATT 0.338000 17 53 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112176267 112176267 + Missense_Mutation SNP A A T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:112176267A>T ENST00000457016.1 + 16 5356 c.4976A>T c.(4975-4977)gAt>gTt p.D1659V APC_ENST00000257430.4_Missense_Mutation_p.D1659V|APC_ENST00000508376.2_Missense_Mutation_p.D1659V|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1659 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCTCTAAGTGATCTAACAATC 0.448000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 20 22 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117027875 117027875 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:117027875G>A ENST00000355044.3 + 13 2180 c.2054G>A c.(2053-2055)tGg>tAg p.W685* NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 685 PSI 2. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GGGTGCCAATGGTGTGATGAC 0.403000 15 28 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987893 61987893 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:61987893C>T ENST00000309894.5 - 3 192 c.193G>A c.(193-195)Gcc>Acc p.A65T CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000392824.4_Silent_p.K134K|CSHL1_ENST00000558099.1_5'UTR NM_022579.1 NP_072101.1 Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 65 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 GTGATATAGGCTTCTTCCTAG 0.507000 36 60 0 0 1 0 0 H2AFY2 55506 broad.mit.edu 37 10 71853498 71853498 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:71853498C>T ENST00000373255.4 + 5 749 c.485C>T c.(484-486)cCa>cTa p.P162L NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 162 chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 CAGTCCAAACCAAAGGACAGC 0.463000 13 10 0 0 1 0 0 TMCO2 127391 broad.mit.edu 37 1 40717077 40717077 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:40717077C>T ENST00000372766.3 + 2 453 c.360C>T c.(358-360)ttC>ttT p.F120F TMCO2_ENST00000468258.1_3'UTR NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 120 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) ATAATCTTTTCCTGTCCTTGG 0.388000 12 29 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36644056 36644056 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:36644056C>T ENST00000316156.4 + 9 2087 c.1634C>T c.(1633-1635)cCc>cTc p.P545L MAP7D1_ENST00000373148.4_Missense_Mutation_p.P119L|MAP7D1_ENST00000373151.2_Missense_Mutation_p.P582L|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P550L Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 582 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GCCCCTGCTCCCCCGGTGACC 0.682000 16 8 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128034605 128034605 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:128034605C>T ENST00000338791.6 - 15 1949 c.1599G>A c.(1597-1599)caG>caA p.Q533Q IMPDH1_ENST00000354269.5_Silent_p.Q523Q|IMPDH1_ENST00000480861.1_Silent_p.Q443Q|IMPDH1_ENST00000378717.4_Silent_p.Q464Q|IMPDH1_ENST00000419067.2_Silent_p.Q500Q|IMPDH1_ENST00000343214.4_Silent_p.Q423Q|IMPDH1_ENST00000348127.6_Silent_p.Q497Q|IMPDH1_ENST00000496200.1_Silent_p.Q423Q|IMPDH1_ENST00000470772.1_Silent_p.Q447Q NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 448 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) ATCCTTTGTCCTGGATGGAGC 0.602000 45 75 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 161771200 161771200 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:161771200G>A ENST00000366898.1 - 12 1431 c.1329C>T c.(1327-1329)ctC>ctT p.L443L PARK2_ENST00000338468.3_Silent_p.L252L|PARK2_ENST00000366896.1_Silent_p.L294L|PARK2_ENST00000366897.1_Silent_p.L415L|PARK2_ENST00000366894.1_Silent_p.L252L NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 443 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) AGCACCACTCGAGCCTGCACT 0.627000 6 14 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184764939 184764939 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:184764939C>T ENST00000367511.3 - 14 2152 c.1959G>A c.(1957-1959)gaG>gaA p.E653E FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 653 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TAATCACCTGCTCAGTCCCAT 0.567000 18 49 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162577572 162577572 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:162577572G>A ENST00000306100.5 - 7 1238 c.802C>T c.(802-804)Ctg>Ttg p.L268L FSTL5_ENST00000379164.4_Silent_p.L267L|FSTL5_ENST00000536695.1_Silent_p.L267L|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Silent_p.L267L NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 268 Ig-like 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GCACAGCTCAGAACAGCACTT 0.403000 15 25 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394581 164394581 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:164394581C>T ENST00000280605.3 - 1 466 c.306G>A c.(304-306)agG>agA p.R102R NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 102 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGTGAAGTTTCCTCAGGTTCA 0.547000 15 15 0 0 1 0 0 RRAGB 10325 broad.mit.edu 37 X 55783668 55783668 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:55783668C>T ENST00000374941.4 + 9 1436 c.847C>T c.(847-849)Cag>Tag p.Q283* RRAGB_ENST00000262850.7_Nonsense_Mutation_p.Q311* NM_006064.4 NP_006055.3 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B 311 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1) 14 TGCCTCTTTCCAGAGTATGGA 0.373000 15 2 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391098 31391098 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:31391098G>A ENST00000268296.4 + 25 3010 c.2889G>A c.(2887-2889)agG>agA p.R963R ITGAX_ENST00000562522.1_Silent_p.R963R NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 963 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TGGGACAGAGGGACCTGCCTG 0.627000 6 14 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58578642 58578642 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:58578642C>T ENST00000506786.1 + 5 1218 c.664C>T c.(664-666)Cat>Tat p.H222Y ZNF135_ENST00000359978.6_Missense_Mutation_p.H276Y|ZNF135_ENST00000511556.1_Missense_Mutation_p.H276Y|ZNF135_ENST00000401053.4_Missense_Mutation_p.H288Y|ZNF135_ENST00000439855.2_Missense_Mutation_p.H264Y|ZNF135_ENST00000313434.5_Missense_Mutation_p.H264Y B4DHH9 B4DHH9_HUMAN zinc finger protein 135 276 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CCAGAGAATCCATACTGGGGA 0.517000 35 49 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14758153 14758153 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:14758153G>A ENST00000253673.5 - 8 822 c.722C>T c.(721-723)tCa>tTa p.S241L EMR3_ENST00000443157.2_Missense_Mutation_p.S115L|EMR3_ENST00000344373.4_Missense_Mutation_p.S189L|EMR3_ENST00000599900.1_Missense_Mutation_p.S26L NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 241 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 AGAAGAATATGAGATAAAGGC 0.338000 9 24 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111729274 111729274 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:111729274C>T ENST00000261726.6 + 5 508 c.354C>T c.(352-354)ccC>ccT p.P118P NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 118 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GACTGCAGCCCCCCAGCTTTG 0.617000 25 40 0 0 1 0 0 ABCF2 10061 broad.mit.edu 37 7 150905163 150905163 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:150905163C>T ENST00000222388.2 - 16 1944 c.1899G>A c.(1897-1899)agG>agA p.R633R NM_005692.3 NP_005683.2 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 0 ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATGCTCATGGCCTTGGCAGAG 0.612000 24 28 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98249158 98249158 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:98249158C>T ENST00000265634.3 + 2 795 c.630C>T c.(628-630)acC>acT p.T210T NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 210 synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) AGAGGGTCACCGAGCTGGAGC 0.592000 22 24 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30961252 30961252 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr21:30961252G>A ENST00000399914.1 - 10 1952 c.1431C>T c.(1429-1431)ttC>ttT p.F477F GRIK1_ENST00000309434.7_Silent_p.F494F|GRIK1_ENST00000327783.4_Silent_p.F492F|GRIK1_ENST00000399909.1_Silent_p.F477F|GRIK1_ENST00000389124.2_Silent_p.F492F|GRIK1_ENST00000399907.1_Silent_p.F492F|GRIK1_ENST00000535441.1_Silent_p.F494F|GRIK1_ENST00000389125.3_Silent_p.F477F|GRIK1_ENST00000399913.1_Silent_p.F492F P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 492 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CATCATAAATGAAACCCAGGA 0.393000 22 43 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149919801 149919801 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:149919801C>T ENST00000261797.6 + 8 2226 c.1724C>T c.(1723-1725)tCc>tTc p.S575F NDST1_ENST00000523767.1_Missense_Mutation_p.S575F NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 575 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGATCTTCTCCGAGGAGAAG 0.617000 10 17 0 0 1 0 0 CLRN2 645104 broad.mit.edu 37 4 17517118 17517118 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:17517118G>A ENST00000511148.2 + 1 331 c.229G>A c.(229-231)Ggg>Agg p.G77R NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 77 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 GTGTGGGCTTGGGGGCCGCCA 0.488000 9 9 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673385 141673385 + Silent SNP G G A rs144536521 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:141673385G>A ENST00000547270.1 - 1 188 c.105C>T c.(103-105)ttC>ttT p.F35F NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 35 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CCAAGAAAACGAAGGCATTGG 0.483000 34 31 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952793 119952793 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:119952793G>A ENST00000307142.4 + 4 3059 c.2863G>A c.(2863-2865)Gga>Aga p.G955R SYNPO2_ENST00000434046.2_Missense_Mutation_p.G955R|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G955R|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 955 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CAAGAAAAAGGGAAAGAAACC 0.493000 15 29 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32831723 32831723 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:32831723C>T ENST00000397452.1 - 9 1002 c.892G>A c.(892-894)Ggg>Agg p.G298R BPIFC_ENST00000534972.1_Missense_Mutation_p.G22R|BPIFC_ENST00000432451.2_Missense_Mutation_p.G112R|BPIFC_ENST00000300399.3_Missense_Mutation_p.G298R Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 298 extracellular region lipopolysaccharide binding|phospholipid binding TTGAAAACCCCAGCTGTGAAA 0.443000 18 15 0 0 1 0 0 HCP5 10866 broad.mit.edu 37 6 31431486 31431486 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:31431486G>A ENST00000414046.2 + 0 558 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 gaggccttgggaaattacctg 0.552000 37 44 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174220 150174220 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:150174220G>A ENST00000307271.3 + 5 1924 c.1350G>A c.(1348-1350)ggG>ggA p.G450G NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 450 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GCGGGACTGGGAAGAGTGCGA 0.547000 42 60 0 0 1 0 0 C2orf83 56918 broad.mit.edu 37 2 228476136 228476136 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:228476136G>A ENST00000264387.4 - 3 513 c.427C>T c.(427-429)Cat>Tat p.H143Y C2orf83_ENST00000409066.1_3'UTR NM_020161.3 NP_064546.3 Q53S99 CB083_HUMAN chromosome 2 open reading frame 83 143 membrane folic acid binding|reduced folate carrier activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 CATCTAGAATGGCTCCAGAGC 0.478000 31 31 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40657610 40657610 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:40657610G>A ENST00000298910.7 + 14 1621 c.1563G>A c.(1561-1563)agG>agA p.R521R LRRK2_ENST00000343742.2_Silent_p.R521R NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 521 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AAGAATCCAGGGAGGATACAG 0.323000 13 16 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104510906 104510906 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:104510906G>A ENST00000304883.2 - 5 1471 c.1331C>T c.(1330-1332)tCc>tTc p.S444F RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 444 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GGCAGATTTGGAATTCCTGCG 0.468000 46 46 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57185697 57185697 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:57185697G>A ENST00000343433.6 - 19 2243 c.2163C>T c.(2161-2163)ttC>ttT p.F721F NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 721 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CAGCTTACTTGAAATCTAGAT 0.274000 4 20 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99013316 99013316 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:99013316G>A ENST00000393504.1 + 8 2100 c.1683G>A c.(1681-1683)ggG>ggA p.G561G CNGA3_ENST00000272602.2_Silent_p.G561G|CNGA3_ENST00000409937.1_Silent_p.G565G|CNGA3_ENST00000436404.2_Silent_p.G543G NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 561 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GCAAGTCGGGGAACCGCAGGA 0.592000 42 75 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7441863 7441863 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:7441863G>A ENST00000318881.6 + 6 1701 c.1464G>A c.(1462-1464)gtG>gtA p.V488V NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 488 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) ATTCCCTGGTGGAGGTAAGAC 0.488000 29 3 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150832719 150832719 + Missense_Mutation SNP G G A rs72349307 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:150832719G>A ENST00000370357.4 + 11 1215 c.970G>A c.(970-972)Gac>Aac p.D324N NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 324 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GGACCAGCAGGACCCAGAGAA 0.617000 29 1 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40850360 40850360 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:40850360G>A ENST00000255224.3 - 4 1592 c.1224C>T c.(1222-1224)atC>atT p.I408I SYT4_ENST00000590752.1_Silent_p.I390I|SYT4_ENST00000586678.1_5'UTR NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 408 cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GGTAGTCACAGATCTCTTTCC 0.498000 68 98 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73042618 73042618 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:73042618G>A ENST00000604411.1 + 0 30579 XIST_ENST00000429829.1_lincRNA NR_003255.2 TCGTATGAACGAAAAAATAAA 0.343000 12 0 0 0 1 0 0 PSIP1 11168 broad.mit.edu 37 9 15469323 15469323 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:15469323C>T ENST00000380733.4 - 12 1388 c.1045G>A c.(1045-1047)Gat>Aat p.D349N PSIP1_ENST00000380738.4_Missense_Mutation_p.D349N O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 349 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) AGTCGAGAATCCATTGATGTT 0.284000 23 2 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227843230 227843230 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:227843230C>T ENST00000343776.4 + 4 1624 c.1279C>T c.(1279-1281)Cat>Tat p.H427Y ZNF678_ENST00000397097.3_Missense_Mutation_p.H482Y|ZNF678_ENST00000498759.1_Intron F5GXA7 F5GXA7_HUMAN zinc finger protein 678 482 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) TAAGAGAATTCATACTGGAGA 0.368000 12 33 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128956418 128956418 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:128956418G>A ENST00000274487.4 + 9 1713 c.1568G>A c.(1567-1569)cGa>cAa p.R523Q CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 523 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R523Q(1) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TCATGGTCTCGATGTAGCAAG 0.388000 58 76 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50056163 50056163 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:50056163C>T ENST00000281631.5 + 5 470 c.312C>T c.(310-312)tcC>tcT p.S104S PARP8_ENST00000514067.2_Silent_p.S104S|PARP8_ENST00000505554.1_Silent_p.S83S|PARP8_ENST00000503750.2_Silent_p.S104S|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Silent_p.S104S|PARP8_ENST00000511363.2_Intron NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 104 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) GTTGCTTATCCATAAAATCCA 0.234000 8 16 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518042 84518042 + RNA SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:84518042C>T ENST00000331369.5 + 0 236 GCTGTTTGGGCCAGAATCTGG 0.512000 15 24 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59061522 59061522 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:59061522C>T ENST00000253024.5 + 16 2491 c.2202C>T c.(2200-2202)ccC>ccT p.P734P TRIM28_ENST00000341753.6_Silent_p.P652P NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 734 Bromo. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) AGGACCAGCCCGGTGGCACCC 0.607000 12 14 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108296932 108296932 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:108296932C>T ENST00000520734.1 - 6 868 c.583G>A c.(583-585)Gga>Aga p.G195R ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G194R Q15389 ANGP1_HUMAN angiopoietin 1 395 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TTTTCATTTCCTATGTGGAAT 0.378000 23 27 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155239494 155239494 + Missense_Mutation SNP G G A rs146292560 by1000genomes TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:155239494G>A ENST00000368361.4 - 3 499 c.184C>T c.(184-186)Cgt>Tgt p.R62C CLK2_ENST00000536801.1_Missense_Mutation_p.R62C|CLK2_ENST00000355560.4_Missense_Mutation_p.R61C|CLK2_ENST00000361168.5_Missense_Mutation_p.R62C P49760 CLK2_HUMAN CDC-like kinase 2 62 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCGGACGAACGATCATCATAA 0.498000 Other conserved DNA damage response genes 33 87 0 0 1 0 0 ERGIC3 51614 broad.mit.edu 37 20 34135216 34135216 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:34135216C>T ENST00000348547.2 + 5 498 c.421C>T c.(421-423)Cgc>Tgc p.R141C ERGIC3_ENST00000357394.4_Missense_Mutation_p.R141C|ERGIC3_ENST00000279052.6_Missense_Mutation_p.R141C|ERGIC3_ENST00000447986.1_Missense_Mutation_p.R141C NM_015966.2 NP_057050.1 Q9Y282 ERGI3_HUMAN ERGIC and golgi 3 141 vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1) 16 Lung NSC(9;0.00489)|all_lung(11;0.00729) BRCA - Breast invasive adenocarcinoma(18;0.0127) GGACCCTGATCGCTGTGAGAG 0.597000 25 22 0 0 1 0 0 GSS 2937 broad.mit.edu 37 20 33517323 33517323 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:33517323G>A ENST00000216951.2 - 12 1280 c.1182C>T c.(1180-1182)tcC>tcT p.S394S GSS_ENST00000451957.2_Silent_p.S283S|GSS_ENST00000541098.1_Silent_p.S266S NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 394 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TGAGGATGTAGGAGGCCCTCT 0.552000 93 207 0 0 1 0 0 CREB3L4 148327 broad.mit.edu 37 1 153946425 153946425 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:153946425G>A ENST00000368607.3 + 10 1338 c.1072G>A c.(1072-1074)Gag>Aag p.E358K CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368603.1_Missense_Mutation_p.E358K|CREB3L4_ENST00000368600.3_Missense_Mutation_p.E338K|CREB3L4_ENST00000271889.4_Missense_Mutation_p.E358K|CREB3L4_ENST00000405694.3_Missense_Mutation_p.E211K NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 358 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGACTGAGGGAGCCACCTGG 0.552000 34 25 0 0 1 0 0 OR11H4 390442 broad.mit.edu 37 14 20711345 20711345 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:20711345G>A ENST00000315409.2 + 1 448 c.395G>A c.(394-396)cGa>cAa p.R132Q NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) GCTTATGATCGATACCTGGCC 0.468000 23 18 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633363 70633363 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:70633363C>T ENST00000381269.2 - 2 2530 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K SLC8A3_ENST00000534137.1_Missense_Mutation_p.E593K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E593K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E593K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E593K NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 593 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TACACAGTTTCATCATTCTTG 0.468000 10 22 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255502 140255502 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:140255502G>A ENST00000398631.2 + 1 445 c.445G>A c.(445-447)Gac>Aac p.D149N PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCCTCTGGACTCTCATTT 0.458000 32 32 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66963846 66963846 + Missense_Mutation SNP G G A rs141686243 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:66963846G>A ENST00000276570.5 + 3 351 c.64G>A c.(64-66)Gaa>Aaa p.E22K DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 22 J. protein folding membrane heat shock protein binding|unfolded protein binding p.E22K(2) endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) AGCTCTATACGAAATTCTTGG 0.398000 35 33 0 0 1 0 0 DNAAF3 352909 broad.mit.edu 37 19 55677431 55677431 + Splice_Site SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:55677431C>T ENST00000527223.2 - 3 228 c.226_splice c.e3-1 p.R76_splice DNAAF3_ENST00000524407.2_Intron|DNAAF3_ENST00000391720.4_Intron|CTD-2587H24.5_ENST00000591665.1_RNA NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 28 CGTAGCATCCCCTATAAAAAA 0.572000 OREG0025679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179545869 179545869 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:179545869C>T ENST00000589042.1 - 138 33501 c.33277G>A c.(33277-33279)Gaa>Aaa p.E11093K TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10776K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9849K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10776 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGTATTTTTTCCTCAAAAACT 0.318000 11 10 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45724608 45724608 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:45724608C>T ENST00000297323.7 + 12 2036 c.2014C>T c.(2014-2016)Cgc>Tgc p.R672C NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 672 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GATTCAGATTCGCACTGTCCT 0.453000 104 117 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40657611 40657611 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:40657611G>A ENST00000298910.7 + 14 1622 c.1564G>A c.(1564-1566)Gag>Aag p.E522K LRRK2_ENST00000343742.2_Missense_Mutation_p.E522K NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 522 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGAATCCAGGGAGGATACAGA 0.323000 12 17 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42700097 42700097 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:42700097G>A ENST00000230882.4 + 6 801 c.611G>A c.(610-612)tGg>tAg p.W204* GHR_ENST00000537449.1_Nonsense_Mutation_p.W17*|GHR_ENST00000357703.3_Nonsense_Mutation_p.W182* NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 204 Fibronectin type-III. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GAAACTAAATGGAAAATGGTA 0.358000 4 6 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90661507 90661507 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:90661507G>A ENST00000257749.4 - 7 1025 c.318C>T c.(316-318)atC>atT p.I106I BACH2_ENST00000537989.1_Silent_p.I106I|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.I106I NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 106 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TGACCTCGCGGATGTTTTCTC 0.562000 14 11 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67365778 67365778 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:67365778C>T ENST00000382713.5 + 5 738 c.548C>T c.(547-549)tCa>tTa p.S183L DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 183 IRS-type PTB. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) CCTCTCAGCTCACTGAGGAGA 0.463000 18 14 0 0 1 0 0 CCM2L 140706 broad.mit.edu 37 20 30610479 30610479 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:30610479C>T ENST00000300415.8 + 6 963 c.950C>T c.(949-951)tCc>tTc p.S317F CCM2L_ENST00000262659.8_Missense_Mutation_p.S317F cerebral cavernous malformation 2-like GCAGAGGAGTCCTGCGCACTC 0.552000 32 112 0 0 1 0 0 SHE 126669 broad.mit.edu 37 1 154461711 154461711 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:154461711C>T ENST00000304760.2 - 3 926 c.840G>A c.(838-840)aaG>aaA p.K280K NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 280 breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CCAGGAGGTCCTTGGAACTCC 0.637000 25 60 0 0 1 0 0 SCLT1 132320 broad.mit.edu 37 4 129913336 129913336 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:129913336G>A ENST00000281142.5 - 9 1175 c.672C>T c.(670-672)ctC>ctT p.L224L SCLT1_ENST00000503215.1_Silent_p.L201L|SCLT1_ENST00000434680.1_Silent_p.L224L|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 224 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 GTTTTTTTCGGAGTTGTTCGA 0.303000 5 10 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118629608 118629608 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:118629608G>A ENST00000336338.5 - 11 1448 c.1383C>T c.(1381-1383)ctC>ctT p.L461L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 461 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TGGGTGGGACGAGATCTTCTT 0.522000 31 97 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52509103 52509103 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:52509103G>A ENST00000242839.4 - 21 4343 c.4187C>T c.(4186-4188)aCg>aTg p.T1396M ATP7B_ENST00000344297.5_Missense_Mutation_p.T1189M|ATP7B_ENST00000400366.3_Missense_Mutation_p.T1285M|ATP7B_ENST00000400370.3_Missense_Mutation_p.T966M|ATP7B_ENST00000417240.2_Missense_Mutation_p.T607M|ATP7B_ENST00000418097.2_Missense_Mutation_p.T1331M|ATP7B_ENST00000448424.2_Missense_Mutation_p.T1318M NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1396 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTGGGATGCCGTCAGGGGCTT 0.587000 Wilson disease 14 35 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59764311 59764311 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:59764311C>T ENST00000361421.1 - 4 685 c.465G>A c.(463-465)atG>atA p.M155I NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 155 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TCATGGCTGCCATCTGAGGAT 0.428000 29 36 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234676975 234676975 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:234676975G>A ENST00000360418.3 + 4 1194 c.1194G>A c.(1192-1194)atG>atA p.M398I UGT1A10_ENST00000373445.1_Missense_Mutation_p.M395I|UGT1A4_ENST00000373409.3_Missense_Mutation_p.M399I|UGT1A5_ENST00000373414.3_Missense_Mutation_p.M399I|UGT1A1_ENST00000305208.5_Missense_Mutation_p.M398I|UGT1A8_ENST00000373450.4_Missense_Mutation_p.M395I|UGT1A7_ENST00000373426.3_Missense_Mutation_p.M395I|UGT1A9_ENST00000354728.4_Missense_Mutation_p.M395I|UGT1A10_ENST00000344644.5_Missense_Mutation_p.M395I|UGT1A3_ENST00000482026.1_Missense_Mutation_p.M399I|UGT1A6_ENST00000305139.6_Missense_Mutation_p.M397I|UGT1A6_ENST00000406651.1_Missense_Mutation_p.M130I|UGT1A6_ENST00000373424.1_Missense_Mutation_p.M130I P22309 UD11_HUMAN 398 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GTGATCAGATGGACAATGCAA 0.458000 23 31 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830189 61830189 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:61830189T>G ENST00000280772.1 - 37 10641 c.10450A>C c.(10450-10452)Agt>Cgt p.S3484R ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3484 Poly-Ser. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GATGAAGAACTTTTAGAAGGT 0.473000 26 18 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161496333 161496333 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:161496333C>T ENST00000309758.4 + 1 2298 c.1885C>T c.(1885-1887)Cgc>Tgc p.R629C NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 629 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CACTCAAGCCCGCCAGGGGGA 0.602000 8 12 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14022147 14022147 + Silent SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:14022147C>A ENST00000382080.1 - 5 1204 c.489G>T c.(487-489)gtG>gtT p.V163V RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Silent_p.V116V NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 150 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CAGAAAACAGCACCCTGCCAT 0.408000 8 35 0.0381472 0.0382988 1 1 0 MUC17 140453 broad.mit.edu 37 7 100685177 100685177 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:100685177C>T ENST00000306151.4 + 3 10544 c.10480C>T c.(10480-10482)Cca>Tca p.P3494S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3494 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACTTCTTCTCCAACCAATTC 0.493000 221 250 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198685931 198685931 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:198685931G>A ENST00000367376.2 + 13 1577 c.1406G>A c.(1405-1407)gGa>gAa p.G469E PTPRC_ENST00000594404.1_Missense_Mutation_p.G308E|PTPRC_ENST00000348564.6_Missense_Mutation_p.G310E|PTPRC_ENST00000352140.3_Missense_Mutation_p.G421E|PTPRC_ENST00000442510.2_Missense_Mutation_p.G471E NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 469 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CAACGTAATGGAAGTGCTGCA 0.299000 15 20 0 0 1 0 0 ADGRE4P 326342 broad.mit.edu 37 19 6984845 6984845 + RNA SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:6984845C>T ENST00000600751.1 - 0 270 NR_024075.1 AGCCCGGTTTCACATTCATTA 0.338000 3 4 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415646 86415646 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:86415646G>A ENST00000361669.2 + 3 1637 c.538G>A c.(538-540)Gat>Aat p.D180N GRM3_ENST00000439827.1_Missense_Mutation_p.D180N|GRM3_ENST00000536043.1_Missense_Mutation_p.D52N|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D178N|AC005009.2_ENST00000452471.1_RNA NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 180 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CAAACTCAGTGATAAGTCGCG 0.552000 94 111 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153220911 153220911 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:153220911G>A ENST00000310441.7 - 17 3905 c.2939C>T c.(2938-2940)tCc>tTc p.S980F HCFC1_ENST00000369984.4_Missense_Mutation_p.S980F|HCFC1_ENST00000354233.3_Missense_Mutation_p.S911F NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 980 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCCAGAATGGACACAGGGAG 0.637000 24 1 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802431 185802431 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:185802431C>T ENST00000302277.6 + 4 2902 c.2308C>T c.(2308-2310)Cga>Tga p.R770* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 770 intracellular zinc ion binding p.R770*(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAGATTCTATCGAAAACGTAG 0.338000 16 27 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151338846 151338846 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:151338846G>A ENST00000435071.1 - 7 1018 c.556C>T c.(556-558)Ccc>Tcc p.P186S SELENBP1_ENST00000368868.5_Missense_Mutation_p.P250S|SELENBP1_ENST00000426705.2_Missense_Mutation_p.P292S|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P188S Q13228 SBP1_HUMAN selenium binding protein 1 250 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATCTCCAAGGGAATAAGCCCA 0.572000 52 134 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25888039 25888039 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:25888039C>T ENST00000376351.3 + 11 3843 c.3484C>T c.(3484-3486)Cag>Tag p.Q1162* GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1162 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TAATAACTTCCAGCAACCTTT 0.438000 10 19 0 0 1 0 0 TFEB 7942 broad.mit.edu 37 6 41655521 41655521 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:41655521C>T ENST00000394283.1 - 6 1923 c.697G>A c.(697-699)Gag>Aag p.E233K TFEB_ENST00000358871.2_Missense_Mutation_p.E247K|TFEB_ENST00000373033.1_Missense_Mutation_p.E233K|TFEB_ENST00000420312.1_Missense_Mutation_p.E148K|TFEB_ENST00000403298.4_Missense_Mutation_p.E233K|TFEB_ENST00000230323.4_Missense_Mutation_p.E233K P19484 TFEB_HUMAN transcription factor EB 233 embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TTCTGCCGCTCCTTGGCCAGG 0.577000 T ALPHA renal (childhood epithelioid) 34 54 0 0 1 0 0 SDR16C5 195814 broad.mit.edu 37 8 57218211 57218211 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:57218211C>T ENST00000396721.2 - 5 779 c.649G>A c.(649-651)Gaa>Aaa p.E217K SDR16C5_ENST00000303749.3_Missense_Mutation_p.E261K|SDR16C5_ENST00000522671.1_Missense_Mutation_p.E261K Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 261 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 TACATTTTTTCTTGTAGAATA 0.313000 12 14 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26534448 26534448 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:26534448G>A ENST00000333478.6 - 8 2133 c.1551C>T c.(1549-1551)gtC>gtT p.V517V GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.V647V|GPR113_ENST00000311519.1_Silent_p.V716V|GPR113_ENST00000541401.1_Silent_p.V319V NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 716 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATCCCAGAAGACACAGTGAG 0.602000 27 31 0 0 1 0 0 NFE2L1 4779 broad.mit.edu 37 17 46135680 46135680 + Silent SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:46135680A>G ENST00000362042.3 + 6 1612 c.996A>G c.(994-996)gcA>gcG p.A332A NFE2L1_ENST00000583378.1_Silent_p.A133A|NFE2L1_ENST00000585291.1_Silent_p.A302A|NFE2L1_ENST00000582155.1_Silent_p.A144A|NFE2L1_ENST00000361665.3_Silent_p.A321A|NFE2L1_ENST00000357480.5_Silent_p.A302A|NFE2L1_ENST00000536222.1_Silent_p.A176A NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 332 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACACATCAGCAAGTGAAATCC 0.567000 31 38 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764517 140764517 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:140764517C>T ENST00000518325.1 + 1 2051 c.2051C>T c.(2050-2052)cCt>cTt p.P684L PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGACGGTCCTTACAACTAT 0.632000 25 26 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241537805 241537805 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:241537805C>T ENST00000391984.2 + 11 2176 c.1980C>T c.(1978-1980)ttC>ttT p.F660F CAPN10_ENST00000354082.4_Silent_p.F505F|CAPN10_ENST00000404753.3_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Silent_p.F126F NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 660 actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TGGGCCAGTTCCTCCAAGAGG 0.622000 15 19 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69252767 69252767 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:69252767G>A ENST00000551568.1 - 8 1085 c.1025C>T c.(1024-1026)cCc>cTc p.P342L CPM_ENST00000546373.1_Missense_Mutation_p.P342L|CPM_ENST00000338356.3_Missense_Mutation_p.P342L NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 342 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GGTTCTATAGGGGCAGATATG 0.333000 20 34 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876260 35876260 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:35876260C>T ENST00000303115.3 + 8 1181 c.1052C>T c.(1051-1053)tCt>tTt p.S351F IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 351 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AACTGCCCATCTGAGGATGTA 0.502000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 17 15 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47101933 47101933 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:47101933G>A ENST00000261292.4 + 5 1044 c.766G>A c.(766-768)Gat>Aat p.D256N LIPG_ENST00000580036.1_Missense_Mutation_p.D256N|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Missense_Mutation_p.D292N NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 256 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 p.D256N(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 TGGACTCAACGATGTCTTGGG 0.483000 9 19 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756558 248756558 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:248756558G>A ENST00000330500.2 - 1 542 c.512C>T c.(511-513)tCc>tTc p.S171F NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AATCTCATGGGATCTGCAGAA 0.507000 45 43 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15870016 15870016 + Missense_Mutation SNP G G C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:15870016G>C ENST00000338282.6 - 8 914 c.808C>G c.(808-810)Cgg>Ggg p.R270G MYH11_ENST00000576790.1_Missense_Mutation_p.R270G|MYH11_ENST00000452625.2_Missense_Mutation_p.R277G|MYH11_ENST00000396324.3_Missense_Mutation_p.R277G|MYH11_ENST00000300036.5_Missense_Mutation_p.R270G NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 270 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CGAATTGCCCGTGATTTTTCT 0.493000 T CBFB AML 44 60 0 0 1 0 0 ABI3 51225 broad.mit.edu 37 17 47294040 47294040 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:47294040C>T ENST00000225941.1 + 2 763 c.265C>T c.(265-267)Cgt>Tgt p.R89C ABI3_ENST00000419580.2_Missense_Mutation_p.R89C NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 89 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) GGTGGAAGCCCGTGTAAGCAC 0.642000 HNSCC(55;0.14) 4 7 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62733964 62733964 + Silent SNP G G A rs143575291 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:62733964G>A ENST00000371153.4 - 5 2604 c.2226C>T c.(2224-2226)gcC>gcT p.A742A KANK4_ENST00000371150.1_Silent_p.A98A|KANK4_ENST00000354381.3_Silent_p.A114A NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 742 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 CTCACCTCTCGGCCTTGGAGT 0.557000 11 20 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50850753 50850753 + Splice_Site SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:50850753C>T ENST00000404971.1 - 7 2271 c.931_splice c.e7-1 p.G311_splice NRXN1_ENST00000406859.3_Splice_Site_p.R278_splice|NRXN1_ENST00000406316.2_Splice_Site_p.G278_splice|NRXN1_ENST00000401669.2_Splice_Site_p.G278_splice|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Splice_Site_p.R278_splice|NRXN1_ENST00000405472.3_Splice_Site_p.G278_splice NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 278 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTCTTCTTTTCCTAGAGGAAA 0.363000 11 7 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135307286 135307286 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:135307286G>A ENST00000367837.5 - 11 1547 c.1341C>T c.(1339-1341)ctC>ctT p.L447L HBS1L_ENST00000445176.2_Silent_p.L171L|HBS1L_ENST00000367826.2_Silent_p.L405L|HBS1L_ENST00000367824.4_Silent_p.L283L|HBS1L_ENST00000415177.2_Silent_p.L382L|HBS1L_ENST00000527578.1_Silent_p.L283L NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 447 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) TTTCACCACTGAGACCACTTG 0.303000 18 17 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26203600 26203600 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:26203600T>A ENST00000264712.3 - 1 1766 c.1187A>T c.(1186-1188)aAg>aTg p.K396M KIF3C_ENST00000405914.1_Missense_Mutation_p.K396M NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 396 blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATCCCCCTCTTCTCCAGCTG 0.637000 27 35 0 0 1 0 0 SLC25A21 89874 broad.mit.edu 37 14 37180534 37180534 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:37180534G>A ENST00000331299.5 - 7 1107 c.592C>T c.(592-594)Cct>Tct p.P198S SLC25A21_ENST00000555449.1_Missense_Mutation_p.P198S NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 198 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TTATTGACAGGAATCATGTTT 0.373000 9 18 0 0 1 0 0 YJEFN3 374887 broad.mit.edu 37 19 19646388 19646388 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:19646388C>T ENST00000555938.1 + 7 603 c.591C>T c.(589-591)ggC>ggT p.G197G YJEFN3_ENST00000514277.3_Silent_p.G198G|YJEFN3_ENST00000436027.4_Silent_p.G148G CCGTACTGGGCCCCGGCGTGG 0.697000 12 12 0 0 1 0 0 GLIPR1L1 256710 broad.mit.edu 37 12 75737656 75737656 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:75737656G>A ENST00000312442.2 + 2 404 c.358G>A c.(358-360)Gaa>Aaa p.E120K CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.E120K NM_152779.2 NP_689992.1 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 120 extracellular region endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 TTGGTATAATGAAACCCAATT 0.333000 15 17 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47609012 47609012 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:47609012G>A ENST00000371891.3 + 5 613 c.582G>A c.(580-582)ctG>ctA p.L194L CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.L194L|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.L194L NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 194 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGATGACCCTGGACACCATCA 0.567000 22 24 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120301901 120301901 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:120301901C>T ENST00000369406.3 - 4 739 c.690G>A c.(688-690)ctG>ctA p.L230L HMGCS2_ENST00000476640.1_Intron|HMGCS2_ENST00000544913.2_Silent_p.L188L NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 230 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GGGTTCCCCTCAGCCCTGGAA 0.458000 26 19 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40114947 40114947 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:40114947C>T ENST00000324616.5 + 13 2007 c.1853C>T c.(1852-1854)tCa>tTa p.S618L NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 618 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 GATCTAATTTCAAAATGTACA 0.413000 18 14 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102183031 102183031 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:102183031G>A ENST00000306176.1 + 7 845 c.745G>A c.(745-747)Gat>Aat p.D249N ZPLD1_ENST00000491959.1_Missense_Mutation_p.D233N|ZPLD1_ENST00000466937.1_Missense_Mutation_p.D233N NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 233 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 TGTTTTAATGGATTATTGCTA 0.318000 23 38 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885802 88885802 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:88885802G>A ENST00000319675.3 - 1 494 c.398C>T c.(397-399)gCc>gTc p.A133V NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 133 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ATTCAGTGAGGCCCAGCACAT 0.562000 29 31 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2019087 2019087 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:2019087G>A ENST00000382722.5 - 4 833 c.471C>T c.(469-471)ttC>ttT p.F157F CACNA2D4_ENST00000585708.1_Silent_p.F93F|CACNA2D4_ENST00000588077.1_Silent_p.F93F|CACNA2D4_ENST00000585732.1_Silent_p.F157F|CACNA2D4_ENST00000587995.1_Silent_p.F157F|CACNA2D4_ENST00000586184.1_Silent_p.F157F NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 157 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GGGATTCATTGAATTCGTGGT 0.592000 9 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9017438 9017438 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:9017438C>T ENST00000397910.4 - 26 38089 c.37886G>A c.(37885-37887)aGg>aAg p.R12629K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12631 SEA 4. L -> V (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGCTGCTCCCTGTCCACTCC 0.587000 40 60 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123279642 123279642 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:123279642C>T ENST00000358487.5 - 7 1062 c.790G>A c.(790-792)Gca>Aca p.A264T FGFR2_ENST00000457416.2_Missense_Mutation_p.A264T|FGFR2_ENST00000346997.2_Missense_Mutation_p.A264T|FGFR2_ENST00000369056.1_Missense_Mutation_p.A264T|FGFR2_ENST00000351936.6_Missense_Mutation_p.A264T|FGFR2_ENST00000369059.1_Missense_Mutation_p.A149T|FGFR2_ENST00000369060.4_Missense_Mutation_p.A264T|FGFR2_ENST00000478859.1_Missense_Mutation_p.A36T|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000356226.4_Missense_Mutation_p.A149T|FGFR2_ENST00000357555.5_Missense_Mutation_p.A175T|FGFR2_ENST00000360144.3_Missense_Mutation_p.A175T NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 264 Ig-like C2-type 3. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GAGGCATTTGCCGGCAGTCCG 0.552000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 6 7 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149294570 149294570 + Splice_Site SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:149294570C>T ENST00000255266.5 - 6 1053 c.933_splice c.e6-1 p.E312_splice NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 312 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AAGTTAATTTCCTGGCAAAAG 0.368000 22 22 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42231194 42231194 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:42231194C>T ENST00000221992.6 + 9 2181 c.2067C>T c.(2065-2067)gtC>gtT p.V689V CEACAM5_ENST00000398599.4_Silent_p.V688V|CEACAM5_ENST00000405816.1_Silent_p.V689V|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 689 V -> A (in Ref. 3; AAA62835). anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GGGCCACTGTCGGCATCATGA 0.473000 126 174 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187201436 187201436 + Missense_Mutation SNP G G T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:187201436G>T ENST00000264692.4 + 9 1102 c.769G>T c.(769-771)Gtt>Ttt p.V257F F11_ENST00000403665.2_Missense_Mutation_p.V309F P03951 FA11_HUMAN coagulation factor XI 309 Apple 3. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) ACTGGATATTGTTGCTGCAAA 0.498000 5 109 1 1 1 1 0 ZNF239 8187 broad.mit.edu 37 10 44053108 44053108 + Missense_Mutation SNP A A C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:44053108A>C ENST00000306006.6 - 2 1072 c.420T>G c.(418-420)aaT>aaG p.N140K ZNF239_ENST00000535642.1_Missense_Mutation_p.N140K|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Missense_Mutation_p.N140K|ZNF239_ENST00000374446.2_Missense_Mutation_p.N140K NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TTAACTGGCCATTCTGGCAAG 0.438000 23 31 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159163717 159163717 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:159163717C>T ENST00000368125.4 + 5 735 c.578C>T c.(577-579)tCg>tTg p.S193L CADM3_ENST00000368124.4_Missense_Mutation_p.S227L NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 193 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity p.S227L(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) GTCAGCAGCTCGGTGACATTC 0.522000 21 15 0 0 1 0 0 QRSL1 55278 broad.mit.edu 37 6 107100110 107100110 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:107100110C>T ENST00000369046.4 + 6 688 c.584C>T c.(583-585)tCg>tTg p.S195L QRSL1_ENST00000369044.1_Missense_Mutation_p.S195L NM_018292.4 NP_060762.3 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 195 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) ACAGGAGGATCGACCAGAAAT 0.408000 19 30 0 0 1 0 0 IWS1 55677 broad.mit.edu 37 2 128262741 128262741 + Silent SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:128262741A>G ENST00000295321.4 - 3 997 c.738T>C c.(736-738)cgT>cgC p.R246R AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Silent_p.R253R NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 246 3 X approximate tandem repeats.|Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) AGTCACTGATACGAGGTTTGG 0.522000 72 89 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 3 28 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123813765 123813765 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:123813765G>A ENST00000321252.2 - 1 815 c.781C>T c.(781-783)Cgt>Tgt p.R261C NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCTGACATACGAATGTAGAGA 0.517000 55 6 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5963220 5963220 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:5963220G>A ENST00000356134.5 - 4 681 c.610C>T c.(610-612)Cct>Tct p.P204S ANO2_ENST00000327087.8_Missense_Mutation_p.P204S|ANO2_ENST00000546188.1_Missense_Mutation_p.P204S NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 208 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TTCTTGGTAGGAACTTTGATC 0.507000 33 72 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13529258 13529258 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:13529258C>T ENST00000318426.2 - 2 299 c.82G>A c.(82-84)Gaa>Aaa p.E28K C12orf36_ENST00000532841.1_Missense_Mutation_p.E28K|C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Missense_Mutation_p.E28K|C12orf36_ENST00000527705.2_Missense_Mutation_p.E28K chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) gaagtgtcttcatcaggaaca 0.473000 3 11 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147016597 147016597 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:147016597G>A ENST00000265272.5 - 11 2012 c.1545C>T c.(1543-1545)ctC>ctT p.L515L JAKMIP2_ENST00000507386.1_Silent_p.L515L|JAKMIP2_ENST00000333010.6_Silent_p.L473L NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 515 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCTGCTTGGAGCTGTTCTT 0.438000 37 48 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136681884 136681884 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:136681884C>T ENST00000354570.3 - 13 2164 c.1754G>A c.(1753-1755)cGa>cAa p.R585Q MAP7_ENST00000438100.2_Missense_Mutation_p.R570Q|MAP7_ENST00000544465.1_Missense_Mutation_p.R570Q|MAP7_ENST00000432797.2_Missense_Mutation_p.R439Q|MAP7_ENST00000454590.1_Missense_Mutation_p.R607Q NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 585 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) ATGCTTCTCTCGTTCCTGCCG 0.552000 166 197 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56863296 56863296 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:56863296G>A ENST00000520220.2 + 6 651 c.377G>A c.(376-378)gGa>gAa p.G126E LYN_ENST00000519728.1_Missense_Mutation_p.G147E NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 147 erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TTGGCACCAGGAAATAGCGCT 0.373000 14 37 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31621780 31621780 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:31621780G>A ENST00000331728.4 + 2 205 c.91G>A c.(91-93)Gaa>Aaa p.E31K LIMK2_ENST00000406516.1_Intron|LIMK2_ENST00000444929.2_Missense_Mutation_p.E31K NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 31 LIM zinc-binding 1. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding p.E31K(1) endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GACTGTCAACGAAACCTGGCA 0.512000 5 11 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93716288 93716288 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:93716288T>G ENST00000265990.6 + 7 1013 c.705T>G c.(703-705)aaT>aaG p.N235K NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 235 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TTTTTAGCAATGATAGCACTG 0.303000 6 11 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48221216 48221216 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:48221216G>A ENST00000394747.1 - 20 3178 c.2829C>T c.(2827-2829)gtC>gtT p.V943V ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Silent_p.V943V|ABCC11_ENST00000353782.5_Silent_p.V943V|ABCC11_ENST00000356608.2_Silent_p.V943V NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 943 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TTAAGGACAGGACCAGGAACT 0.473000 16 30 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17084434 17084434 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:17084434G>A ENST00000418129.2 + 4 3174 c.2709G>A c.(2707-2709)caG>caA p.Q903Q PLCL2-AS1_ENST00000414844.2_RNA|PLCL2_ENST00000396755.2_Silent_p.Q903Q|PLCL2_ENST00000432376.1_Silent_p.Q903Q NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1029 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TACATTGTCAGAAGGCAGGTA 0.358000 36 46 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56485056 56485056 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:56485056G>A ENST00000291971.3 + 7 2644 c.2573G>A c.(2572-2574)aGc>aAc p.S858N NLRP8_ENST00000590542.1_Intron NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 858 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ACTTGTGAAAGCCTTGCCTCC 0.498000 67 97 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103067472 103067472 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:103067472C>T ENST00000264260.2 + 11 1964 c.1375C>T c.(1375-1377)Cca>Tca p.P459S IL18RAP_ENST00000409369.1_Missense_Mutation_p.P317S NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 459 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AGATGTGGCTCCAGGAGGAGG 0.403000 18 18 0 0 1 0 0 UBTD2 92181 broad.mit.edu 37 5 171639123 171639123 + Missense_Mutation SNP A A T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:171639123A>T ENST00000393792.2 - 3 821 c.416T>A c.(415-417)cTg>cAg p.L139Q NM_152277.2 NP_689490.2 Q8WUN7 UBTD2_HUMAN ubiquitin domain containing 2 139 cytoplasm cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGGAATATCCAGAGTCTCTAT 0.488000 25 46 0 0 1 0 0 DDX50 79009 broad.mit.edu 37 10 70679599 70679599 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:70679599C>T ENST00000373585.3 + 8 1208 c.1101C>T c.(1099-1101)atC>atT p.I367I NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 367 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 ATTTGGCCATCCAGTGTCATT 0.358000 20 33 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39162472 39162472 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:39162472G>A ENST00000359534.3 - 3 701 c.363C>T c.(361-363)ttC>ttT p.F121F NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 121 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GCGGCACCCCGAAGAGACCAT 0.587000 46 57 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44107417 44107417 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:44107417C>T ENST00000262726.7 - 10 1222 c.969G>A c.(967-969)aaG>aaA p.K323K EFCAB6_ENST00000358439.4_Silent_p.K217K|EFCAB6_ENST00000396231.2_Silent_p.K171K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 323 EF-hand 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CGAGGACAATCTTTAGATAAT 0.373000 9 23 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196699017 196699017 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:196699017C>T ENST00000312428.6 - 48 9113 c.9013G>A c.(9013-9015)Gaa>Aaa p.E3005K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3005 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTGGCTTTTTCCATGTTCTTG 0.408000 17 15 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140223141 140223141 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:140223141G>A ENST00000531613.1 + 1 2235 c.2235G>A c.(2233-2235)gtG>gtA p.V745V PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.V745V|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGTGCGGTGGGGAGCTGGT 0.667000 25 25 0 0 1 0 0 RND3 390 broad.mit.edu 37 2 151326666 151326666 + Silent SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:151326666A>G ENST00000375734.2 - 5 819 c.570T>C c.(568-570)ttT>ttC p.F190F RND3_ENST00000409557.1_Silent_p.F61F|RND3_ENST00000263895.4_Silent_p.F190F NM_001254738.1 NP_001241667.1 P61587 RND3_HUMAN Rho family GTPase 3 190 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.106) TGGCAACGTGAAAAATGTCTC 0.433000 30 49 0 0 1 0 0 CDT1 81620 broad.mit.edu 37 16 88873800 88873800 + Missense_Mutation SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:88873800A>G ENST00000301019.4 + 9 2006 c.1387A>G c.(1387-1389)Agc>Ggc p.S463G NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 463 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) CGTGCTGCGGAGCGTCTTTGT 0.647000 17 21 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064768 7064768 + Missense_Mutation SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:7064768C>A ENST00000299481.4 + 4 1857 c.1511C>A c.(1510-1512)tCc>tAc p.S504Y NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 504 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GGGAACCCTTCCTGCCAGCCT 0.408000 54 6 9.22156e-22 9.37927e-22 1 1 0 OR52E8 390079 broad.mit.edu 37 11 5878118 5878118 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:5878118T>A ENST00000537935.1 - 1 846 c.815A>T c.(814-816)aAt>aTt p.N272I TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTGGGATATTATGGCCAAA 0.403000 73 7 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641458 99641458 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:99641458C>T ENST00000345514.2 - 3 1768 c.1502G>A c.(1501-1503)gGg>gAg p.G501E BCL11B_ENST00000357195.3_Missense_Mutation_p.G572E|BCL11B_ENST00000443726.2_Missense_Mutation_p.G378E NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 572 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) cccgggcACCCCACCACCGCC 0.711000 T TLX3 T-ALL 6 7 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25478180 25478180 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:25478180G>A ENST00000381884.4 - 8 2894 c.2709C>T c.(2707-2709)tcC>tcT p.S903S CENPJ_ENST00000545981.1_Silent_p.S903S NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 903 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TCAAAACCTGGGATCGAGCAT 0.368000 22 35 0 0 1 0 0 KIF2A 3796 broad.mit.edu 37 5 61668356 61668356 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:61668356G>A ENST00000407818.3 + 17 1759 c.1738G>A c.(1738-1740)Gac>Aac p.D580N KIF2A_ENST00000506857.1_Intron|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Intron|KIF2A_ENST00000381103.2_Intron NM_001098511.2 NP_001091981.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 551 blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) TGAATATGACGACTTTTCTCC 0.383000 5 3 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53454293 53454293 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:53454293C>T ENST00000314250.6 + 19 3012 c.2722C>T c.(2722-2724)Ccc>Tcc p.P908S TENC1_ENST00000549700.1_Missense_Mutation_p.P843S|TENC1_ENST00000546602.1_Missense_Mutation_p.P811S|TENC1_ENST00000379902.3_Missense_Mutation_p.P784S|TENC1_ENST00000552570.1_Missense_Mutation_p.P908S|TENC1_ENST00000314276.3_Missense_Mutation_p.P918S|TENC1_ENST00000451358.1_Missense_Mutation_p.P898S NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 908 Pro-rich. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 GTTGTCTGGTCCCTCCACGCC 0.632000 20 26 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6426900 6426900 + Missense_Mutation SNP A A T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:6426900A>T ENST00000348035.4 + 2 306 c.93A>T c.(91-93)gaA>gaT p.E31D RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.E31D NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 31 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) TTCCTGGAGAATATATCCCTA 0.358000 42 66 0 0 1 0 0 USP22 23326 broad.mit.edu 37 17 20914557 20914557 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:20914557G>A ENST00000261497.4 - 8 1213 c.1010C>T c.(1009-1011)cCa>cTa p.P337L USP22_ENST00000537526.2_Missense_Mutation_p.P325L|USP22_ENST00000455117.2_Intron NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 337 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 GGGCCAGAATGGGGTGGAAGA 0.617000 5 6 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104494 168104494 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:168104494G>A ENST00000409195.1 + 9 6681 c.6592G>A c.(6592-6594)Gat>Aat p.D2198N XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1976N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2198N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2023 Pro-rich. actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTCTAATAAGGATATAAAGAA 0.378000 15 17 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375679 113375679 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:113375679G>A ENST00000316407.4 - 7 5260 c.4850C>T c.(4849-4851)tCa>tTa p.S1617L KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S1617L NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1617 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 ATGTTCAGATGAAACCCCTGA 0.448000 25 27 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399759 179399759 + Missense_Mutation SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:179399759C>A ENST00000589042.1 - 358 101807 c.101583G>T c.(101581-101583)aaG>aaT p.K33861N TTN_ENST00000460472.2_Missense_Mutation_p.K24796N|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K32220N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K24921N|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K31293N|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K24988N|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32220 Ig-like 149. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAATTTCCTTCTTTACCAAAA 0.353000 14 24 1.49906e-05 1.51102e-05 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13719166 13719166 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:13719166G>A ENST00000265104.4 - 72 12428 c.12324C>T c.(12322-12324)ttC>ttT p.F4108F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4108 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCTCATCCATGAAATCAAGTC 0.443000 Kartagener syndrome 17 9 0 0 1 0 0 MPP5 64398 broad.mit.edu 37 14 67768120 67768120 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:67768120G>A ENST00000261681.4 + 5 1252 c.591G>A c.(589-591)ttG>ttA p.L197L MPP5_ENST00000555925.1_Silent_p.L163L NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 197 Interaction with LIN7C (By similarity).|L27 2. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) AAACTGTTTTGAAGCCAGTTC 0.333000 15 22 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57955268 57955268 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:57955268C>T ENST00000334181.4 + 3 1002 c.752C>T c.(751-753)cCt>cTt p.P251L AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) GGAGAAAGGCCTTATGAGGGC 0.403000 18 29 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602605 96602605 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:96602605G>A ENST00000371321.3 + 7 1055 c.973G>A c.(973-975)Gaa>Aaa p.E325K CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 325 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TAAAGTCCAGGAAGAGATTGA 0.488000 40 33 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 108970443 108970443 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:108970443G>A ENST00000276659.5 - 5 1101 c.481C>T c.(481-483)Cgc>Tgc p.R161C RSPO2_ENST00000378439.2_Missense_Mutation_p.R97C|RSPO2_ENST00000517939.1_Missense_Mutation_p.R94C|RSPO2_ENST00000517781.1_Missense_Mutation_p.R97C NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 161 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CCACATGTGCGATTATTTCTG 0.383000 24 41 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33658413 33658413 + Missense_Mutation SNP G G A rs144000005 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:33658413G>A ENST00000504830.1 - 7 1401 c.1066C>T c.(1066-1068)Cgc>Tgc p.R356C ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R356C|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 356 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCGCAGGGGCGATTGAAACCA 0.498000 HNSCC(64;0.19) 37 38 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56330936 56330936 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:56330936G>A ENST00000370754.5 - 98 22533 c.22534C>T c.(22534-22536)Cgt>Tgt p.R7512C DST_ENST00000370788.2_Missense_Mutation_p.R5137C|DST_ENST00000244364.6_Missense_Mutation_p.R4920C|DST_ENST00000421834.2_Missense_Mutation_p.R5219C|DST_ENST00000361203.3_Missense_Mutation_p.R7223C|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R7008C|DST_ENST00000370769.4_Missense_Mutation_p.R7334C Q03001 DYST_HUMAN dystonin 7332 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCTCCAACACGAACCATCACA 0.433000 10 13 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308966 248308966 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:248308966G>A ENST00000366476.1 + 1 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E173K(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TGGGTCTCGGGAAATAGCCCA 0.428000 89 199 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96180894 96180894 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:96180894G>A ENST00000343702.4 - 2 856 c.408C>T c.(406-408)tcC>tcT p.S136S NTN4_ENST00000553059.1_Silent_p.S136S|NTN4_ENST00000344911.4_Silent_p.S99S|NTN4_ENST00000538383.1_Silent_p.S99S NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 136 Laminin N-terminal. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CCGGCCTGGGGGACTTGAACA 0.517000 9 20 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107834554 107834554 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:107834554G>A ENST00000379028.3 - 17 2162 c.1692C>T c.(1690-1692)tcC>tcT p.S564S NRCAM_ENST00000351718.4_Silent_p.S558S|NRCAM_ENST00000425651.2_Silent_p.S564S|NRCAM_ENST00000379022.4_Silent_p.S564S|NRCAM_ENST00000413765.2_Silent_p.S545S|NRCAM_ENST00000379024.4_Silent_p.S545S Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 564 Ig-like 6. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TGCATTCAAAGGACACCATGC 0.453000 58 57 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315398 30315398 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:30315398C>T ENST00000375377.1 - 3 3780 c.3679G>A c.(3679-3681)Gca>Aca p.A1227T NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1227 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCAGAGCCTGCCACACTTGGG 0.483000 5 89 0 0 1 0 0 SLC25A44 9673 broad.mit.edu 37 1 156169797 156169797 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:156169797C>T ENST00000359511.4 + 2 331 c.159C>T c.(157-159)ctC>ctT p.L53L SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Silent_p.L53L NM_014655.2 NP_055470.1 Q96H78 S2544_HUMAN solute carrier family 25, member 44 53 transmembrane transport integral to membrane|mitochondrial inner membrane binding breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Hepatocellular(266;0.158) GGAAGAGCCTCTACCATGGGA 0.527000 27 15 0 0 1 0 0 ERV3-1 2086 broad.mit.edu 37 7 64452108 64452108 + Missense_Mutation SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:64452108A>G ENST00000394323.2 - 2 1797 c.1297T>C c.(1297-1299)Tgg>Cgg p.W433R NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 433 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 gcccctgaccatttagctggc 0.507000 12 10 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45860722 45860722 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr21:45860722C>T ENST00000397928.1 + 31 4765 c.4320C>T c.(4318-4320)atC>atT p.I1440I TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.I1440I|TRPM2_ENST00000300481.9_Silent_p.I1386I|TRPM2_ENST00000397932.2_Silent_p.I1490I NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1440 Nudix hydrolase. 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 ATGCCTGGATCGAGACGGTGG 0.617000 26 50 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165182996 165182996 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:165182996C>T ENST00000342310.3 - 5 933 c.551G>A c.(550-552)gGa>gAa p.G184E LMX1A_ENST00000294816.2_Missense_Mutation_p.G184E|LMX1A_ENST00000367893.4_Missense_Mutation_p.G184E NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 184 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTCAGCAGTTCCTTTCCCTGC 0.488000 68 159 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204587886 204587886 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:204587886G>A ENST00000367175.1 - 1 3447 c.1235C>T c.(1234-1236)cCc>cTc p.P412L LRRN2_ENST00000367177.3_Missense_Mutation_p.P412L|LRRN2_ENST00000367176.3_Missense_Mutation_p.P412L O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 412 LRRCT. cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) CTCCCGGAAGGGCACCTCACG 0.657000 20 39 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1337436 1337436 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:1337436G>A ENST00000446702.2 + 6 1233 c.606G>A c.(604-606)gaG>gaA p.E202E CNTN6_ENST00000539053.1_Silent_p.E130E|CNTN6_ENST00000350110.2_Silent_p.E202E Q9UQ52 CNTN6_HUMAN contactin 6 202 Ig-like C2-type 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CTAACAAAGAGGCCCAGAGAA 0.428000 17 13 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24344700 24344700 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:24344700G>A ENST00000175238.6 + 11 1044 c.960_splice c.e11-1 p.D321_splice ADAM7_ENST00000520720.1_Splice_Site_p.D93_splice|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Splice_Site_p.D321_splice|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 321 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTATCATCAGGATCTTTTACC 0.408000 15 10 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202662 39202662 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:39202662C>T ENST00000351578.6 - 2 591 c.401G>A c.(400-402)gGa>gAa p.G134E FYB_ENST00000515010.1_Missense_Mutation_p.G134E|FYB_ENST00000505428.1_Missense_Mutation_p.G134E|FYB_ENST00000540520.1_Missense_Mutation_p.G144E|FYB_ENST00000512982.1_Missense_Mutation_p.G134E NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 134 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGGCTTGTTTCCAGGAGGCCA 0.498000 37 30 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40397449 40397449 + Silent SNP C C T rs137879982 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:40397449C>T ENST00000542756.1 - 6 2018 c.1995G>A c.(1993-1995)ccG>ccA p.P665P SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.P662P|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Silent_p.P665P|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000403092.1_Silent_p.P670P|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.P670P|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 670 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TAGAGAGAATCGGATGTTCTC 0.423000 20 22 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3263620 3263620 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:3263620C>T ENST00000602557.1 - 16 2753 c.2198G>A c.(2197-2199)gGa>gAa p.G733E CSMD1_ENST00000400186.3_Missense_Mutation_p.G733E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G733E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G732E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G732E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G732E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G733E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 733 Sushi 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGACTCGGATCCCTGGGTCTT 0.562000 11 15 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2604920 2604920 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:2604920G>A ENST00000358864.1 + 17 2199 c.2184G>A c.(2182-2184)ggG>ggA p.G728G NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 728 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTTCCAGTGGGAAAAACAGAA 0.517000 25 56 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167141091 167141091 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:167141091C>T ENST00000375387.4 - 12 2189 c.1849G>A c.(1849-1851)Ggg>Agg p.G617R AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.G617R|SCN9A_ENST00000409672.1_Missense_Mutation_p.G616R|SCN9A_ENST00000409435.1_Missense_Mutation_p.G616R Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 616 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) TGCATTTTCCCGTTCACCGGC 0.592000 22 28 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375784 93375784 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:93375784C>T ENST00000375765.3 - 2 714 c.326G>A c.(325-327)gGg>gAg p.G109E NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 109 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CTCCACGTCCCCTTTGATCTC 0.592000 63 7 0 0 1 0 0 HCN3 57657 broad.mit.edu 37 1 155257122 155257122 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:155257122C>T ENST00000368358.3 + 7 1644 c.1636C>T c.(1636-1638)Cgc>Tgc p.R546C HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 546 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCGGCTGCTCCGCATCGGTGA 0.597000 19 41 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756350 94756350 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:94756350T>A ENST00000554723.1 - 2 1119 c.701A>T c.(700-702)aAt>aTt p.N234I SERPINA10_ENST00000554173.1_Missense_Mutation_p.N194I|SERPINA10_ENST00000393096.1_Missense_Mutation_p.N194I|SERPINA10_ENST00000261994.4_Missense_Mutation_p.N194I Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 194 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) ATTGCGAAAATTCATAGGCAC 0.398000 16 26 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57604515 57604515 + Silent SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:57604515C>A ENST00000243077.3 + 83 13235 c.12769C>A c.(12769-12771)Cgg>Agg p.R4257R NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4257 EGF-like 18. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCCCACGTGCCGGTGCCCCAC 0.662000 27 61 1.07121e-22 1.09172e-22 1 1 0 REPS2 9185 broad.mit.edu 37 X 17165542 17165542 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:17165542C>T ENST00000357277.3 + 18 2092 c.1921C>T c.(1921-1923)Cat>Tat p.H641Y REPS2_ENST00000303843.7_Missense_Mutation_p.H640Y|REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Missense_Mutation_p.H440Y NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 641 Interaction with ASAP1 (By similarity).|Interaction with RALBP1. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) TCAGGAGGTTCATCAAGAACG 0.408000 91 10 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50786292 50786292 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:50786292G>A ENST00000433963.1 + 17 2973 c.2473G>A c.(2473-2475)Gaa>Aaa p.E825K USP8_ENST00000307179.4_Missense_Mutation_p.E825K|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.E719K|USP8_ENST00000396444.3_Missense_Mutation_p.E825K NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 825 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) GCATAAAGGTGAAGTGGCAGA 0.348000 26 6 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836998 43836998 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:43836998G>A ENST00000372781.3 + 2 1117 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K SEMG1_ENST00000244069.6_Missense_Mutation_p.E294K NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) TTCAAGTACGGAAGAAAGACG 0.408000 29 15 0 0 1 0 0 NAA40 79829 broad.mit.edu 37 11 63719957 63719957 + Silent SNP C C T rs140498456 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:63719957C>T ENST00000377793.4 + 5 431 c.330C>T c.(328-330)atC>atT p.I110I NAA40_ENST00000456907.2_Silent_p.I70I|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000542163.1_Silent_p.I89I|NAA40_ENST00000536939.1_3'UTR NM_024771.2 NP_079047.2 Q86UY6 NAA40_HUMAN N(alpha)-acetyltransferase 40, NatD catalytic subunit 110 N-acetyltransferase. N-acetyltransferase activity NS(1)|endometrium(1)|lung(2)|prostate(1) 5 GGTACCTCATCGCGTGGGAAA 0.567000 69 7 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255091 15255091 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:15255091C>T ENST00000378116.4 - 8 2502 c.2496G>A c.(2494-2496)caG>caA p.Q832Q NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 832 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TCGTCTCCTCCTGCAGGCTGG 0.642000 56 53 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101797334 101797334 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:101797334G>A ENST00000375001.3 + 18 2541 c.2118G>A c.(2116-2118)ggG>ggA p.G706G NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 706 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding p.G706G(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GACCCCCGGGGAAAAAGGGAC 0.617000 52 3 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46292272 46292272 + Missense_Mutation SNP C C T rs141576642 by1000genomes TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:46292272C>T ENST00000359930.4 - 16 3003 c.2152G>A c.(2152-2154)Gac>Aac p.D718N SULF2_ENST00000484875.1_Missense_Mutation_p.D718N|SULF2_ENST00000467815.1_Missense_Mutation_p.D718N|SULF2_ENST00000361612.4_Missense_Mutation_p.D718N NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 718 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CTGCACGTGTCGTTGTTCTGC 0.612000 OREG0026005 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 83 57 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160468850 160468850 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:160468850C>T ENST00000356956.1 + 17 2404 c.2256C>T c.(2254-2256)ttC>ttT p.F752F NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 752 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CCTACAACTTCCGGTGGTACA 0.552000 42 40 0 0 1 0 0 ECH1 1891 broad.mit.edu 37 19 39306534 39306534 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:39306534G>A ENST00000221418.4 - 9 1077 c.845C>T c.(844-846)tCc>tTc p.S282F NM_001398.2 NP_001389.2 enoyl CoA hydratase 1, peroxisomal cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6 all_cancers(60;9.36e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) ATGGTCGCGGGAATACAGCAG 0.612000 25 24 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203736 56203736 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:56203736C>T ENST00000361673.3 - 5 3896 c.3683G>A c.(3682-3684)gGa>gAa p.G1228E RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1228 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTCCCAATTTCCAGGTCTATA 0.473000 40 50 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154176065 154176065 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:154176065C>T ENST00000360256.4 - 13 2221 c.2021G>A c.(2020-2022)gGa>gAa p.G674E NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 674 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GAAGGTATATCCAGAGAAGAA 0.413000 31 2 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54646866 54646866 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:54646866C>T ENST00000406403.1 + 2 1640 c.37C>T c.(37-39)Cgc>Tgc p.R13C CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R13C O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 13 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGAGATTGATCGCTGCCTCAA 0.537000 64 89 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173493150 173493150 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:173493150G>A ENST00000367714.3 - 21 3020 c.2598C>T c.(2596-2598)atC>atT p.I866I SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 866 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CCAGCCAAATGATGTTGTGAA 0.348000 18 52 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61935342 61935342 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:61935342G>A ENST00000577390.1 - 3 1242 c.288C>T c.(286-288)atC>atT p.I96I CDH8_ENST00000584337.1_Silent_p.I96I|CDH8_ENST00000577730.1_Silent_p.I96I|CDH8_ENST00000299345.6_Silent_p.I96I NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 96 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GGATATACTTGATTTTTTTGC 0.378000 8 19 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108334225 108334225 + Missense_Mutation SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:108334225T>C ENST00000520734.1 - 3 392 c.107A>G c.(106-108)cAa>cGa p.Q36R ANGPT1_ENST00000520052.1_Missense_Mutation_p.Q36R Q15389 ANGP1_HUMAN angiopoietin 1 236 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TCTGTTTAATTGCTTTTCCAG 0.433000 13 26 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158436237 158436237 + Missense_Mutation SNP G G A rs142494640 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:158436237G>A ENST00000289451.2 + 1 966 c.886G>A c.(886-888)Gaa>Aaa p.E296K NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) GAGAAATAAGGAATTCAAATC 0.378000 53 26 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584073 179584073 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:179584073G>A ENST00000589042.1 - 83 24268 c.24044C>T c.(24043-24045)tCa>tTa p.S8015L TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7698L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6771L|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7698 Ig-like 62. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S6771L(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAGCCAACTGAAATCGGGGC 0.502000 41 58 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15791071 15791071 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:15791071G>A ENST00000550308.1 + 4 741 c.361G>A c.(361-363)Gat>Aat p.D121N CYP4F12_ENST00000324632.9_Missense_Mutation_p.D121N NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TGCACCCAAGGATAATCTCTT 0.567000 66 84 0 0 1 0 0 GPR27 2850 broad.mit.edu 37 3 71804085 71804085 + Silent SNP C C T rs149967896 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:71804085C>T ENST00000304411.2 + 1 885 c.885C>T c.(883-885)ctC>ctT p.L295L NM_018971.1 NP_061844.1 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 295 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(1)|lung(2)|ovary(1)|prostate(1) 5 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) TCTTCCTGCTCCTCTGGGGGC 0.697000 8 28 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178943785 178943785 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:178943785C>T ENST00000263967.3 + 17 2609 c.2452C>T c.(2452-2454)Cgt>Tgt p.R818C NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 818 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCAAATTATTCGTATTATGGA 0.353000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 7 20 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189608589 189608589 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:189608589G>A ENST00000264731.3 + 13 1753 c.1664G>A c.(1663-1665)aGg>aAg p.R555K TP63_ENST00000392463.2_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000382063.4_Missense_Mutation_p.R470K|TP63_ENST00000440651.2_Missense_Mutation_p.R551K|TP63_ENST00000456148.1_Missense_Mutation_p.R457K|TP63_ENST00000354600.5_Missense_Mutation_p.R461K|TP63_ENST00000392460.3_Intron|TP63_ENST00000449992.1_Missense_Mutation_p.R376K NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 555 SAM. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TTCTTAGCGAGGTTGGGCTGT 0.463000 HNSCC(45;0.13) 11 12 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600549 29600549 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:29600549C>T ENST00000431530.3 + 1 1802 c.1744C>T c.(1744-1746)Cca>Tca p.P582S NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 572 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CTTGGTAGTTCCACCCCCTAC 0.532000 25 36 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111090631 111090631 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:111090631T>A ENST00000262839.2 - 6 2329 c.1411A>T c.(1411-1413)Atg>Ttg p.M471L NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 471 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGGTGCCACATTTCCCATTCC 0.438000 19 3 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198948485 198948485 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:198948485C>T ENST00000428675.1 + 2 642 c.244C>T c.(244-246)Cct>Tct p.P82S NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 82 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TTTACAGGATCCTTCAAACCA 0.343000 8 14 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65241127 65241127 + Missense_Mutation SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:65241127C>A ENST00000389722.3 - 23 5014 c.4961G>T c.(4960-4962)gGc>gTc p.G1654V SPTB_ENST00000542895.1_Missense_Mutation_p.G1654V|SPTB_ENST00000389720.3_Missense_Mutation_p.G1654V|SPTB_ENST00000389721.5_Missense_Mutation_p.G1654V|SPTB_ENST00000556626.1_Missense_Mutation_p.G1654V NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1654 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTCAGGGTGGCCTGCAGACAG 0.642000 3 3 0.00024832 0.000250051 1 1 0 CHL1 10752 broad.mit.edu 37 3 404910 404910 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:404910G>A ENST00000256509.2 + 14 2071 c.1429G>A c.(1429-1431)Gaa>Aaa p.E477K CHL1_ENST00000397491.2_Missense_Mutation_p.E461K NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 461 Ig-like C2-type 5. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GCAGAAGGTGGAAGAAGTGAA 0.448000 9 18 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 32897411 32897411 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:32897411G>A ENST00000317907.4 + 8 1243 c.1012G>A c.(1012-1014)Gat>Aat p.D338N NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 338 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 CCAGATGCCGGATCTGTGTGC 0.378000 26 38 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280205 32280205 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:32280205G>A ENST00000360482.2 - 2 859 c.730C>T c.(730-732)Ccc>Tcc p.P244S SPOCD1_ENST00000373648.2_Missense_Mutation_p.P244S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P244S|SPOCD1_ENST00000257100.3_Intron NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 244 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GCAACTTGGGGAGGGTCTCCC 0.617000 41 59 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098827 11098827 + RNA SNP C C T rs79274499 by1000genomes TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr21:11098827C>T ENST00000470054.1 - 0 98 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccatccagagcgagacgagcc 0.637000 7 23 0 0 1 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420246 55420246 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:55420246C>T ENST00000242994.3 + 2 401 c.23C>T c.(22-24)tCc>tTc p.S8F NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 8 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.S8F(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TTTGTAAAATCCAAGGAGATG 0.393000 7 14 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83932432 83932432 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:83932432G>A ENST00000345382.2 - 4 1656 c.1571C>T c.(1570-1572)tCa>tTa p.S524L RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S517L NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 524 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CATTTCGTTTGAAATGAGCTG 0.483000 22 33 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559872 140559872 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:140559872G>A ENST00000239444.2 + 1 2502 c.2257G>A c.(2257-2259)Gag>Aag p.E753K NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 753 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATCAGTACGAGGTGTGCCT 0.577000 26 45 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51255022 51255022 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:51255022G>A ENST00000404971.1 - 2 1729 c.390C>T c.(388-390)atC>atT p.I130I NRXN1_ENST00000406859.3_Silent_p.I130I|NRXN1_ENST00000406316.2_Silent_p.I130I|NRXN1_ENST00000401669.2_Silent_p.I130I|NRXN1_ENST00000405581.1_Silent_p.I130I|NRXN1_ENST00000402717.3_Silent_p.I130I|NRXN1_ENST00000405472.3_Silent_p.I130I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 130 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCACCTGGTCGATGAAGAGCG 0.682000 15 15 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186459884 186459884 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:186459884G>A ENST00000265023.4 + 10 1911 c.1699G>A c.(1699-1701)Gat>Aat p.D567N RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 567 blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) TCAGGACTCTGATCTCATTGC 0.473000 29 37 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 120386063 120386063 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:120386063G>A ENST00000331113.4 + 5 2662 c.1697G>A c.(1696-1698)aGa>aAa p.R566K NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 566 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TGTGTGGAGAGAACACCTCTG 0.443000 22 26 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59835523 59835523 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:59835523C>T ENST00000395125.1 + 25 3206 c.3183C>T c.(3181-3183)acC>acT p.T1061T DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Silent_p.T1061T|DAAM1_ENST00000360909.3_Silent_p.T1051T NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 1061 actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AACGTATTACCAACCAGATGA 0.383000 11 24 0 0 1 0 0 MCM5 4174 broad.mit.edu 37 22 35808549 35808549 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:35808549C>T ENST00000216122.4 + 8 1120 c.966C>T c.(964-966)ttC>ttT p.F322F MCM5_ENST00000382011.5_Silent_p.F279F|MCM5_ENST00000465557.1_3'UTR NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 322 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 AGGAGGAGTTCCGTCGCCTGG 0.612000 39 45 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518198 113518198 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:113518198C>T ENST00000284601.3 - 4 3017 c.2949G>A c.(2947-2949)gtG>gtA p.V983V NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 983 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 TACCTGATGTCACTATTCCTG 0.368000 42 52 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6634780 6634780 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:6634780G>A ENST00000333172.6 + 3 781 c.588G>A c.(586-588)gtG>gtA p.V196V TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.V196V NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 196 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) AGTACCAGGTGGAGACCATGG 0.587000 13 17 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27152555 27152555 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:27152555G>A ENST00000343028.4 - 3 526 c.301C>T c.(301-303)Ctt>Ttt p.L101F TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 101 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) TCTGGTCTAAGGATGAAAACC 0.468000 22 22 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91519980 91519980 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:91519980G>A ENST00000361188.5 - 9 2340 c.1129C>T c.(1129-1131)Cga>Tga p.R377* PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Nonsense_Mutation_p.R377*|PRC1_ENST00000361919.3_Nonsense_Mutation_p.R377*|PRC1_ENST00000442656.2_Nonsense_Mutation_p.R336* O43663 PRC1_HUMAN protein regulator of cytokinesis 1 377 Spectrin-fold. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding p.R377*(1) endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) TTTGTAAATCGATTTGGATCT 0.373000 34 32 0 0 1 0 0 AQP5 362 broad.mit.edu 37 12 50357928 50357928 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:50357928G>A ENST00000293599.6 + 3 730 c.582G>A c.(580-582)gtG>gtA p.V194V NM_001651.2 NP_001642.1 P55064 AQP5_HUMAN aquaporin 5 194 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 GCCCTGCGGTGGTCATGAATC 0.607000 20 28 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961356 1961356 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:1961356C>T ENST00000217305.2 - 4 603 c.378G>A c.(376-378)ctG>ctA p.L126L PDYN_ENST00000539905.1_Silent_p.L126L|PDYN_ENST00000540134.1_Silent_p.L126L|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 126 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCTTCTCCTCCAGGCTCTTGC 0.547000 83 49 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480638 57480638 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:57480638C>T ENST00000371236.2 - 12 1625 c.1362G>A c.(1360-1362)caG>caA p.Q454Q DAB1_ENST00000414851.2_Silent_p.Q436Q|DAB1_ENST00000371234.4_Silent_p.Q454Q|DAB1_ENST00000439789.2_Silent_p.Q368Q|DAB1_ENST00000420954.2_Silent_p.Q452Q|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Silent_p.Q487Q O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 487 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CGTCTGTATCCTGTGCCACCC 0.567000 19 17 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183667837 183667837 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:183667837G>A ENST00000334444.6 - 21 3261 c.3021C>T c.(3019-3021)atC>atT p.I1007I ABCC5_ENST00000265586.6_Silent_p.I1007I NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1007 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGACTCCTGCGATCATTCCCA 0.512000 7 13 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10062315 10062315 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:10062315C>T ENST00000380861.4 + 7 1042 c.651C>T c.(649-651)atC>atT p.I217I WWC3_ENST00000454666.1_Silent_p.I217I NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 217 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CTGATATCATCGGGGAGGTAT 0.567000 38 0 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13793676 13793676 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:13793676G>A ENST00000265104.4 - 49 8276 c.8172C>T c.(8170-8172)ttC>ttT p.F2724F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2724 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.F2724L(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TAAATATAGAGAACTGCCTCT 0.502000 Kartagener syndrome 24 41 0 0 1 0 0 PGM1 5236 broad.mit.edu 37 1 64095186 64095186 + Missense_Mutation SNP A A T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:64095186A>T ENST00000371083.4 + 2 759 c.391A>T c.(391-393)Att>Ttt p.I131F PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371084.3_Missense_Mutation_p.I113F NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 113 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity p.I113V(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGGTGGGATCATTCTGACAGC 0.463000 52 67 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275301 71275301 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:71275301C>T ENST00000399575.2 + 3 430 c.256C>T c.(256-258)Caa>Taa p.Q86* PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 86 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) CATTCTATCTCAACTCTTTCC 0.423000 74 84 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201507521 201507521 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:201507521G>A ENST00000374700.2 + 25 3085 c.2844G>A c.(2842-2844)gaG>gaA p.E948E AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 948 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TATCCCCTGAGAAGGTAATAC 0.493000 15 20 0 0 1 0 0 MYSM1 114803 broad.mit.edu 37 1 59148172 59148172 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:59148172G>A ENST00000472487.1 - 8 583 c.544C>T c.(544-546)Cat>Tat p.H182Y MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 182 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) TGAAGATTATGGCCGGTCTTC 0.333000 7 13 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68956773 68956773 + Silent SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:68956773T>G ENST00000288368.4 + 8 1168 c.891T>G c.(889-891)cgT>cgG p.R297R PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 297 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ACCTTTTTCGTGGCCGGATCA 0.393000 13 26 0 0 1 0 0 PRKAR1B 5575 broad.mit.edu 37 7 635807 635807 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:635807C>T ENST00000406797.1 - 7 858 c.684G>A c.(682-684)cgG>cgA p.R228R PRKAR1B_ENST00000537384.1_Silent_p.R228R|PRKAR1B_ENST00000403562.1_Silent_p.R228R|PRKAR1B_ENST00000544935.1_Silent_p.R228R|PRKAR1B_ENST00000360274.4_Silent_p.R228R NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 228 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) GGTAGCTGTCCCGGTCGATCC 0.642000 36 65 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287924 46287924 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:46287924G>A ENST00000378966.3 + 2 1072 c.656G>A c.(655-657)cGc>cAc p.R219H SPERT_ENST00000310521.1_Missense_Mutation_p.R255H Q8NA61 SPERT_HUMAN spermatid associated 255 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GAGGAGAATCGCGCGCTGCAG 0.692000 6 8 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50765611 50765611 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:50765611C>T ENST00000404971.1 - 11 3382 c.2043G>A c.(2041-2043)gtG>gtA p.V681V NRXN1_ENST00000406859.3_Silent_p.V641V|NRXN1_ENST00000406316.2_Silent_p.V641V|NRXN1_ENST00000401669.2_Silent_p.V641V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.V633V|NRXN1_ENST00000405472.3_Silent_p.V633V NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 641 EGF-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.V681V(1)|p.V682V(1)|p.V641V(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGATGCAGCCCACGTAGCCAT 0.522000 58 88 0 0 1 0 0 MOGAT1 116255 broad.mit.edu 37 2 223554123 223554123 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:223554123C>T ENST00000446656.3 + 3 413 c.413C>T c.(412-414)tCa>tTa p.S138L NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 138 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) GGCTTTACTTCATATCTTCAC 0.428000 26 36 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46995453 46995453 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:46995453C>T ENST00000371253.2 - 3 329 c.114G>A c.(112-114)aaG>aaA p.K38K GPR110_ENST00000371243.2_Silent_p.K38K|GPR110_ENST00000449332.2_Intron NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 38 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 GATGTTTTTTCTTATTCACAA 0.393000 14 20 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64669617 64669617 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:64669617C>T ENST00000357395.3 + 101 18436 c.7292C>T c.(7291-7293)tCc>tTc p.S2431F ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6008F|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2431F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S2680F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6046F|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6046F Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6046 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCTGAGCTTTCCAAGCCTGTT 0.478000 15 15 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22987870 22987870 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:22987870G>A ENST00000509305.1 + 3 1093 c.747G>A c.(745-747)atG>atA p.M249I C1QB_ENST00000314933.6_Missense_Mutation_p.M251I P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 251 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTCCAGATATGGAGGCCTGAC 0.597000 24 33 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60587958 60587958 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:60587958C>T ENST00000406854.1 + 8 2541 c.1987C>T c.(1987-1989)Cgt>Tgt p.R663C PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.R663C|PCNXL4_ENST00000406949.1_Missense_Mutation_p.R429C|PCNXL4_ENST00000317623.4_Missense_Mutation_p.R429C pecanex-like 4 (Drosophila) TTTTCAGGATCGTTTAATGTG 0.313000 31 36 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101350952 101350952 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:101350952G>A ENST00000534062.1 - 1 232 c.174C>T c.(172-174)ccC>ccT p.P58P NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 58 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 GGCCACTGGGGGGCTCCTTCT 0.632000 12 19 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653718 159653718 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:159653718G>A ENST00000297267.9 + 11 2374 c.2174G>A c.(2173-2175)gGa>gAa p.G725E FNDC1_ENST00000340366.6_Missense_Mutation_p.G662E NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 725 Ser-rich. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCCCATGGGGGATCATCTCGG 0.652000 16 13 0 0 1 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67858669 67858669 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:67858669C>T ENST00000388833.3 + 6 880 c.503C>T c.(502-504)tCa>tTa p.S168L TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.S153L|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.S222L NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 168 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) GAGAAGATTTCATTGCAGAGC 0.478000 3 15 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156811950 156811950 + Silent SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:156811950T>C ENST00000368195.3 - 19 3747 c.3351A>G c.(3349-3351)gcA>gcG p.A1117A NTRK1_ENST00000392302.2_Silent_p.A29A NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1117 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGTTGCGGGCTGCTAGATCTC 0.567000 11 30 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25182349 25182349 + Missense_Mutation SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:25182349A>G ENST00000409280.1 - 8 1077 c.769T>C c.(769-771)Tgg>Cgg p.W257R C7orf31_ENST00000283905.3_Missense_Mutation_p.W257R Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 257 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 ATAGGGTCCCATGAATTTAAA 0.398000 53 58 0 0 1 0 0 CYP24A1 1591 broad.mit.edu 37 20 52779371 52779371 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:52779371T>G ENST00000216862.3 - 7 1268 c.875A>C c.(874-876)aAg>aCg p.K292T CYP24A1_ENST00000395954.3_Missense_Mutation_p.K150T|CYP24A1_ENST00000395955.3_Missense_Mutation_p.K292T NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 292 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen p.L290_Y293>Y(1) breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CTGAGAATACTTCTCTAACCG 0.423000 15 52 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55857580 55857580 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:55857580G>A ENST00000422046.2 - 4 699 c.418C>T c.(418-420)Cac>Tac p.H140Y CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Missense_Mutation_p.H140Y|CES1_ENST00000360526.3_Missense_Mutation_p.H141Y P23141 EST1_HUMAN carboxylesterase 1 140 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CCCCCTCCGTGGATCCACACC 0.562000 6 37 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86808051 86808051 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:86808051G>A ENST00000441037.2 + 10 1606 c.1511G>A c.(1510-1512)cGa>cAa p.R504Q AGBL1_ENST00000421325.2_Missense_Mutation_p.R504Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R235Q NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 504 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATGTTGGAACGAAAATGTGGA 0.443000 17 22 0 0 1 0 0 RP11-508N22.8 0 broad.mit.edu 37 10 38484548 38484548 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:38484548G>A ENST00000423162.1 + 0 381 TGACCTTGGTGATATATTAAC 0.363000 7 21 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66902208 66902208 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:66902208C>T ENST00000269080.2 - 17 2392 c.2255G>A c.(2254-2256)gGa>gAa p.G752E ABCA8_ENST00000586539.1_Missense_Mutation_p.G792E|ABCA8_ENST00000430352.2_Missense_Mutation_p.G792E NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 752 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TGTAGATTTTCCTTCTAGCTT 0.313000 21 31 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66802139 66802139 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:66802139G>A ENST00000393946.2 + 6 1220 c.58G>A c.(58-60)Gag>Aag p.E20K SYT12_ENST00000525457.1_Missense_Mutation_p.E20K|SYT12_ENST00000526281.1_Intron|SYT12_ENST00000527043.1_Missense_Mutation_p.E20K Q8IV01 SYT12_HUMAN synaptotagmin XII 20 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 CCCTGGCTGGGAGGTGGGTGT 0.647000 45 5 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60448956 60448956 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:60448956G>A ENST00000360469.5 + 7 1138 c.1050_splice c.e7+1 p.E350_splice CDH4_ENST00000543233.1_Splice_Site_p.E276_splice NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 350 Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TGGACCGAGAGGTGAGGCGGG 0.667000 57 38 0 0 1 0 0 SLC22A3 6581 broad.mit.edu 37 6 160864668 160864668 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:160864668C>T ENST00000392145.1 + 9 1434 c.1407C>T c.(1405-1407)ttC>ttT p.F469F SLC22A3_ENST00000275300.2_Silent_p.F468F O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 468 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) ACAGAAATTTCGGAGTTTCGC 0.383000 9 7 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42088185 42088185 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:42088185G>A ENST00000395925.3 - 5 668 c.584C>T c.(583-585)cCc>cTc p.P195L GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 195 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ATTAATGTAGGGATGTGGAGG 0.552000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 50 74 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106890098 106890098 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:106890098G>A ENST00000379987.2 + 12 1865 c.1649G>A c.(1648-1650)gGa>gAa p.G550E NPNT_ENST00000506666.1_Missense_Mutation_p.G551E|NPNT_ENST00000453617.2_Missense_Mutation_p.G567E|NPNT_ENST00000427316.2_Missense_Mutation_p.G580E|NPNT_ENST00000514622.1_Missense_Mutation_p.G521E|NPNT_ENST00000305572.8_Intron NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 550 MAM. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) GGGGAGATTGGATTAGATGAT 0.463000 7 9 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57738844 57738844 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:57738844G>A ENST00000360716.3 + 7 977 c.756G>A c.(754-756)agG>agA p.R252R CCDC135_ENST00000394337.4_Silent_p.R252R|CCDC135_ENST00000336825.8_Silent_p.R187R Q8IY82 CC135_HUMAN coiled-coil domain containing 135 252 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 AACCCCCCAGGGACCTGTGCA 0.567000 18 14 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155450436 155450436 + Missense_Mutation SNP A A T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:155450436A>T ENST00000368346.3 - 3 2864 c.2225T>A c.(2224-2226)tTt>tAt p.F742Y ASH1L_ENST00000392403.3_Missense_Mutation_p.F742Y Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 742 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AACGTTTTTAAAAAGCTCTGA 0.383000 43 35 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63411348 63411348 + Nonsense_Mutation SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:63411348C>A ENST00000330258.3 - 2 2091 c.1819G>T c.(1819-1821)Gaa>Taa p.E607* AMER1_ENST00000403336.1_Nonsense_Mutation_p.E607*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.E607* NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GCATAGGCTTCCCTGCCATAA 0.637000 9 2 0.000673444 0.000676791 1 1 0 BMX 660 broad.mit.edu 37 X 15540668 15540668 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:15540668G>A ENST00000357607.2 + 7 898 c.710G>A c.(709-711)aGg>aAg p.R237K BMX_ENST00000342014.6_Missense_Mutation_p.R237K|BMX_ENST00000348343.6_Missense_Mutation_p.R237K P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 237 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TATATTCCAAGGGAAGACTTC 0.483000 27 3 0 0 1 0 0 ACY1 95 broad.mit.edu 37 3 52020621 52020621 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:52020621G>A ENST00000458031.2 + 10 1028 c.796_splice c.e10-1 p.G266_splice ACY1_ENST00000494103.1_Splice_Site_p.G104_splice|ACY1_ENST00000404366.2_Splice_Site_p.G176_splice|ABHD14A-ACY1_ENST00000463937.1_Splice_Site_p.G277_splice|ACY1_ENST00000476854.1_Splice_Site_p.G176_splice|ACY1_ENST00000476351.1_Splice_Site_p.G141_splice Q03154 ACY1_HUMAN aminoacylase 1 176 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) CCCTCCTCAGGCATAGCCAAT 0.582000 67 65 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72423453 72423453 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:72423453C>T ENST00000340595.3 + 19 2852 c.2656C>T c.(2656-2658)Ctg>Ttg p.L886L SLC4A4_ENST00000425175.1_Silent_p.L930L|SLC4A4_ENST00000351898.6_Silent_p.L846L|SLC4A4_ENST00000264485.5_Silent_p.L930L NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 930 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GAAGCTGCTTCTGATGCCTCT 0.493000 9 19 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182413311 182413311 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:182413311G>A ENST00000410087.3 - 8 1194 c.1094C>T c.(1093-1095)tCa>tTa p.S365L CERKL_ENST00000374970.2_Missense_Mutation_p.S296L|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Missense_Mutation_p.S252L|CERKL_ENST00000339098.5_Missense_Mutation_p.S391L|CERKL_ENST00000409440.3_Missense_Mutation_p.S347L NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 391 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) TGGTAAAAATGATATTTCACA 0.303000 6 11 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44670039 44670039 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:44670039G>A ENST00000454036.1 + 8 1071 c.995G>A c.(994-996)gGa>gAa p.G332E SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G309E NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 332 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCTTGGGAAGGAAATGAGACG 0.552000 15 51 0 0 1 0 0 ALG2 85365 broad.mit.edu 37 9 101980593 101980593 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:101980593C>T ENST00000476832.1 - 2 935 c.874G>A c.(874-876)Gac>Aac p.D292N ALG2_ENST00000319033.6_Missense_Mutation_p.D199N NM_033087.3 NP_149078.1 Q9H553 ALG2_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 292 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) TGGCCAAGGTCGGACTGTTGG 0.478000 51 1 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272366 158272366 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:158272366C>T ENST00000264192.3 - 8 1024 c.903G>A c.(901-903)agG>agA p.R301R CYTIP_ENST00000540637.1_Silent_p.R195R NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 301 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TGCTCCGGTTCCTCCTTGAAG 0.547000 22 19 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97915750 97915750 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:97915750G>A ENST00000370192.3 - 14 1870 c.1770C>T c.(1768-1770)atC>atT p.I590I NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 590 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTCCCCGGATGATTCTGGGGG 0.418000 16 27 0 0 1 0 0 LACRT 90070 broad.mit.edu 37 12 55028623 55028623 + Translation_Start_Site SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:55028623C>T ENST00000257867.4 - 1 56 c.3G>A c.(1-3)atG>atA p.M1I LACRT_ENST00000547511.1_Start_Codon_SNP_p.M1I NM_033277.1 NP_150593.1 Q9GZZ8 LACRT_HUMAN lacritin 1 calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion extracellular region|stored secretory granule collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1) 10 TGGTAAATTTCATTCTTTGGG 0.512000 20 24 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59789900 59789900 + Missense_Mutation SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:59789900T>C ENST00000395125.1 + 5 754 c.731T>C c.(730-732)aTg>aCg p.M244T DAAM1_ENST00000351081.1_Missense_Mutation_p.M244T|DAAM1_ENST00000360909.3_Missense_Mutation_p.M244T NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 244 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CTGCAGGCCATGCTGCACTAC 0.552000 10 5 0 0 1 0 0 KAZALD1 81621 broad.mit.edu 37 10 102824051 102824051 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:102824051G>A ENST00000370200.5 + 3 871 c.545G>A c.(544-546)tGg>tAg p.W182* NM_030929.4 NP_112191.2 Q96I82 KAZD1_HUMAN Kazal-type serine peptidase inhibitor domain 1 182 Ig-like C2-type. cell differentiation|multicellular organismal development|ossification|regulation of cell growth insulin-like growth factor binding endometrium(1)|ovary(1)|prostate(2) 4 Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) TATGACACTTGGAATGTGACA 0.557000 19 14 0 0 1 0 0 HEMK1 51409 broad.mit.edu 37 3 50617356 50617356 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:50617356C>T ENST00000232854.4 + 9 1404 c.852C>T c.(850-852)ctC>ctT p.L284L HEMK1_ENST00000455834.1_Silent_p.L284L|HEMK1_ENST00000434410.1_Silent_p.L284L NM_016173.3 NP_057257.1 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 284 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) CACCCCGGCTCCTGAAAGACT 0.597000 19 22 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83378555 83378555 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:83378555G>A ENST00000566620.1 + 6 1015 c.725G>A c.(724-726)cGa>cAa p.R242Q CDH13_ENST00000428848.3_Missense_Mutation_p.R203Q|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.R289Q NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 242 Cadherin 1. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) AATGACAACCGACCGATCTTT 0.502000 35 35 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361184 105361184 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:105361184C>T ENST00000297581.2 + 2 453 c.404C>T c.(403-405)tCc>tTc p.S135F DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S135F|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 135 osteoclast differentiation cell surface|integral to membrane|plasma membrane AAGAGCTTTTCCATACATTTT 0.393000 17 31 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178418926 178418926 + Silent SNP G G T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:178418926G>T ENST00000231188.5 - 2 841 c.663C>A c.(661-663)tcC>tcA p.S221S GRM6_ENST00000517717.1_Silent_p.S221S NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 221 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AGTTGCCCTCGGAGGCCAGCG 0.612000 3 38 1 1 1 1 0 ZNF786 136051 broad.mit.edu 37 7 148769369 148769369 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:148769369G>A ENST00000316286.9 - 3 509 c.237C>T c.(235-237)atC>atT p.I79I ZNF786_ENST00000491431.1_Silent_p.I165I|ZNF786_ENST00000451334.3_Silent_p.I128I Q8N393 ZN786_HUMAN zinc finger protein 786 165 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGGGACCTGGGATTCCTTCTT 0.612000 17 15 0 0 1 0 0 RRNAD1 51093 broad.mit.edu 37 1 156703946 156703946 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:156703946G>A ENST00000368216.4 + 6 1412 c.782G>A c.(781-783)gGg>gAg p.G261E RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron NM_015997.3 NP_057081.3 Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 261 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 CACGCCTGTGGGGATCTGAGT 0.627000 21 41 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342338 29342338 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:29342338G>A ENST00000396806.3 - 1 730 c.727C>T c.(727-729)Cat>Tat p.H243Y OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 ACCATAAAATGGGAGGCACAA 0.463000 12 23 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634389 180634389 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:180634389G>A ENST00000410066.1 - 3 697 c.94C>T c.(94-96)Ctt>Ttt p.L32F NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 32 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) AAGGAGAAAAGAATTTTCTTT 0.473000 15 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179599502 179599502 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:179599502C>T ENST00000589042.1 - 51 15373 c.15149G>A c.(15148-15150)gGg>gAg p.G5050E TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G4733E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G3806E|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4733 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAGTAACTCCCACTGTCTTC 0.363000 38 47 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72301382 72301382 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:72301382G>A ENST00000579490.1 + 8 1318 c.1183G>A c.(1183-1185)Gag>Aag p.E395K DNAI2_ENST00000446837.2_Missense_Mutation_p.E338K|DNAI2_ENST00000311014.6_Missense_Mutation_p.E338K|DNAI2_ENST00000307504.5_Missense_Mutation_p.E195K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E338K Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 338 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity p.E338K(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGTGGGGACCGAGCAGGGCAT 0.582000 Kartagener syndrome 20 23 0 0 1 0 0 ZAR1 326340 broad.mit.edu 37 4 48495020 48495020 + Silent SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:48495020C>A ENST00000327939.4 + 3 1162 c.1122C>A c.(1120-1122)atC>atA p.I374I NM_175619.1 NP_783318.1 Q86SH2 ZAR1_HUMAN zygote arrest 1 374 multicellular organismal development cytoplasm|membrane bile acid:sodium symporter activity endometrium(1)|large_intestine(4) 5 TGGAGGATATCACCTGTCAAG 0.408000 25 21 2.41591e-17 2.44984e-17 1 1 0 NOS1 4842 broad.mit.edu 37 12 117728120 117728120 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:117728120G>A ENST00000317775.6 - 4 1649 c.964C>T c.(964-966)Cac>Tac p.H322Y NOS1_ENST00000344089.3_Silent_p.S340S|NOS1_ENST00000338101.4_Missense_Mutation_p.H322Y NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 322 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTCTTAAGGTGGAGGGTGTCA 0.512000 14 7 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145659103 145659103 + Missense_Mutation SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:145659103C>A ENST00000409379.3 - 22 3456 c.3427G>T c.(3427-3429)Gac>Tac p.D1143Y NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 1143 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 CCACAGCCGTCCCCCAGGGGG 0.657000 8 20 3.09899e-07 3.12994e-07 1 1 0 OR4M1 441670 broad.mit.edu 37 14 20248980 20248980 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:20248980C>T ENST00000315957.4 + 1 580 c.499C>T c.(499-501)Cct>Tct p.P167S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTCGACTTCCTTTCTGTGG 0.488000 54 192 0 0 1 0 0 SOX17 64321 broad.mit.edu 37 8 55371725 55371725 + Missense_Mutation SNP C C G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:55371725C>G ENST00000297316.4 + 2 619 c.415C>G c.(415-417)Ccg>Gcg p.P139A NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 139 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CAAGTACCGGCCGCGGCGGCG 0.731000 9 6 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40589088 40589088 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:40589088G>A ENST00000260402.3 - 14 1594 c.1345C>T c.(1345-1347)Ccc>Tcc p.P449S PLCB2_ENST00000456256.2_Missense_Mutation_p.P449S|PLCB2_ENST00000557821.1_Missense_Mutation_p.P449S NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 449 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCAGGGCTGGGCAGGGGGACA 0.547000 22 1 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119739041 119739041 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:119739041G>A ENST00000541757.1 + 10 969 c.589G>A c.(589-591)Gcc>Acc p.A197T MARCO_ENST00000327097.4_Missense_Mutation_p.A275T Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 275 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GCCTCCTGGAGCCCAGGGGAG 0.517000 7 6 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168810844 168810844 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:168810844C>T ENST00000464456.1 - 12 3675 c.2475G>A c.(2473-2475)gcG>gcA p.A825A MECOM_ENST00000472280.1_Silent_p.A835A|MECOM_ENST00000460814.1_Silent_p.A825A|MECOM_ENST00000468789.1_Silent_p.A834A|MECOM_ENST00000433243.2_Silent_p.A835A|MECOM_ENST00000264674.3_Silent_p.A899A|MECOM_ENST00000392736.3_Silent_p.A834A|MECOM_ENST00000494292.1_Silent_p.A1013A NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CATCCAGAATCGCACCTGTAC 0.433000 19 35 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 50 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27368264 27368264 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:27368264G>A ENST00000244576.4 + 3 660 c.115G>A c.(115-117)Gag>Aag p.E39K NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 ATCCTCTTTTGAGAACACAGT 0.418000 21 28 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24566227 24566227 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:24566227C>T ENST00000216780.4 + 2 424 c.156C>T c.(154-156)gcC>gcT p.A52A NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Silent_p.A64A|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Silent_p.A52A NM_004563.2 NP_004554.2 Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 52 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) AGCACAGTGCCCGCCTGTGCC 0.582000 17 41 0 0 1 0 0 SOX17 64321 broad.mit.edu 37 8 55371723 55371723 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:55371723G>A ENST00000297316.4 + 2 617 c.413G>A c.(412-414)cGg>cAg p.R138Q NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 138 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) TACAAGTACCGGCCGCGGCGG 0.726000 8 6 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088518 94088518 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:94088518G>A ENST00000553484.1 + 31 5159 c.5005G>A c.(5005-5007)Gaa>Aaa p.E1669K UNC79_ENST00000555664.1_Missense_Mutation_p.E1647K|UNC79_ENST00000256339.4_Missense_Mutation_p.E1470K|UNC79_ENST00000393151.2_Missense_Mutation_p.E1647K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1647 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CGAGAGTGACGAAGAAGAGGA 0.552000 23 30 0 0 1 0 0 SDC4 6385 broad.mit.edu 37 20 43964457 43964457 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:43964457G>A ENST00000372733.3 - 2 203 c.164C>T c.(163-165)tCt>tTt p.S55F SDC4_ENST00000537976.1_Intron NM_002999.3 NP_002990.2 P31431 SDC4_HUMAN syndecan 4 55 extracellular region|integral to plasma membrane cytoskeletal protein binding|thrombospondin receptor activity SDC4/ROS1(7) NS(1)|breast(1)|endometrium(1)|large_intestine(2) 5 Myeloproliferative disorder(115;0.0122) AAAGTCATCAGATTCCTGCCC 0.602000 T ROS1 NSCLC 33 20 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119469231 119469231 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:119469231C>T ENST00000369429.3 - 3 432 c.423G>A c.(421-423)agG>agA p.R141R TBX15_ENST00000207157.3_Silent_p.R35R Q96SF7 TBX15_HUMAN T-box 15 141 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) CAGGAAACATCCTCCTATGAA 0.403000 17 8 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635399 42635399 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:42635399G>A ENST00000358131.5 + 3 613 c.405G>A c.(403-405)caG>caA p.Q135Q TOX2_ENST00000423191.1_Silent_p.Q84Q|TOX2_ENST00000372999.1_Silent_p.Q84Q|TOX2_ENST00000341197.3_Silent_p.Q126Q NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGCTAGCACAGGACAGCCACC 0.627000 16 33 0 0 1 0 0 CAMK2A 815 broad.mit.edu 37 5 149602590 149602590 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:149602590G>A ENST00000348628.6 - 17 2060 c.1395C>T c.(1393-1395)gtC>gtT p.V465V CAMK2A_ENST00000398376.3_Silent_p.V476V|CAMK2A_ENST00000351010.6_5'UTR NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 465 interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTGGAAGTGGACGATCTGCC 0.637000 38 47 0 0 1 0 0 CSAG1 158511 broad.mit.edu 37 X 151908847 151908847 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:151908847G>A ENST00000370291.2 + 4 366 c.86G>A c.(85-87)aGa>aAa p.R29K CSAG1_ENST00000452779.2_Missense_Mutation_p.R29K|CSAG1_ENST00000370287.3_Missense_Mutation_p.R29K Q6PB30 CSAG1_HUMAN chondrosarcoma associated gene 1 29 central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AGACTGTACAGAGACACTGGT 0.532000 77 4 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108833269 108833269 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:108833269G>A ENST00000232603.5 - 2 163 c.81C>T c.(79-81)ttC>ttT p.F27F MORC1_ENST00000483760.1_Silent_p.F27F NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 27 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTCCAAAAAGGAAACTGTGAG 0.358000 5 9 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296141 233296141 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:233296141G>A ENST00000258229.8 - 19 3639 c.3405C>T c.(3403-3405)gcC>gcT p.A1135A PCNXL2_ENST00000488780.2_Silent_p.A268A|PCNXL2_ENST00000520463.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1135 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CAAACCCCACGGCTCCAGCCA 0.493000 22 7 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84904618 84904618 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:84904618G>A ENST00000403245.3 - 10 1125 c.1011C>T c.(1009-1011)atC>atT p.I337I KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.I261I NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 337 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CCATAGTAGAGATGTTTTTTG 0.289000 8 11 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174219 150174219 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:150174219G>A ENST00000307271.3 + 5 1923 c.1349G>A c.(1348-1350)gGg>gAg p.G450E NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 450 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGCGGGACTGGGAAGAGTGCG 0.552000 42 62 0 0 1 0 0 S100P 6286 broad.mit.edu 37 4 6695639 6695639 + Translation_Start_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:6695639G>A ENST00000296370.3 + 0 844 S100P_ENST00000513778.1_3'UTR NM_005980.2 NP_005971.1 P25815 S100P_HUMAN S100 calcium binding protein P endothelial cell migration cytoplasm|nucleus calcium ion binding|calcium-dependent protein binding|magnesium ion binding prostate(1) 1 Myeloproliferative disorder(84;0.0255) Colorectal(103;0.011) Cromoglicate(DB01003) CCAGGAGGAAGGTGGGTCTGA 0.567000 16 24 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16276734 16276734 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:16276734C>T ENST00000205557.7 - 16 2026 c.1997G>A c.(1996-1998)gGg>gAg p.G666E ABCC6_ENST00000574094.1_Intron NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 666 ABC transporter 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CTTCCCTGCCCCCACTGGACC 0.627000 21 32 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197032162 197032162 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:197032162C>T ENST00000367412.1 - 2 133 c.90G>A c.(88-90)gtG>gtA p.V30V NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 30 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TTCCATTTTCCACATGAGGAA 0.313000 60 101 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129764135 129764135 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:129764135C>T ENST00000226319.6 + 3 360 c.80C>T c.(79-81)tCc>tTc p.S27F PHF17_ENST00000512960.1_Missense_Mutation_p.S27F|PHF17_ENST00000452328.2_Missense_Mutation_p.S27F|PHF17_ENST00000511647.1_Missense_Mutation_p.S27F|PHF17_ENST00000413543.2_Missense_Mutation_p.S27F NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 27 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TCCCAGAATTCCCGATCCCAG 0.448000 10 21 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228547470 228547470 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:228547470G>A ENST00000284548.11 + 81 18951 c.18877G>A c.(18877-18879)Gaa>Aaa p.E6293K OBSCN_ENST00000366709.4_Missense_Mutation_p.E3412K|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7116 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCGGAGGCAGAACCAGGCCA 0.706000 3 9 0 0 1 0 0 FSHB 2488 broad.mit.edu 37 11 30255117 30255117 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:30255117G>A ENST00000417547.1 + 3 199 c.159_splice c.e3-1 p.D54_splice FSHB_ENST00000533718.1_Splice_Site_p.D54_splice|FSHB_ENST00000254122.3_Splice_Site_p.D54_splice NM_001018080.1 NP_001018090.1 P01225 FSHB_HUMAN follicle stimulating hormone, beta polypeptide 54 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) AACTCCTCAGGATCTGGTGTA 0.428000 15 6 0 0 1 0 0 ZNF503 84858 broad.mit.edu 37 10 77158877 77158877 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:77158877G>A ENST00000372524.4 - 2 2057 c.1571C>T c.(1570-1572)cCg>cTg p.P524L RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.P524L NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) CTTGTCGCACGGCCCGTTGGC 0.652000 15 25 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54758782 54758782 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:54758782C>T ENST00000450632.1 - 6 1121 c.1044G>A c.(1042-1044)aaG>aaA p.K348K LILRB5_ENST00000345866.6_Silent_p.K257K|LILRB5_ENST00000316219.5_Silent_p.K357K|LILRB5_ENST00000449561.2_Silent_p.K357K O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 357 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGCCCCCTCCTTGGTCAAAA 0.572000 17 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179414373 179414373 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:179414373G>A ENST00000589042.1 - 338 92300 c.92076C>T c.(92074-92076)ttC>ttT p.F30692F TTN_ENST00000460472.2_Silent_p.F21627F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.F29051F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.F21752F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.F28124F|TTN_ENST00000342175.6_Silent_p.F21819F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29051 Ig-like 138. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGAAACACGGAATTGGTATT 0.413000 27 29 0 0 1 0 0 UFC1 51506 broad.mit.edu 37 1 161127075 161127075 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:161127075C>T ENST00000368003.5 + 3 469 c.223C>T c.(223-225)Ctc>Ttc p.L75F UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA NM_016406.3 NP_057490.2 Q9Y3C8 UFC1_HUMAN ubiquitin-fold modifier conjugating enzyme 1 75 protein ufmylation protein binding|UFM1 conjugating enzyme activity endometrium(1)|lung(9) 10 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TATCCATGACCTCCTGAAATA 0.413000 35 92 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100887879 100887879 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:100887879G>A ENST00000358544.2 + 62 12165 c.12054G>A c.(12052-12054)agG>agA p.R4018R VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.R3993R NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 4018 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAGCCCTGAGGAAAGGGTTTC 0.443000 20 24 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47603211 47603211 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:47603211C>T ENST00000371891.3 + 1 85 c.54C>T c.(52-54)atC>atT p.I18I CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.I18I|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.I18I NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 18 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTCCGGGATCCTCCAAGTGA 0.597000 33 45 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121649793 121649793 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:121649793G>A ENST00000489711.1 + 18 2048 c.1660G>A c.(1660-1662)Gga>Aga p.G554R SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.G523R NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 554 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TGTGCAAAGAGGAGAGTAAGT 0.393000 11 10 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102486385 102486385 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:102486385C>T ENST00000360184.4 + 42 8663 c.8499C>T c.(8497-8499)ttC>ttT p.F2833F NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2833 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TGCGTCTCTTCCAAGATAGGT 0.557000 6 19 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135771901 135771901 + Silent SNP G G C rs118203747 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:135771901G>C ENST00000298552.3 - 23 3437 c.3216C>G c.(3214-3216)gcC>gcG p.A1072A TSC1_ENST00000545250.1_Silent_p.A1021A|TSC1_ENST00000440111.2_Silent_p.A1072A NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 1072 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TGGGGATGCTGGCAGACGCTT 0.562000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 33 5 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50944217 50944217 + Missense_Mutation SNP G G T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:50944217G>T ENST00000374103.4 - 22 2846 c.2761C>A c.(2761-2763)Cca>Aca p.P921T OGDHL_ENST00000419399.1_Missense_Mutation_p.P864T|OGDHL_ENST00000432695.1_Missense_Mutation_p.P712T|OGDHL_ENST00000490844.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 921 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 AAGGGGAATGGAGAGATCTGG 0.597000 10 8 4.68919e-08 4.74077e-08 1 1 0 MBL2 4153 broad.mit.edu 37 10 54530438 54530438 + Missense_Mutation SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:54530438T>C ENST00000373968.3 - 2 360 c.296A>G c.(295-297)aAa>aGa p.K99R MBL2_ENST00000493043.1_5'UTR NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 99 Collagen-like. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 ACCCGGACTTTTTCCAGGGTC 0.567000 38 59 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385583 58385583 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:58385583T>A ENST00000435989.2 - 3 1409 c.1175A>T c.(1174-1176)tAt>tTt p.Y392F ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 392 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 GAAGCTAGCATATTTGCTAAA 0.368000 3 5 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302002 128302002 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:128302002G>A ENST00000262462.4 + 1 1182 c.172G>A c.(172-174)Gat>Aat p.D58N SLC27A6_ENST00000506176.1_Missense_Mutation_p.D58N|SLC27A6_ENST00000395266.1_Missense_Mutation_p.D58N Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 58 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GACTGTGCTGGATAAATTCTT 0.448000 27 22 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373091 86373091 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:86373091C>T ENST00000604798.1 - 8 2617 c.1413G>A c.(1411-1413)agG>agA p.R471R MGAT4C_ENST00000393205.2_Silent_p.R500R|MGAT4C_ENST00000552808.2_Silent_p.R471R|MGAT4C_ENST00000549405.2_Silent_p.R471R|MGAT4C_ENST00000548651.1_Silent_p.R471R|MGAT4C_ENST00000332156.1_Silent_p.R471R Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 471 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGCTAATACTCCTAATAATTA 0.343000 6 18 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32740386 32740386 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:32740386G>A ENST00000333070.4 + 3 254 c.154G>A c.(154-156)Gaa>Aaa p.E52K LCK_ENST00000336890.5_Missense_Mutation_p.E52K|LCK_ENST00000373564.3_Missense_Mutation_p.E52K NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 52 Interactions with CD4 and CD8 (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GGTTACCTACGAAGGCTCCAA 0.612000 T TRB@ T-ALL 14 26 0 0 1 0 0 FFAR1 2864 broad.mit.edu 37 19 35842987 35842987 + Missense_Mutation SNP C C T rs143187042 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:35842987C>T ENST00000246553.2 + 1 543 c.533C>T c.(532-534)tCt>tTt p.S178F NM_005303.2 NP_005294.1 O14842 FFAR1_HUMAN free fatty acid receptor 1 178 energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) GACCCGGCCTCTGCCGGCCCG 0.677000 19 17 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767678 105767678 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:105767678T>G ENST00000374798.3 + 5 835 c.765T>G c.(763-765)gaT>gaG p.D255E CYLC2_ENST00000487798.1_Missense_Mutation_p.D255E NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 255 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) ACAAAGGTGATGAATCGAAGG 0.383000 17 0 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76054489 76054489 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:76054489G>A ENST00000336517.4 + 2 401 c.55G>A c.(55-57)Gac>Aac p.D19N ZP3_ENST00000394857.3_Missense_Mutation_p.D70N NM_007155.5 NP_009086.4 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) 70 binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 CAGGGCTGCTGACCTCACCTT 0.577000 22 29 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49967944 49967944 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:49967944C>T ENST00000293350.4 + 12 1656 c.1493C>T c.(1492-1494)tCc>tTc p.S498F CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.S333F|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.S447F|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.S335F NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 498 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TCCTGCCTCTCCAAGAACCTG 0.632000 94 126 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125072945 125072945 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:125072945G>A ENST00000522917.1 + 24 3348 c.3142G>A c.(3142-3144)Gaa>Aaa p.E1048K FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1048K|FER1L6-AS2_ENST00000601180.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1048 C2 4. integral to membrane p.E1048K(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGACGCTTTCGAAGTGGTGCG 0.517000 19 26 0 0 1 0 0 ACAA1 30 broad.mit.edu 37 3 38167344 38167344 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:38167344G>A ENST00000333167.8 - 10 1198 c.1026C>T c.(1024-1026)ttC>ttT p.F342F ACAA1_ENST00000301810.7_Silent_p.F249F|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000450296.1_Silent_p.F301F NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 342 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding p.F342F(1) endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) CATTGATCTCGAAGATGTCCA 0.602000 42 63 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576419 158576419 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:158576419C>T ENST00000361284.1 + 1 191 c.191C>T c.(190-192)tCc>tTc p.S64F NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CTCTTCCTTTCCTTCCTATCC 0.517000 75 145 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113220765 113220765 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:113220765C>T ENST00000401783.2 - 20 3898 c.3562G>A c.(3562-3564)Gaa>Aaa p.E1188K SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.E1188K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E1165K NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1188 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTGCTGATTTCATGCCTCTTT 0.398000 10 0 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186647530 186647530 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:186647530G>A ENST00000367468.5 - 4 456 c.320C>T c.(319-321)tCa>tTa p.S107L PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 107 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) AATCAAATGTGATCTGGCTGA 0.353000 14 21 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169194505 169194505 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:169194505C>T ENST00000393743.3 - 18 2790 c.2499G>A c.(2497-2499)acG>acA p.T833T NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 833 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GCAGATTTTTCGTAAAACGAT 0.383000 10 20 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50666588 50666588 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:50666588G>A ENST00000371824.1 + 7 1096 c.839G>A c.(838-840)gGa>gAa p.G280E ELAVL4_ENST00000371819.1_Missense_Mutation_p.G285E|ELAVL4_ENST00000371823.4_Missense_Mutation_p.G294E|ELAVL4_ENST00000448907.2_Missense_Mutation_p.G283E|ELAVL4_ENST00000371827.1_Missense_Mutation_p.G280E|ELAVL4_ENST00000357083.4_Missense_Mutation_p.G297E|ELAVL4_ENST00000371821.1_Missense_Mutation_p.G299E P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 294 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 GGTCACACAGGAACTGGGTGG 0.537000 33 32 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38065923 38065923 + Translation_Start_Site SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:38065923A>G ENST00000463876.1 - 1 355 c.2T>C c.(1-3)aTg>aCg p.M1T PLCD1_ENST00000334661.4_Intron NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 0 intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CAGGCACTGCATGGCCCTCCA 0.687000 6 8 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35710651 35710651 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:35710651G>A ENST00000314888.9 - 33 4586 c.4233C>T c.(4231-4233)tcC>tcT p.S1411S TLN1_ENST00000540444.1_Silent_p.S1411S NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1411 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGGCATTTTGGGAGATGCCAG 0.552000 27 2 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855306 79855306 + Missense_Mutation SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:79855306T>C ENST00000338682.3 - 5 1205 c.533A>G c.(532-534)cAt>cGt p.H178R NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 178 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) AGCTGGGGAATGACACCCATC 0.443000 38 54 0 0 1 0 0 FAM177B 400823 broad.mit.edu 37 1 222920008 222920008 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:222920008G>A ENST00000445590.2 + 3 387 c.121G>A c.(121-123)Gag>Aag p.E41K FAM177B_ENST00000360827.2_Missense_Mutation_p.E41K NM_207468.2 NP_997351.2 A6PVY3 F177B_HUMAN family with sequence similarity 177, member B 41 Poly-Glu. breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 8 TAGCACAgaggaggaggagga 0.443000 7 29 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50666631 50666631 + Silent SNP C C T rs138724011 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:50666631C>T ENST00000371824.1 + 7 1139 c.882C>T c.(880-882)tcC>tcT p.S294S ELAVL4_ENST00000371819.1_Silent_p.S299S|ELAVL4_ENST00000371823.4_Silent_p.S308S|ELAVL4_ENST00000448907.2_Silent_p.S297S|ELAVL4_ENST00000371827.1_Silent_p.S294S|ELAVL4_ENST00000357083.4_Silent_p.S311S|ELAVL4_ENST00000371821.1_Silent_p.S313S P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 308 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding p.S311S(1)|p.S308S(1) NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 CCCCCGATTCCGATGAGAGTG 0.502000 31 29 0 0 1 0 0 ZNF707 286075 broad.mit.edu 37 8 144776018 144776018 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:144776018C>T ENST00000532205.1 + 8 1333 c.434C>T c.(433-435)cCc>cTc p.P145L ZNF707_ENST00000358656.4_Missense_Mutation_p.P145L|ZNF707_ENST00000418203.2_Missense_Mutation_p.P145L|ZNF707_ENST00000454097.1_Missense_Mutation_p.P145L|ZNF707_ENST00000532158.1_Missense_Mutation_p.P145L Q96C28 ZN707_HUMAN zinc finger protein 707 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GACGCCAAGCCCACGGCTTTC 0.637000 13 18 0 0 1 0 0 RGS21 431704 broad.mit.edu 37 1 192335167 192335167 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:192335167C>T ENST00000417209.2 + 5 546 c.372C>T c.(370-372)ttC>ttT p.F124F NM_001039152.3 NP_001034241.1 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 124 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 AGGATTCTTTCCCTCGATTTC 0.373000 30 31 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98865158 98865158 + Splice_Site SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:98865158C>T ENST00000295268.3 - 8 1023 c.933_splice c.e8-1 p.E312_splice NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 TGCCAAAATTCCTGTTGAAAG 0.323000 18 42 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38647489 38647489 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:38647489C>T ENST00000413689.1 - 10 1484 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K SCN5A_ENST00000449557.2_Missense_Mutation_p.E431K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E431K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E431K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E431K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E431K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E431K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E431K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E431K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E431K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 431 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.E431K(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AAGCGCTTTTCCTTCTCCTCG 0.572000 27 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179486229 179486229 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:179486229G>A ENST00000589042.1 - 245 45546 c.45322C>T c.(45322-45324)Cga>Tga p.R15108* TTN_ENST00000460472.2_Nonsense_Mutation_p.R6043*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R13467*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R6168*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R12540*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R6235*|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13467 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATCGGTTCGAGAGCTTGGG 0.393000 19 20 0 0 1 0 0 PYROXD1 79912 broad.mit.edu 37 12 21615726 21615726 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:21615726C>T ENST00000538582.1 + 10 1586 c.833C>T c.(832-834)tCc>tTc p.S278F PYROXD1_ENST00000240651.9_Missense_Mutation_p.S349F Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 1 349 oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1) 18 ATGCACACATCCCTTCCTGAT 0.418000 14 18 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7811305 7811305 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:7811305G>A ENST00000303635.7 + 20 4943 c.4736G>A c.(4735-4737)aGc>aAc p.S1579N CAMTA1_ENST00000476864.1_Missense_Mutation_p.S143N|CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1565N NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1579 IQ 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CTTATCCAGAGCAAATTCCGA 0.458000 T WWTR1 epitheliod hemangioendothelioma 92 142 0 0 1 0 0 SEPT4 5414 broad.mit.edu 37 17 56604277 56604277 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:56604277G>A ENST00000426861.1 - 2 152 c.66C>T c.(64-66)ttC>ttT p.F22F SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000412945.3_Silent_p.F33F|SEPT4_ENST00000317256.6_Silent_p.F22F|SEPT4_ENST00000317268.3_Silent_p.F41F|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000393086.1_Silent_p.F22F|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_Silent_p.F56F|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000583114.1_5'UTR|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA NM_080415.2 NP_536340.1 O43236 SEPT4_HUMAN septin 4 41 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) CATTTCCTGAGAAATCCTTCA 0.592000 38 52 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43559041 43559041 + Missense_Mutation SNP G G T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:43559041G>T ENST00000220420.5 - 1 14 c.7C>A c.(7-9)Caa>Aaa p.Q3K TGM5_ENST00000349114.4_Missense_Mutation_p.Q3K NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 3 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) TCCCTACCTTGGGCCATGGTA 0.562000 18 3 4.54149e-19 4.61451e-19 1 1 0 PROX2 283571 broad.mit.edu 37 14 75329259 75329259 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:75329259C>T ENST00000556489.2 - 1 1278 c.1279G>A c.(1279-1281)Gag>Aag p.E427K PROX2_ENST00000445876.1_Missense_Mutation_p.E427K|PROX2_ENST00000556084.2_Intron NM_001243007.1 NP_001229936.1 Q3B8N5 PROX2_HUMAN prospero homeobox 2 427 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GGCAGTGCCTCCATGACAGCA 0.512000 29 30 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67023476 67023476 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:67023476G>A ENST00000340001.4 - 14 2117 c.1906C>T c.(1906-1908)Cct>Tct p.P636S ABCA9_ENST00000453985.2_Missense_Mutation_p.P636S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P636S NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 636 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CTTACTTGAGGATCTCCTAAA 0.299000 7 7 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134851628 134851628 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:134851628C>T ENST00000398015.3 + 5 1404 c.1034C>T c.(1033-1035)cCa>cTa p.P345L EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 345 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGGCACCCTCCAAGGGAGACA 0.572000 13 9 0 0 1 0 0 BZW2 28969 broad.mit.edu 37 7 16734623 16734623 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:16734623C>T ENST00000433922.2 + 8 994 c.816C>T c.(814-816)atC>atT p.I272I BZW2_ENST00000407633.1_Silent_p.I78I|BZW2_ENST00000258761.3_Silent_p.I272I|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000405202.1_Silent_p.I196I NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 272 W2. cell differentiation|nervous system development|RNA metabolic process protein binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) AATGCCCGATCAAGGAGGTGG 0.527000 34 24 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904031 5904031 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:5904031G>A ENST00000378961.4 + 4 1445 c.1241G>A c.(1240-1242)gGa>gAa p.G414E NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 414 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CTTGAGCCGGGAAAGGGACGC 0.532000 56 49 0 0 1 0 0 BDNF 627 broad.mit.edu 37 11 27679898 27679898 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:27679898C>T ENST00000525528.1 - 1 1307 c.214G>A c.(214-216)Gat>Aat p.D72N BDNF_ENST00000395978.3_Missense_Mutation_p.D72N|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.D87N|BDNF_ENST00000356660.4_Missense_Mutation_p.D72N|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.D80N|BDNF_ENST00000418212.1_Missense_Mutation_p.D72N|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.D72N|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.D72N|BDNF_ENST00000438929.1_Missense_Mutation_p.D154N|BDNF_ENST00000395981.3_Missense_Mutation_p.D72N|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000439476.2_Missense_Mutation_p.D72N|BDNF_ENST00000420794.1_Missense_Mutation_p.D72N|BDNF_ENST00000533246.1_Missense_Mutation_p.D72N|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533131.1_Missense_Mutation_p.D72N|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.D72N|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.D72N|BDNF_ENST00000525950.1_Missense_Mutation_p.D72N NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 72 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 TGGTCCTCATCCAACAGCTCT 0.517000 83 10 0 0 1 0 0 MDH1B 130752 broad.mit.edu 37 2 207615746 207615746 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:207615746G>A ENST00000374412.3 - 6 1239 c.964C>T c.(964-966)Ctg>Ttg p.L322L MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.L322L|MDH1B_ENST00000449792.1_Silent_p.L224L NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 322 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) GTTTTTCTCAGATCAACGTAA 0.323000 18 26 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603275 111603275 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:111603275C>T ENST00000431670.2 + 2 762 c.351C>T c.(349-351)tcC>tcT p.S117S PHLDB2_ENST00000412622.1_Silent_p.S117S|PHLDB2_ENST00000478922.1_Silent_p.S117S|PHLDB2_ENST00000481953.1_Silent_p.S117S|PHLDB2_ENST00000393923.3_Silent_p.S144S|PHLDB2_ENST00000393925.3_Silent_p.S117S|PHLDB2_ENST00000477695.1_Silent_p.S117S NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 117 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CTACATCCTCCCTCAGTGGAT 0.453000 94 146 0 0 1 0 0 HLA-DQA1 3117 broad.mit.edu 37 6 32609762 32609762 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:32609762C>T ENST00000343139.5 + 3 447 c.345C>T c.(343-345)gtC>gtT p.V115V HLA-DQA1_ENST00000395363.1_Silent_p.V115V|HLA-DQA1_ENST00000374949.2_Silent_p.V115V NM_002122.3 NP_002113.2 P01909 DQA1_HUMAN major histocompatibility complex, class II, DQ alpha 1 114 Alpha-1.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 TTCCTGAGGTCACAGTGTTTT 0.512000 25 17 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887657 3887657 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:3887657C>T ENST00000319331.3 + 2 2093 c.1332C>T c.(1330-1332)ttC>ttT p.F444F SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 444 Ig-like C2-type. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CGACGGTTTTCCTAGACTGTC 0.448000 18 19 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27805005 27805005 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:27805005C>T ENST00000408964.2 + 1 5617 c.5566C>T c.(5566-5568)Ccc>Tcc p.P1856S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1856 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCACCTCAGTCCCTTGGAAAG 0.547000 23 47 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43034711 43034711 + Silent SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:43034711A>G ENST00000316099.3 + 2 218 c.129A>G c.(127-129)tcA>tcG p.S43S HNF4A_ENST00000457232.1_Silent_p.S21S|HNF4A_ENST00000415691.1_Silent_p.S43S|HNF4A_ENST00000443598.2_Silent_p.S43S NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 43 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGTCCCCATCAGAAGGCACCA 0.622000 83 198 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1516462 1516462 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:1516462G>A ENST00000389470.4 - 37 5627 c.5628C>T c.(5626-5628)atC>atT p.I1876I INTS1_ENST00000404767.3_Silent_p.I1677I Q8N201 INT1_HUMAN integrator complex subunit 1 1677 Poly-Leu. snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GCAGGACTCGGATGCACTGGT 0.657000 13 14 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160263246 160263246 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:160263246G>A ENST00000241704.7 - 26 2913 c.2684C>T c.(2683-2685)tCc>tTc p.S895F COPA_ENST00000368069.3_Missense_Mutation_p.S904F NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 895 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGCCCCAGGGGATATATCCTA 0.473000 5 11 0 0 1 0 0 ZNF350 59348 broad.mit.edu 37 19 52468450 52468450 + Missense_Mutation SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:52468450T>C ENST00000243644.4 - 5 1483 c.1256A>G c.(1255-1257)aAg>aGg p.K419R HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA NM_021632.3 NP_067645.3 Q9GZX5 ZN350_HUMAN zinc finger protein 350 419 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) TCTCTTATGCTTAACCAGACA 0.473000 28 23 0 0 1 0 0 FHIT 2272 broad.mit.edu 37 3 59908129 59908129 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:59908129G>A ENST00000468189.1 - 8 661 c.291C>T c.(289-291)gtC>gtT p.V97V FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000476844.1_Silent_p.V97V|FHIT_ENST00000492590.1_Silent_p.V97V|FHIT_ENST00000341848.4_Silent_p.V97V P49789 FHIT_HUMAN fragile histidine triad 97 Binding to substrate; phosphate linker.|HIT. nucleotide metabolic process bis(5'-adenosyl)-triphosphatase activity|protein binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1) 12 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) GAAGAACATGGACGTGAACGT 0.423000 T HMGA2 pleomorphic salivary gland adenoma Renal Cell Cancer associated with constitutional translocation of chromosome 3 22 19 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236620 140236620 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:140236620G>A ENST00000307360.5 + 1 987 c.987G>A c.(985-987)atG>atA p.M329I PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.M329I|PCDHA9_ENST00000532602.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCACCTATGGTTGGTCACT 0.408000 24 30 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69948661 69948661 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:69948661G>A ENST00000358913.5 + 13 3191 c.e13-1 MYPN_ENST00000354393.2_Splice_Site|MYPN_ENST00000540630.1_Splice_Site NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CATTTTGACAGGAGTACAAAA 0.373000 10 10 0 0 1 0 0 CBFA2T3 863 broad.mit.edu 37 16 88945680 88945680 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:88945680C>T ENST00000268679.4 - 11 2056 c.1660G>A c.(1660-1662)Gag>Aag p.E554K CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E478K|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E516K|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E468K|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E468K NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 554 cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E554K(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GGCCCTACCTCGCTGGAGTCC 0.697000 T RUNX1 AML 30 33 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141201963 141201963 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:141201963G>A ENST00000389484.3 - 65 11201 c.10230C>T c.(10228-10230)atC>atT p.I3410I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3410 LDL-receptor class A 23. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGTTTACTGGGATACATTTCT 0.393000 TSP Lung(27;0.18) 24 24 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148166 34148166 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:34148166G>A ENST00000346193.3 - 1 2281 c.2230C>T c.(2230-2232)Cta>Tta p.L744L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 744 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CCCTTGCTTAGAATGAAATCC 0.423000 20 3 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909394 123909394 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:123909394G>A ENST00000330487.5 - 1 323 c.315C>T c.(313-315)ttC>ttT p.F105F NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGCTCCCCAGGAAGTGGAAAA 0.547000 91 35 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93822129 93822129 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:93822129G>A ENST00000315765.9 + 12 2297 c.2289G>A c.(2287-2289)ggG>ggA p.G763G NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 763 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ACGCAAGAGGGGAAAGGTACC 0.532000 31 7 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629554 9629554 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:9629554C>T ENST00000382492.2 - 1 909 c.591G>A c.(589-591)ttG>ttA p.L197L CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 197 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 GAGAGAAAATCAAGAGCAAAA 0.488000 16 25 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103143482 103143482 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:103143482G>A ENST00000424685.2 - 52 8629 c.8470C>T c.(8470-8472)Cct>Tct p.P2824S RELN_ENST00000343529.5_Missense_Mutation_p.P2824S|RELN_ENST00000428762.1_Missense_Mutation_p.P2824S|CTB-107G13.1_ENST00000422488.1_RNA P78509 RELN_HUMAN reelin 2824 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGCTTTCAGGAAGTGGGTAG 0.448000 14 28 0 0 1 0 0 UBXN7 26043 broad.mit.edu 37 3 196083597 196083597 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:196083597G>A ENST00000296328.4 - 11 1503 c.1429C>T c.(1429-1431)Ctt>Ttt p.L477F UBXN7_ENST00000535858.1_Missense_Mutation_p.L329F|UBXN7_ENST00000428095.1_Missense_Mutation_p.L315F NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 477 UBX. protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TGAGGACAAAGGCCTGCCTCT 0.413000 22 27 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113275983 113275983 + Silent SNP G G A rs61754530 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:113275983G>A ENST00000297405.5 - 61 9991 c.9747C>T c.(9745-9747)ttC>ttT p.F3249F CSMD3_ENST00000352409.3_Silent_p.F3179F|CSMD3_ENST00000343508.3_Silent_p.F3209F|CSMD3_ENST00000455883.2_Silent_p.F3080F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3249 Sushi 25. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGCCCCAGTCGAAATTTGTTC 0.453000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 19 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58578650 58578650 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:58578650G>A ENST00000506786.1 + 5 1226 c.672G>A c.(670-672)ggG>ggA p.G224G ZNF135_ENST00000359978.6_Silent_p.G278G|ZNF135_ENST00000511556.1_Silent_p.G278G|ZNF135_ENST00000401053.4_Silent_p.G290G|ZNF135_ENST00000439855.2_Silent_p.G266G|ZNF135_ENST00000313434.5_Silent_p.G266G B4DHH9 B4DHH9_HUMAN zinc finger protein 135 278 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) TCCATACTGGGGAGAAACCCT 0.502000 42 46 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41727078 41727078 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:41727078G>A ENST00000301178.4 + 3 526 c.336G>A c.(334-336)acG>acA p.T112T AXL_ENST00000359092.3_Silent_p.T112T|AXL_ENST00000594880.1_3'UTR NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 112 Ig-like C2-type 1. T -> M (in dbSNP:rs35202236). integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 TTTCCGACACGGGACAGTACC 0.592000 17 17 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24185029 24185029 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:24185029G>A ENST00000396671.2 - 8 1049 c.701C>T c.(700-702)gCc>gTc p.A234V THRB_ENST00000356447.4_Missense_Mutation_p.A234V|THRB_ENST00000416420.1_Missense_Mutation_p.A234V|THRB_ENST00000280696.5_Missense_Mutation_p.A249V NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 234 A -> T (in GTHR). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) GCTGCCTTGGGCGTTGGTCGC 0.512000 35 41 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912607 77912607 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:77912607G>A ENST00000321110.1 - 2 1606 c.1311C>T c.(1309-1311)gtC>gtT p.V437V NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 437 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TGTGCCAACGGACCCATTCAG 0.547000 20 1 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131671193 131671193 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:131671193C>T ENST00000259324.5 + 3 2273 c.1750C>T c.(1750-1752)Ctc>Ttc p.L584F LRRC8A_ENST00000372600.4_Missense_Mutation_p.L584F|LRRC8A_ENST00000372599.3_Missense_Mutation_p.L584F NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 584 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 GCTCATCGTCCTCAACAGCCT 0.572000 45 2 0 0 1 0 0 SERTM1 400120 broad.mit.edu 37 13 37269321 37269321 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:37269321G>A ENST00000315190.3 + 2 552 c.106G>A c.(106-108)Ggc>Agc p.G36S NM_203451.2 NP_982276.2 A2A2V5 CM036_HUMAN serine-rich and transmembrane domain containing 1 36 integral to membrane CCCATCCTCAGGCCACCTGTC 0.468000 49 61 0 0 1 0 0 SPATA31D3 389762 broad.mit.edu 37 9 84564747 84564747 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:84564747G>A ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA TTAAGGGGAAGATATTGTGTC 0.498000 9 2 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999404 72999404 + Missense_Mutation SNP C C G rs111787453 byFrequency TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:72999404C>G ENST00000322038.5 + 2 2491 c.1907C>G c.(1906-1908)cCg>cGg p.P636R TSHZ1_ENST00000580243.1_Missense_Mutation_p.P681R NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 681 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AAAGATTTCCCGAAAACGGAG 0.557000 19 25 0 0 1 0 0 MALL 7851 broad.mit.edu 37 2 110849256 110849256 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:110849256G>A ENST00000272462.2 - 2 970 c.197C>T c.(196-198)tCg>tTg p.S66L MALL_ENST00000427178.1_Intron NM_005434.4 NP_005425.1 Q13021 MALL_HUMAN mal, T-cell differentiation protein-like 66 MARVEL. cholesterol homeostasis clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane protein binding kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 9 Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18) GATGAGAAACGAGGTGAGCGA 0.458000 13 37 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149430369 149430369 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:149430369C>T ENST00000255992.10 + 18 2722 c.2323C>T c.(2323-2325)Cct>Tct p.P775S KRBA1_ENST00000485033.2_Missense_Mutation_p.P715S|KRBA1_ENST00000319551.8_Missense_Mutation_p.P715S|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 776 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGAGCTGCCCCCTCCGGAAGC 0.682000 84 82 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404411 20404411 + Missense_Mutation SNP G G A rs149331048 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:20404411G>A ENST00000285600.4 + 1 645 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196K(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ATATGAAATGGAAATTATGAC 0.448000 25 61 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117647515 117647515 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:117647515G>A ENST00000368508.3 - 33 5627 c.5429C>T c.(5428-5430)tCc>tTc p.S1810F ROS1_ENST00000368507.3_Missense_Mutation_p.S1804F|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1810 Fibronectin type-III 9. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.S1810F(1) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ACTACTGCAGGATCCATTAAA 0.333000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 16 9 0 0 1 0 0 UGCG 7357 broad.mit.edu 37 9 114695241 114695241 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:114695241C>T ENST00000374279.3 + 9 1599 c.1149C>T c.(1147-1149)cgC>cgT p.R383R NM_003358.1 NP_003349.1 Q16739 CEGT_HUMAN UDP-glucose ceramide glucosyltransferase 383 epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) ACAGATTACGCTGTGGGGGTA 0.378000 32 3 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162577553 162577553 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:162577553C>T ENST00000306100.5 - 7 1257 c.821G>A c.(820-822)gGa>gAa p.G274E FSTL5_ENST00000379164.4_Missense_Mutation_p.G273E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G273E|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Missense_Mutation_p.G273E NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 274 Ig-like 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCTCAGGGTTCCTTGAATGGC 0.383000 13 20 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266586 107266586 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:107266586C>T ENST00000334726.2 + 1 132 c.43C>T c.(43-45)Ctg>Ttg p.L15L NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATTTTTCTTCCTGGGATTTTT 0.388000 35 10 0 0 1 0 0 MYCN 4613 broad.mit.edu 37 2 16082311 16082311 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:16082311C>T ENST00000281043.3 + 2 422 c.125C>T c.(124-126)tCg>tTg p.S42L MYCNOS_ENST00000448719.1_RNA NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 42 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) GGCCCCGACTCGACCCCCCCG 0.652000 A neuroblastoma 12 28 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74536375 74536375 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:74536375C>T ENST00000321288.5 + 4 680 c.680C>T c.(679-681)cCt>cTt p.P227L CCDC33_ENST00000398814.3_Missense_Mutation_p.P24L Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 227 C2. protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGCACGGAACCTGAGATCGGT 0.567000 39 46 0 0 1 0 0 CELF6 60677 broad.mit.edu 37 15 72582467 72582467 + Splice_Site SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:72582467C>T ENST00000287202.5 - 4 778 c.e4+1 RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Splice_Site|CELF6_ENST00000543764.2_Splice_Site|CELF6_ENST00000567083.1_Splice_Site|CELF6_ENST00000539635.1_Splice_Site|CELF6_ENST00000569311.1_Splice_Site NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 GCTCAGGTCACCTTTACTGGT 0.627000 17 15 0 0 1 0 0 NLGN2 57555 broad.mit.edu 37 17 7320372 7320372 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:7320372C>T ENST00000302926.2 + 7 1835 c.1762C>T c.(1762-1764)Cgc>Tgc p.R588C NLGN2_ENST00000575301.1_Missense_Mutation_p.R588C NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 588 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) CCTGAAGCCACGCGTGCGTGA 0.582000 6 8 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28913665 28913665 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:28913665C>T ENST00000257192.4 + 7 1010 c.798C>T c.(796-798)atC>atT p.I266I NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 266 Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGATAATATCCCTTACATGG 0.393000 10 26 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5173466 5173466 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:5173466G>A ENST00000380367.1 - 2 551 c.134C>T c.(133-135)tCc>tTc p.S45F OR52A1_ENST00000328942.1_Missense_Mutation_p.S45F Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 45 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGAAGCAAGGAATTTCCAAT 0.468000 26 2 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926203 1926203 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:1926203C>T ENST00000399161.2 - 10 2085 c.1338G>A c.(1336-1338)aaG>aaA p.K446K MYT1L_ENST00000428368.2_Silent_p.K446K NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 446 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CCCTCATGGCCTTTGCTCTTT 0.547000 43 47 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2985562 2985562 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:2985562C>T ENST00000396946.4 - 4 652 c.249G>A c.(247-249)aaG>aaA p.K83K AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 83 CARD. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCCTTTGCCCCTTGGTATGTA 0.488000 Mis DLBCL 90 124 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890233 139890233 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:139890233G>A ENST00000303045.6 - 3 864 c.418C>T c.(418-420)Cgc>Tgc p.R140C COL22A1_ENST00000435777.1_Missense_Mutation_p.R140C NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 140 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGTAGGCGCGGTCCCTGGGG 0.726000 HNSCC(7;0.00092) 3 3 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141619460 141619460 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:141619460C>T ENST00000548136.1 + 1 844 c.785C>T c.(784-786)cCc>cTc p.P262L MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TACGTGAAACCCAAGCAAACG 0.498000 42 36 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43412939 43412939 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr21:43412939G>A ENST00000310826.5 - 3 1449 c.1266C>T c.(1264-1266)tcC>tcT p.S422S ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Silent_p.S422S|ZBTB21_ENST00000398511.3_Silent_p.S422S|ZBTB21_ENST00000398505.3_Silent_p.S422S NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 CAGTCACAGGGGAAGCTCCCT 0.572000 14 18 0 0 1 0 0 GFRA3 2676 broad.mit.edu 37 5 137593428 137593428 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:137593428C>T ENST00000274721.3 - 4 931 c.685G>A c.(685-687)Gag>Aag p.E229K GFRA3_ENST00000378362.3_Missense_Mutation_p.E198K NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 229 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CGCCGGCGCTCCCCGCAGCCC 0.711000 33 23 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33371051 33371051 + Missense_Mutation SNP C C T rs141493785 by1000genomes TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr21:33371051C>T ENST00000270112.2 + 11 2059 c.1699C>T c.(1699-1701)Cgc>Tgc p.R567C NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 567 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GTCTGTGGATCGCGACGACCA 0.602000 8 18 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764013 77764013 + Missense_Mutation SNP C C G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:77764013C>G ENST00000521891.2 + 10 5304 c.4856C>G c.(4855-4857)aCa>aGa p.T1619R ZFHX4_ENST00000050961.6_Missense_Mutation_p.T1574R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T1574R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T1593R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1574 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTCCACCAGACAAAGGCTAGG 0.517000 HNSCC(33;0.089) 18 20 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43249460 43249460 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:43249460C>T ENST00000255226.6 + 16 3042 c.2226C>T c.(2224-2226)ccC>ccT p.P742P RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Silent_p.P219P|SLC14A2_ENST00000586448.1_Silent_p.P742P NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 742 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCCAAGTGCCCTTGGTACGTA 0.517000 34 43 0 0 1 0 0 OR11H4 390442 broad.mit.edu 37 14 20710962 20710962 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:20710962C>T ENST00000315409.2 + 1 65 c.12C>T c.(10-12)ttC>ttT p.F4F NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) TGTCTTTCTTCTTTGTAGACT 0.423000 15 18 0 0 1 0 0 OR8K1 390157 broad.mit.edu 37 11 56114057 56114057 + Missense_Mutation SNP C C G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:56114057C>G ENST00000279783.2 + 1 637 c.543C>G c.(541-543)agC>agG p.S181R NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) ACATAATCAGCTATTTTTACT 0.358000 HNSCC(65;0.19) 66 7 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65394966 65394966 + Missense_Mutation SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:65394966C>A ENST00000355703.3 + 22 4154 c.3615C>A c.(3613-3615)ttC>ttA p.F1205L NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1205 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CGTTGGCCTTCACCGTCCTGC 0.617000 96 8 3.79737e-34 3.88185e-34 1 1 0 CAD 790 broad.mit.edu 37 2 27457493 27457493 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:27457493C>T ENST00000264705.4 + 23 3888 c.3726C>T c.(3724-3726)atC>atT p.I1242I CAD_ENST00000403525.1_Silent_p.I1179I NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1242 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CGCGGGTCATCATGGGGGAAG 0.507000 31 28 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54756761 54756761 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:54756761G>A ENST00000450632.1 - 9 1497 c.1420C>T c.(1420-1422)Cgg>Tgg p.R474W LILRB5_ENST00000345866.6_Missense_Mutation_p.R383W|LILRB5_ENST00000316219.5_Missense_Mutation_p.R482W|LILRB5_ENST00000449561.2_Missense_Mutation_p.R483W O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 482 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTCTGATGCCGATGTCggagg 0.627000 36 51 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995558 19995558 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:19995558G>A ENST00000391403.2 - 1 2320 c.2217C>T c.(2215-2217)ttC>ttT p.F739F NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 739 Pro-rich. integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGGCTGGGGGGAAAAATGCAG 0.498000 9 16 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212587206 212587206 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:212587206G>A ENST00000342788.4 - 7 1105 c.795C>T c.(793-795)acC>acT p.T265T ERBB4_ENST00000402597.1_Silent_p.T265T|ERBB4_ENST00000436443.1_Silent_p.T265T NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 265 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TGTAGACAAAGGTTTGGGGAC 0.383000 TSP Lung(8;0.080) 13 19 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38857459 38857459 + Silent SNP G G A rs150900239 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:38857459G>A ENST00000310301.4 - 7 462 c.408C>T c.(406-408)ttC>ttT p.F136F VPS41_ENST00000395969.2_Silent_p.F111F NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 136 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding p.F136F(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TGGATCTCACGAAATGTGGGT 0.468000 44 46 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519884 69519884 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:69519884G>A ENST00000338206.5 - 5 1193 c.1184C>T c.(1183-1185)cCc>cTc p.P395L NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 395 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CGCAAACAAGGGAATGCCCAC 0.463000 39 86 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29587415 29587415 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:29587415C>T ENST00000358273.4 + 34 4842 c.4459C>T c.(4459-4461)Cct>Tct p.P1487S NF1_ENST00000356175.3_Missense_Mutation_p.P1466S NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1487 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATCTGATTGTCCTACAAGTGA 0.353000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 30 38 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900668 151900668 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:151900668G>A ENST00000393900.3 - 3 486 c.133C>T c.(133-135)Cta>Tta p.L45L MAGEA12_ENST00000357916.4_Silent_p.L45L|MAGEA12_ENST00000393869.3_Silent_p.L45L|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 45 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) ACTTCCACTAGAGTAGAGGAG 0.632000 21 3 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52860910 52860910 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:52860910G>A ENST00000343457.3 - 4 2284 c.2278C>T c.(2278-2280)Caa>Taa p.Q760* NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 760 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GGAATTGTTTGGAAGGTAACA 0.478000 28 29 0 0 1 0 0 CRCT1 54544 broad.mit.edu 37 1 152487912 152487912 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:152487912C>T ENST00000368790.3 + 2 126 c.53C>T c.(52-54)tCc>tTc p.S18F NM_019060.2 NP_061933.1 Q9UGL9 CRCT1_HUMAN cysteine-rich C-terminal 1 18 lung(1)|ovary(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AAGGGGTCGTCCCAGGGcccc 0.692000 19 16 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58190182 58190182 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:58190182G>A ENST00000302581.2 - 1 604 c.553C>T c.(553-555)Ctg>Ttg p.L185L NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAGCAAGACAGAGCCATGACT 0.378000 26 3 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141108564 141108564 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:141108564G>A ENST00000389484.3 - 77 12665 c.11694C>T c.(11692-11694)atC>atT p.I3898I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3898 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAAAACCCAGGATATCAGTGT 0.289000 TSP Lung(27;0.18) 22 36 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123332506 123332506 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:123332506G>A ENST00000296513.2 + 9 1163 c.978G>A c.(976-978)atG>atA p.M326I ADAD1_ENST00000388725.2_Missense_Mutation_p.M308I|ADAD1_ENST00000388724.2_Missense_Mutation_p.M315I NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 326 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 GCCTTTACATGAACCAGTTGC 0.348000 18 28 0 0 1 0 0 OR7G1 125962 broad.mit.edu 37 19 9225634 9225634 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:9225634C>T ENST00000293614.1 - 1 805 c.806G>A c.(805-807)cGa>cAa p.R269Q OR7G1_ENST00000541538.1_Missense_Mutation_p.R269Q Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 AGCAGTAATTCGGGAAGACTC 0.458000 20 32 0 0 1 0 0 ATP6V1G2-DDX39B 100532737 broad.mit.edu 37 6 31513937 31513937 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:31513937C>T ENST00000376185.1 - 2 154 c.132G>A c.(130-132)gtG>gtA p.V44V ATP6V1G2_ENST00000303892.5_Silent_p.V44V|ATP6V1G2_ENST00000483170.1_5'UTR|ATP6V1G2-DDX39B_ENST00000475917.1_5'UTR|ATP6V1G2_ENST00000483251.1_Silent_p.V3V|ATP6V1G2_ENST00000376151.4_Intron GGTATTGCTCCACCTCCATCT 0.592000 20 53 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95167013 95167013 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:95167013C>T ENST00000325885.5 + 5 1294 c.1223C>T c.(1222-1224)tCc>tTc p.S408F NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 408 SOCS box. intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CCTTTGCTTTCCCTCCCATTG 0.408000 48 47 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 5 49 0 0 1 0 0 AIPL1 23746 broad.mit.edu 37 17 6329956 6329956 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:6329956C>T ENST00000381129.3 - 5 843 c.763G>A c.(763-765)Gat>Aat p.D255N AIPL1_ENST00000570466.1_Missense_Mutation_p.D233N|AIPL1_ENST00000575265.1_Missense_Mutation_p.D255N|AIPL1_ENST00000250087.5_Missense_Mutation_p.D192N|AIPL1_ENST00000576776.1_Missense_Mutation_p.D231N|AIPL1_ENST00000576307.1_Missense_Mutation_p.D195N|AIPL1_ENST00000574506.1_Missense_Mutation_p.D243N|AIPL1_ENST00000571740.1_Missense_Mutation_p.D247N NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 255 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) CGGAGAATATCACTGGTGTGC 0.607000 18 19 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119968803 119968803 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:119968803C>T ENST00000327554.2 + 13 1951 c.1486C>T c.(1486-1488)Ctg>Ttg p.L496L RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 496 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CCATGTCCTCCTGAAGGTGCT 0.527000 22 20 0 0 1 0 0 BIN2 51411 broad.mit.edu 37 12 51685768 51685768 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:51685768C>T ENST00000267012.4 - 10 1183 c.1122G>A c.(1120-1122)ctG>ctA p.L374L BIN2_ENST00000452142.2_Silent_p.L342L|BIN2_ENST00000604560.1_Silent_p.L347L|BIN2_ENST00000544402.1_Silent_p.L348L NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 374 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CTGAAGGGCTCAGGGCTCCGC 0.597000 19 25 0 0 1 0 0 MEP1B 4225 broad.mit.edu 37 18 29797013 29797013 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:29797013C>T ENST00000269202.6 + 13 1866 c.1819C>T c.(1819-1821)Ctc>Ttc p.L607F MEP1B_ENST00000581447.1_Missense_Mutation_p.L607F NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 607 EGF-like. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TGTTCAAGACCTCTGCTCAAA 0.453000 26 23 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336154 124336154 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:124336154G>A ENST00000368909.3 + 7 629 c.523G>A c.(523-525)Gaa>Aaa p.E175K DMBT1_ENST00000359586.6_Missense_Mutation_p.E175K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E175K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E175K|DMBT1_ENST00000338354.3_Missense_Mutation_p.E175K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E175K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E175K NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 175 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTCAGGACACGAATCCTACCT 0.582000 47 46 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53222222 53222222 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:53222222G>A ENST00000375401.3 - 26 5142 c.4610C>T c.(4609-4611)tCg>tTg p.S1537L KDM5C_ENST00000375379.3_Missense_Mutation_p.S1534L|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Missense_Mutation_p.S1493L|KDM5C_ENST00000404049.3_Missense_Mutation_p.S1536L NM_004187.3 NP_004178.2 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1537 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 GAAAGGGGCCGAGGGGCCTGA 0.662000 """N, F, S""" clear cell renal carcinoma 11 0 0 0 1 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134477499 134477499 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:134477499G>A ENST00000372195.1 - 12 2186 c.1943C>T c.(1942-1944)cCc>cTc p.P648L RAPGEF1_ENST00000372190.3_Missense_Mutation_p.P649L|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.P631L Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 631 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GACCGCTGAGGGATCTCTGGG 0.652000 10 3 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133175110 133175110 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:133175110G>A ENST00000329321.3 + 1 964 c.495G>A c.(493-495)ctG>ctA p.L165L NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 165 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTCCGCCCTGGTGGCACTGC 0.627000 20 20 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139724423 139724423 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:139724423G>A ENST00000263549.3 - 12 2916 c.2043C>T c.(2041-2043)tcC>tcT p.S681S NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 681 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) CCGAGGGCTTGGAGGAGGTGG 0.567000 25 42 0 0 1 0 0 IGLV3-21 28796 broad.mit.edu 37 22 23055644 23055644 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:23055644G>A ENST00000390308.2 + 0 558 GGATGAGGCCGACTATTACTG 0.587000 5 13 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997465 115997465 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:115997465G>A ENST00000264363.2 - 2 1406 c.728C>T c.(727-729)tCc>tTc p.S243F NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 243 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GGATGACAGGGATTTTTCTGT 0.423000 33 36 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67014668 67014668 + Missense_Mutation SNP A A T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:67014668A>T ENST00000340001.4 - 20 2864 c.2653T>A c.(2653-2655)Tac>Aac p.Y885N ABCA9_ENST00000453985.2_Missense_Mutation_p.Y885N|ABCA9_ENST00000370732.2_Missense_Mutation_p.Y885N NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 885 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TATGACTCGTAGAATAGATGT 0.368000 89 105 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60821803 60821803 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:60821803C>T ENST00000544856.2 - 6 844 c.466G>A c.(466-468)Gca>Aca p.A156T MARCH10_ENST00000311269.5_Missense_Mutation_p.A157T|MARCH10_ENST00000456609.2_Missense_Mutation_p.A157T|MARCH10_ENST00000583600.1_Missense_Mutation_p.A195T Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 157 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TCCCCAGATGCTCTCGGGCTG 0.537000 38 49 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75329260 75329260 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:75329260C>T ENST00000556489.2 - 1 1277 c.1278G>A c.(1276-1278)atG>atA p.M426I PROX2_ENST00000445876.1_Missense_Mutation_p.M426I|PROX2_ENST00000556084.2_Intron NM_001243007.1 NP_001229936.1 Q3B8N5 PROX2_HUMAN prospero homeobox 2 426 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GCAGTGCCTCCATGACAGCAT 0.517000 29 31 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27805006 27805006 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:27805006C>T ENST00000408964.2 + 1 5618 c.5567C>T c.(5566-5568)cCc>cTc p.P1856L NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1856 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. p.S1873Y(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CACCTCAGTCCCTTGGAAAGA 0.552000 24 46 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004462 248004462 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:248004462G>A ENST00000355784.2 - 1 792 c.737C>T c.(736-738)gCt>gTt p.A246V NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGTGACAACAGCCAGGTGGGA 0.498000 14 40 0 0 1 0 0 HDAC7 51564 broad.mit.edu 37 12 48189006 48189006 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:48189006G>A ENST00000080059.7 - 11 1244 c.1245C>T c.(1243-1245)ccC>ccT p.P415P HDAC7_ENST00000552960.1_Silent_p.P398P|HDAC7_ENST00000427332.2_Silent_p.P376P|HDAC7_ENST00000380610.4_Silent_p.P432P|HDAC7_ENST00000354334.3_Silent_p.P378P NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 376 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) GCTCCAGGCGGGGCTGCATGG 0.647000 54 66 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46976883 46976883 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:46976883G>A ENST00000371956.4 + 3 640 c.625G>A c.(625-627)Gac>Aac p.D209N DMBX1_ENST00000360032.3_Missense_Mutation_p.D204N NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 209 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) AGGGGCTGAGGACCCCAAAGC 0.662000 9 14 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90046367 90046367 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:90046367G>A ENST00000405460.2 + 53 11070 c.e53-1 NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TATTTTTTCAGAATTCATTAT 0.363000 24 37 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79572091 79572091 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:79572091G>A ENST00000372391.2 - 21 4075 c.4070C>T c.(4069-4071)tCa>tTa p.S1357L DLG5_ENST00000372388.2_Missense_Mutation_p.S1017L|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1357 PDZ 3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CAGCGGCTCTGAGCCCTTCTG 0.577000 16 21 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188225440 188225440 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:188225440C>T ENST00000409998.1 - 11 1447 c.666G>A c.(664-666)ctG>ctA p.L222L CALCRL_ENST00000410068.1_Silent_p.L222L|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.L222L|AC007319.1_ENST00000412276.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 222 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TACAGCCCATCAGGTAAAGAT 0.378000 13 19 0 0 1 0 0 LOXL4 84171 broad.mit.edu 37 10 100013501 100013501 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:100013501C>T ENST00000260702.3 - 11 1794 c.1644G>A c.(1642-1644)ttG>ttA p.L548L RP11-34A14.3_ENST00000433374.1_RNA NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 548 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) GGCGGTCCTCCAAGTAGGCCG 0.627000 16 17 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105217 168105217 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:168105217G>A ENST00000409195.1 + 9 7404 c.7315G>A c.(7315-7317)Gat>Aat p.D2439N XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2217N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2439N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2264 actin cytoskeleton organization cell junction actin binding p.D2439N(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAATAAGAACGATTTTTCCCC 0.408000 31 36 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89398253 89398253 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:89398253C>T ENST00000439576.2 + 12 2811 c.2437C>T c.(2437-2439)Ccc>Tcc p.P813S ACAN_ENST00000352105.7_Missense_Mutation_p.P813S|ACAN_ENST00000559004.1_Missense_Mutation_p.P813S|ACAN_ENST00000561243.1_Missense_Mutation_p.P813S NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 813 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GAGGCCATTCCCCTCAGTGGA 0.607000 4 7 0 0 1 0 0 RPL10L 140801 broad.mit.edu 37 14 47120418 47120418 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:47120418C>T ENST00000298283.3 - 1 610 c.522G>A c.(520-522)acG>acA p.T174T NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 174 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 CATTAAACTTCGTGAAGCCCC 0.507000 23 43 0 0 1 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76191779 76191779 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:76191779C>T ENST00000267938.4 + 13 1490 c.1108C>T c.(1108-1110)Cct>Tct p.P370S UBE2Q2_ENST00000561851.1_Missense_Mutation_p.P354S|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.P299L|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.P335S NM_173469.2 NP_775740.1 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q family member 2 370 protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 12 CTGGTACACCCCTCCAAAGGA 0.328000 11 11 0 0 1 0 0 SPRR3 6707 broad.mit.edu 37 1 152975921 152975921 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:152975921C>T ENST00000331860.3 + 3 575 c.425C>T c.(424-426)cCt>cTt p.P142L SPRR3_ENST00000542696.1_Missense_Mutation_p.P134L|SPRR3_ENST00000295367.4_Missense_Mutation_p.P142L NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 142 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACCAAAGTTCCTGTGCCAGGC 0.527000 27 19 0 0 1 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17363326 17363326 + Nonsense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:17363326T>A ENST00000377602.4 - 8 822 c.748A>T c.(748-750)Aaa>Taa p.K250* NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 250 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 AGGGCTTTTTTTTCCTTTAAG 0.348000 10 14 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434308 179434308 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:179434308C>T ENST00000589042.1 - 326 76775 c.76551G>A c.(76549-76551)agG>agA p.R25517R TTN_ENST00000460472.2_Silent_p.R16452R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.R23876R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.R16577R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.R22949R|TTN_ENST00000342175.6_Silent_p.R16644R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23876 Fibronectin type-III 85. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTATGATTTTCCTTAGTTCTA 0.393000 9 9 0 0 1 0 0 ADAD2 161931 broad.mit.edu 37 16 84229646 84229646 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:84229646C>T ENST00000268624.3 + 8 1617 c.1524C>T c.(1522-1524)atC>atT p.I508I RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000315906.5_Silent_p.I426I|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 426 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 CCAGCCTCATCCTGGGTGAGC 0.667000 26 20 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281357 152281357 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:152281357C>T ENST00000368799.1 - 3 6040 c.6005G>A c.(6004-6006)gGa>gAa p.G2002E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2002 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGTCTTTCTCCTGCACTTGA 0.547000 Ichthyosis 200 841 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36211033 36211033 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:36211033C>T ENST00000420124.1 + 3 784 c.784C>T c.(784-786)Cag>Tag p.Q262* WBP7_ENST00000222270.7_Nonsense_Mutation_p.Q262*|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Nonsense_Mutation_p.Q262* AGTGAAACATCAGACTGGCAG 0.642000 5 4 0 0 1 0 0 NANOG 79923 broad.mit.edu 37 12 7947339 7947339 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:7947339C>T ENST00000229307.4 + 4 785 c.566C>T c.(565-567)cCg>cTg p.P189L NANOG_ENST00000526286.1_Missense_Mutation_p.P173L NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 189 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) CTGGTGAACCCGACTGGGAAC 0.532000 4 15 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40735440 40735440 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:40735440G>A ENST00000373198.3 - 25 3677 c.3442C>T c.(3442-3444)Ctg>Ttg p.L1148L PTPRT_ENST00000373190.1_Silent_p.L1125L|PTPRT_ENST00000373201.1_Silent_p.L1116L|PTPRT_ENST00000356100.2_Silent_p.L1135L|PTPRT_ENST00000373187.1_Silent_p.L1126L|PTPRT_ENST00000373193.3_Silent_p.L1129L|PTPRT_ENST00000373184.1_Silent_p.L1136L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1126 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTCTGTACCAGGTTGACCCTT 0.542000 27 95 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848207 73848207 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:73848207C>T ENST00000523207.1 + 3 1205 c.617C>T c.(616-618)tCc>tTc p.S206F NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 206 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATTGTGCTTTCCACCATTGCT 0.488000 58 59 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111319004 111319004 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:111319004G>A ENST00000308208.5 + 7 999 c.757G>A c.(757-759)Gag>Aag p.E253K CCDC63_ENST00000545036.1_Missense_Mutation_p.E213K|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000552694.1_Missense_Mutation_p.E174K NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 253 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 CCGAGAGCTGGAGCGTCTCTA 0.552000 10 10 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851397 43851397 + Missense_Mutation SNP C C T rs146527428 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:43851397C>T ENST00000372769.3 + 2 1214 c.1124C>T c.(1123-1125)tCg>tTg p.S375L NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 375 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) GGCAGTATTTCGATCCAAACT 0.368000 16 48 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138333805 138333805 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:138333805G>A ENST00000421622.1 - 4 460 c.252C>T c.(250-252)ctC>ctT p.L84L SVOPL_ENST00000419765.3_Silent_p.L204L|SVOPL_ENST00000436657.1_Silent_p.L52L|SVOPL_ENST00000288513.5_Silent_p.L52L Q8N434 SVOPL_HUMAN SVOP-like 204 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CGACGCGAATGAGCCAGCGCC 0.607000 30 37 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398358 23398358 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:23398358C>T ENST00000379361.4 + 2 1862 c.1002C>T c.(1000-1002)ttC>ttT p.F334F NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 334 SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 GAGTCCCTTTCGTCATGCTAG 0.483000 29 3 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 123983539 123983539 + Splice_Site SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:123983539T>G ENST00000360013.3 + 4 577 c.e4+2 KALRN_ENST00000460856.1_Splice_Site|KALRN_ENST00000240874.3_Splice_Site NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATCTTTGAGGTGAGCCAGATT 0.468000 15 14 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39379418 39379418 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:39379418C>T ENST00000518318.2 + 5 731 c.689C>T c.(688-690)cCc>cTc p.P230L POU6F2_ENST00000559001.1_Missense_Mutation_p.P222L|POU6F2_ENST00000403058.1_Missense_Mutation_p.P230L|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 230 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 cagccaccacccgcctctcag 0.687000 6 6 0 0 1 0 0 OR6C76 390326 broad.mit.edu 37 12 55820223 55820223 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:55820223G>A ENST00000328314.3 + 1 186 c.186G>A c.(184-186)agG>agA p.R62R NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TCTTCCTCAGGAATTTCTCCT 0.393000 52 48 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168123384 168123384 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:168123384C>T ENST00000519560.1 - 28 3414 c.2995G>A c.(2995-2997)Gac>Aac p.D999N SLIT3_ENST00000404867.3_Missense_Mutation_p.D999N|SLIT3_ENST00000332966.8_Missense_Mutation_p.D1006N NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 999 EGF-like 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTCACAGTCATCTGGGTTG 0.562000 27 28 0 0 1 0 0 FAM214B 80256 broad.mit.edu 37 9 35108110 35108110 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:35108110G>A ENST00000378561.1 - 2 3217 c.162C>T c.(160-162)tcC>tcT p.S54S FAM214B_ENST00000488109.2_Silent_p.S54S|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378554.2_Silent_p.S54S|FAM214B_ENST00000603301.1_Silent_p.S54S|FAM214B_ENST00000605244.1_Silent_p.S54S|FAM214B_ENST00000378557.1_Silent_p.S54S|FAM214B_ENST00000322813.5_Silent_p.S54S Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 54 nucleus CAGCCGGAGGGGAAAAGATGG 0.672000 21 3 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88533290 88533290 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:88533290G>A ENST00000399271.1 + 3 205 c.85G>A c.(85-87)Gaa>Aaa p.E29K RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.E29K NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 29 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GAGACATGTCGAAAAATCCAT 0.368000 7 15 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191366 152191366 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:152191366G>A ENST00000368801.2 - 3 2814 c.2739C>T c.(2737-2739)tcC>tcT p.S913S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 913 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGACCGACCGGAGCCAGACC 0.637000 55 146 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801066 185801066 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:185801066C>T ENST00000302277.6 + 4 1537 c.943C>T c.(943-945)Caa>Taa p.Q315* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 315 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTGCAAGTTTCAACTTCAGTT 0.338000 9 15 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13729620 13729620 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:13729620C>T ENST00000265104.4 - 69 11915 c.11811G>A c.(11809-11811)tgG>tgA p.W3937* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3937 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.W3937*(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGTCCAGGATCCATTTTGATG 0.368000 Kartagener syndrome 19 19 0 0 1 0 0 FGFR1OP 11116 broad.mit.edu 37 6 167435937 167435937 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:167435937C>T ENST00000366847.3 + 8 851 c.620C>T c.(619-621)tCc>tTc p.S207F FGFR1OP_ENST00000349556.4_Missense_Mutation_p.S187F NM_007045.2 NP_008976.1 O95684 FR1OP_HUMAN FGFR1 oncogene partner 207 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) ACAAGTGTCTCCTTGTCAGAA 0.398000 T FGFR1 """MPD, NHL""" 15 23 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10783110 10783110 + Splice_Site SNP C C G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:10783110C>G ENST00000283025.2 - 3 790 c.719_splice c.e3+1 p.R240_splice NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 240 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 AAGCCCTTACCGCATCTGGAT 0.413000 12 14 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142564680 142564680 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:142564680C>T ENST00000392957.2 + 11 2391 c.1604C>T c.(1603-1605)tCc>tTc p.S535F EPHB6_ENST00000411471.2_Missense_Mutation_p.S258F|EPHB6_ENST00000442129.1_Missense_Mutation_p.S535F NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 535 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GAATCCCACTCCTTCACCCTG 0.657000 60 84 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35010110 35010110 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:35010110C>T ENST00000231420.6 - 12 1533 c.1333G>A c.(1333-1335)Gat>Aat p.D445N NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 445 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CCTACCTTATCCTGCACCATT 0.458000 22 27 0 0 1 0 0 ABCB10 23456 broad.mit.edu 37 1 229675332 229675332 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:229675332G>A ENST00000344517.4 - 6 1252 c.1210C>T c.(1210-1212)Ctc>Ttc p.L404F NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 404 ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) TTTCCGGAGAGCCCAGTCTGT 0.493000 24 45 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62733965 62733965 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:62733965G>A ENST00000371153.4 - 5 2603 c.2225C>T c.(2224-2226)gCc>gTc p.A742V KANK4_ENST00000371150.1_Missense_Mutation_p.A98V|KANK4_ENST00000354381.3_Missense_Mutation_p.A114V NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 742 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 TCACCTCTCGGCCTTGGAGTG 0.562000 11 20 0 0 1 0 0 IGHA2 3494 broad.mit.edu 37 14 106053549 106053549 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:106053549G>A ENST00000390539.2 - 0 747 TGCAGCCAGCGAACCAGCACA 0.677000 11 21 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13701415 13701415 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:13701415C>T ENST00000265104.4 - 77 13573 c.13469G>A c.(13468-13470)gGa>gAa p.G4490E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4490 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGTTAAAAATCCCTGGGGGTT 0.408000 Kartagener syndrome 29 32 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110252476 110252476 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:110252476C>T ENST00000418703.2 - 1 220 c.126G>A c.(124-126)ggG>ggA p.G42G TRPV4_ENST00000392719.2_Silent_p.G42G|TRPV4_ENST00000541794.1_Silent_p.G42G|TRPV4_ENST00000346520.2_Silent_p.G42G|TRPV4_ENST00000261740.2_Silent_p.G42G|TRPV4_ENST00000544971.1_Silent_p.G42G|TRPV4_ENST00000537083.1_Silent_p.G42G|TRPV4_ENST00000536838.1_Intron NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 42 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 AGCCATCCTCCCCCTCAAACA 0.677000 8 5 0 0 1 0 0 ADORA1 134 broad.mit.edu 37 1 203134734 203134734 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:203134734G>A ENST00000367236.4 + 3 1608 c.687G>A c.(685-687)gaG>gaA p.E229E ADORA1_ENST00000309502.3_Silent_p.E229E|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.E229E NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 229 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) ATGGGAAGGAGCTGAAGATCG 0.572000 69 33 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133475757 133475757 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:133475757G>A ENST00000402696.3 + 7 1259 c.774G>A c.(772-774)aaG>aaA p.K258K TF_ENST00000264998.3_Silent_p.K131K NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 258 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) ATGAATACAAGGACTGCCACT 0.572000 34 42 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45369757 45369757 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:45369757C>T ENST00000559488.1 + 10 1529 c.1513C>T c.(1513-1515)Cgc>Tgc p.R505C ITGB3_ENST00000560629.1_Missense_Mutation_p.S493L|ITGB3_ENST00000435993.2_Missense_Mutation_p.R458C NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 505 Cysteine-rich tandem repeats. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) GGAGGACTATCGCCCTTCCCA 0.627000 24 31 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100691270 100691270 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:100691270G>A ENST00000306151.4 + 4 12473 c.12409G>A c.(12409-12411)Gga>Aga p.G4137R NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4137 EGF-like. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACAGGCTTTGGAGATGGGTG 0.517000 78 101 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54894365 54894365 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:54894365C>T ENST00000293373.6 + 3 341 c.262C>T c.(262-264)Ctc>Ttc p.L88F NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L38F NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 88 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AATTAGATTCCTCACCAACTA 0.388000 26 43 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52575874 52575874 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:52575874G>A ENST00000395489.2 - 11 1408 c.1012C>T c.(1012-1014)Cct>Tct p.P338S A1CF_ENST00000373995.3_Missense_Mutation_p.P353S|A1CF_ENST00000373993.1_Missense_Mutation_p.P345S|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000373997.3_Missense_Mutation_p.P345S|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.P290S|A1CF_ENST00000282641.2_Missense_Mutation_p.P345S|A1CF_ENST00000374001.1_Missense_Mutation_p.P345S NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 345 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TAGAAGACAGGAGCTCCAAGG 0.532000 19 22 0 0 1 0 0 SYCE1 93426 broad.mit.edu 37 10 135372833 135372833 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:135372833C>T ENST00000368517.3 - 3 198 c.60G>A c.(58-60)ctG>ctA p.L20L SYCE1_ENST00000432597.2_Silent_p.L20L|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Silent_p.L56L NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 56 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TCCGGTTAATCAGGACCTCAA 0.582000 24 26 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208216436 208216436 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:208216436G>A ENST00000367033.3 - 21 4744 c.3987C>T c.(3985-3987)atC>atT p.I1329I NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1329 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GGTGGTCCTCGATGCCCGGGA 0.597000 23 40 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124034607 124034607 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:124034607C>T ENST00000368994.2 + 2 262 c.11C>T c.(10-12)tCg>tTg p.S4L BTBD16_ENST00000260723.4_Missense_Mutation_p.S4L Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 4 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) ATGATAATGTCGAACACGGTG 0.393000 31 34 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170007497 170007497 + Missense_Mutation SNP G G C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:170007497G>C ENST00000367765.1 - 5 1832 c.331C>G c.(331-333)Cgg>Ggg p.R111G KIFAP3_ENST00000538366.1_Missense_Mutation_p.R73G|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R107G|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.R151G NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 151 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCAGAACCCCGAACTTTGTCA 0.328000 41 24 0 0 1 0 0 APOA1BP 128240 broad.mit.edu 37 1 156563765 156563765 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:156563765C>T ENST00000368234.3 + 6 743 c.700C>T c.(700-702)Cgg>Tgg p.R234W APOA1BP_ENST00000368235.3_Silent_p.T252T Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 0 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCAGTTTACCGGTCGCTACC 0.542000 59 137 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22939793 22939793 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:22939793C>T ENST00000397104.3 - 6 2537 c.2538G>A c.(2536-2538)agG>agA p.R846R zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTATGTTTCCTAAGGGCTG 0.348000 14 19 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72406140 72406140 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:72406140G>A ENST00000359373.5 - 27 4430 c.3579C>T c.(3577-3579)gtC>gtT p.V1193V ARAP1_ENST00000393605.3_Silent_p.V953V|ARAP1_ENST00000429686.1_Silent_p.V887V|ARAP1_ENST00000426523.1_Silent_p.V948V|ARAP1_ENST00000393609.3_Silent_p.V1193V|ARAP1_ENST00000455638.2_Silent_p.V1193V|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.V948V Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1193 Ras-associating. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TGGATGCTGGGACCTGCAAGG 0.582000 42 1 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518280 113518280 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:113518280G>A ENST00000284601.3 - 4 2935 c.2867C>T c.(2866-2868)tCa>tTa p.S956L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 956 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 TTCTCTTGTTGAATTACAAAT 0.383000 43 55 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44177177 44177177 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:44177177G>A ENST00000360029.3 - 2 1335 c.1052C>T c.(1051-1053)tCc>tTc p.S351F NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 351 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 CTCATTACAGGAAGTCCCACT 0.468000 HNSCC(17;0.042) 21 16 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126333096 126333096 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:126333096G>A ENST00000525144.2 - 6 947 c.698C>T c.(697-699)gCc>gTc p.A233V KIRREL3_ENST00000525704.2_Missense_Mutation_p.A233V|KIRREL3_ENST00000529097.2_Missense_Mutation_p.A233V NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 233 Ig-like C2-type 2. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) TCCGGGGATGGCTTTGTTGGT 0.627000 22 1 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66872782 66872782 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:66872782C>T ENST00000269080.2 - 32 4279 c.4142G>A c.(4141-4143)gGa>gAa p.G1381E ABCA8_ENST00000586539.1_Missense_Mutation_p.G1421E|ABCA8_ENST00000430352.2_Missense_Mutation_p.G1421E NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1381 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TCTCTTTATTCCCTCTGACAA 0.527000 22 37 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55883554 55883554 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:55883554C>T ENST00000521992.1 - 12 1637 c.1492G>A c.(1492-1494)Ggg>Agg p.G498R CES5A_ENST00000290567.9_Missense_Mutation_p.G469R|CES5A_ENST00000518005.1_Missense_Mutation_p.G363R|CES5A_ENST00000520435.1_Missense_Mutation_p.G439R|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Intron NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 469 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 ACAATGTCCCCCTTCAGGAAG 0.567000 40 67 0 0 1 0 0 RIPK2 8767 broad.mit.edu 37 8 90782052 90782052 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:90782052G>A ENST00000220751.4 + 4 850 c.536G>A c.(535-537)cGa>cAa p.R179Q RIPK2_ENST00000540020.1_Missense_Mutation_p.R42Q NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 179 Protein kinase. activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TCACAGTCACGAAGTAGCAAA 0.393000 58 67 0 0 1 0 0 MDH1 4190 broad.mit.edu 37 2 63826365 63826365 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:63826365C>T ENST00000233114.8 + 5 872 c.437C>T c.(436-438)tCc>tTc p.S146F MDH1_ENST00000539945.1_Missense_Mutation_p.S164F|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000544381.1_Missense_Mutation_p.S57F|MDH1_ENST00000409476.1_Missense_Mutation_p.S22F|MDH1_ENST00000394423.1_Missense_Mutation_p.S146F NM_005917.3 NP_005908.1 P40925 MDHC_HUMAN malate dehydrogenase 1, NAD (soluble) 146 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4) 13 NADH(DB00157) TCAGCTCCATCCATCCCCAAG 0.423000 23 22 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66873812 66873812 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:66873812C>T ENST00000269080.2 - 31 4064 c.3927G>A c.(3925-3927)ctG>ctA p.L1309L ABCA8_ENST00000586539.1_Silent_p.L1349L|ABCA8_ENST00000430352.2_Silent_p.L1349L NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1309 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CGCTCCCTTTCAGTAGCACCT 0.537000 23 26 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249868 140249868 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:140249868T>A ENST00000398640.2 + 1 1180 c.1180T>A c.(1180-1182)Ttc>Atc p.F394I PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACGTTCCCTTCAAGCTGGT 0.607000 55 51 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684371 100684371 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:100684371C>T ENST00000306151.4 + 3 9738 c.9674C>T c.(9673-9675)aCt>aTt p.T3225I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3225 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTCCATTAACTAGTGTACCT 0.483000 232 247 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70049388 70049388 + Silent SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:70049388C>A ENST00000370598.1 + 26 4272 c.3451C>A c.(3451-3453)Cgg>Agg p.R1151R BAI3_ENST00000238918.8_Silent_p.R357R|BAI3_ENST00000546190.1_Silent_p.R115R NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1151 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CTGCATTCTTCGGAGAGAGGT 0.373000 35 49 3.43241e-23 3.50169e-23 1 1 0 ABCB10 23456 broad.mit.edu 37 1 229654618 229654618 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:229654618G>A ENST00000344517.4 - 12 1997 c.1955C>T c.(1954-1956)cCc>cTc p.P652L ABCB10_ENST00000498158.1_5'UTR NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 652 ABC transporter. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) AAGAATTTTGGGATTCTGAAG 0.299000 20 34 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105819932 105819932 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:105819932G>A ENST00000353479.5 - 14 1376 c.1086C>T c.(1084-1086)atC>atT p.I362I COL17A1_ENST00000393211.3_Silent_p.I362I|COL17A1_ENST00000369733.3_Silent_p.I362I NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 362 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CCTTGGTCATGATGAGCAGCT 0.522000 21 39 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 306561 306561 + Missense_Mutation SNP A A C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:306561A>C ENST00000428720.1 - 10 1800 c.1057T>G c.(1057-1059)Tct>Gct p.S353A SLC6A12_ENST00000359674.4_Missense_Mutation_p.S353A|SLC6A12_ENST00000424061.2_Missense_Mutation_p.S353A|SLC6A12_ENST00000397296.2_Missense_Mutation_p.S353A|SLC6A12_ENST00000536824.1_Missense_Mutation_p.S353A NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 353 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GCCACTTCAGAAATGGGCACC 0.557000 6 12 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24566228 24566228 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:24566228C>T ENST00000216780.4 + 2 425 c.157C>T c.(157-159)Cgc>Tgc p.R53C NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.R65C|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Missense_Mutation_p.R53C NM_004563.2 NP_004554.2 Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 53 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) GCACAGTGCCCGCCTGTGCCA 0.582000 17 42 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28276336 28276336 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:28276336C>T ENST00000305242.5 - 3 453 c.361G>A c.(361-363)Gaa>Aaa p.E121K ARMC4_ENST00000239715.3_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 121 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GCTTGGGCTTCCTTCAACTTC 0.438000 11 15 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509279 110509279 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:110509279T>A ENST00000378402.5 + 64 10563 c.10459T>A c.(10459-10461)Tat>Aat p.Y3487N NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3487 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATGCTGGGATTATGGAATTTA 0.338000 HNSCC(38;0.096) 12 22 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30672231 30672231 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:30672231C>T ENST00000534862.1 + 9 1023 c.660C>T c.(658-660)ccC>ccT p.P220P HCK_ENST00000375862.2_Silent_p.P239P|HCK_ENST00000538448.1_Silent_p.P219P|HCK_ENST00000520553.1_Silent_p.P219P|HCK_ENST00000518730.1_Silent_p.P218P|HCK_ENST00000375852.2_Silent_p.P240P NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 240 SH2. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGTCGGTGCCCTGCATGTCTT 0.572000 17 26 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44610692 44610692 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:44610692G>A ENST00000336976.6 + 6 633 c.379G>A c.(379-381)Gaa>Aaa p.E127K AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 127 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GTTCTCCAAAGAAGGTGATTT 0.423000 27 33 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13864594 13864594 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:13864594G>A ENST00000265104.4 - 28 4612 c.4508C>T c.(4507-4509)aCc>aTc p.T1503I CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1503 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACTGTGCCCGGTGAGGGTGGT 0.453000 Kartagener syndrome 13 18 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60601685 60601685 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:60601685C>T ENST00000326270.9 + 6 624 c.356C>T c.(355-357)cCc>cTc p.P119L TLK2_ENST00000542523.1_Intron|TLK2_ENST00000343388.7_Intron|TLK2_ENST00000346027.5_Missense_Mutation_p.P119L|TLK2_ENST00000582809.1_5'UTR Q86UE8 TLK2_HUMAN tousled-like kinase 2 119 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TTATCCAATCCCTTACCGGTA 0.502000 10 8 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129637249 129637249 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:129637249G>A ENST00000421865.2 + 27 4040 c.3991G>A c.(3991-3993)Gat>Aat p.D1331N NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1331 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGACTTCTTGGATATACTATA 0.333000 19 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179614089 179614089 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:179614089G>A ENST00000360870.5 - 46 13260 c.13038C>T c.(13036-13038)atC>atT p.I4346I TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 480 Ig-like 23. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGGCTTGCTGATTTTTATGG 0.423000 33 47 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42992767 42992767 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:42992767G>A ENST00000253408.5 - 1 153 c.88C>T c.(88-90)Cgt>Tgt p.R30C GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.R30C|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Missense_Mutation_p.R30C NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 30 Head. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) GGACCCAGACGGCGGCCAGGA 0.672000 8 11 0 0 1 0 0 FAM19A1 407738 broad.mit.edu 37 3 68055810 68055810 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:68055810G>A ENST00000478136.1 + 2 531 c.41G>A c.(40-42)tGg>tAg p.W14* FAM19A1_ENST00000496687.1_Nonsense_Mutation_p.W14* NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 14 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) CTGTATTTGTGGATAAGTGCT 0.522000 26 54 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57604514 57604514 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:57604514C>T ENST00000243077.3 + 83 13234 c.12768C>T c.(12766-12768)tgC>tgT p.C4256C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4256 EGF-like 18. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGCCCACGTGCCGGTGCCCCA 0.662000 26 62 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43923842 43923842 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:43923842C>T ENST00000329196.5 + 1 1587 c.1570C>T c.(1570-1572)Ctc>Ttc p.L524F MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 524 integral to membrane aspartic-type endopeptidase activity AGAGCTCAGCCTCTTCTGGAC 0.632000 39 35 0 0 1 0 0 EIF4B 1975 broad.mit.edu 37 12 53427596 53427596 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:53427596C>T ENST00000262056.9 + 9 1312 c.986C>T c.(985-987)cCc>cTc p.P329L RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.P329L|EIF4B_ENST00000416762.3_Missense_Mutation_p.P290L NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 329 Arg-rich. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 TTAGGTCCCCCCCAAAGACCC 0.428000 13 15 0 0 1 0 0 PYROXD2 84795 broad.mit.edu 37 10 100148193 100148193 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:100148193G>A ENST00000370575.4 - 13 1413 c.1365C>T c.(1363-1365)tcC>tcT p.S455S PYROXD2_ENST00000483923.1_Intron NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 455 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GAGTGAAGAGGGAGACTACAT 0.612000 7 10 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113846 117113846 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:117113846C>T ENST00000310357.3 - 6 2261 c.2240G>A c.(2239-2241)gGa>gAa p.G747E GPRC6A_ENST00000530250.1_Missense_Mutation_p.G572E|GPRC6A_ENST00000368549.3_Missense_Mutation_p.G676E NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 747 response to amino acid stimulus G-protein coupled receptor activity p.G747E(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AAGTATGGATCCCTCCTCACA 0.453000 6 13 0 0 1 0 0 PSAT1 29968 broad.mit.edu 37 9 80943070 80943070 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:80943070C>T ENST00000376588.3 + 8 1041 c.973C>T c.(973-975)Ctt>Ttt p.L325F PSAT1_ENST00000347159.2_Intron NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 325 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) TGATAAAGCTCTTGAACTCAA 0.383000 22 4 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55128558 55128558 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:55128558G>A ENST00000370862.3 + 4 1036 c.700G>A c.(700-702)Gca>Aca p.A234T NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 234 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GACATACATGGCACCACTGTG 0.388000 11 10 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117826292 117826292 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:117826292G>A ENST00000350763.4 - 12 3954 c.3543C>T c.(3541-3543)ctC>ctT p.L1181L TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Silent_p.L1181L|TNC_ENST00000423613.2_Silent_p.L1181L|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1181 Fibronectin type-III 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AGTTGAGTTTGAGGGCATCCC 0.532000 108 9 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169962 57169962 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:57169962G>A ENST00000371244.4 + 7 1173 c.1107G>A c.(1105-1107)agG>agA p.R369R NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 369 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ATCCAGAAAGGATGCCACCTC 0.478000 19 26 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548646 20548646 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:20548646C>T ENST00000329697.6 - 14 1836 c.1668G>A c.(1666-1668)ggG>ggA p.G556G ACSM2B_ENST00000565232.1_Silent_p.G556G|ACSM2B_ENST00000565322.1_Silent_p.G477G|ACSM2B_ENST00000567001.1_Silent_p.G556G NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 556 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GTTGAATTTTCCCTGTGACAG 0.473000 59 11 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39851789 39851789 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:39851789C>T ENST00000538976.1 + 15 2079 c.1897C>T c.(1897-1899)Cgg>Tgg p.R633W RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.R633W|DAAM2_ENST00000274867.4_Missense_Mutation_p.R633W|RP11-61I13.3_ENST00000607215.1_RNA NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 633 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) GCAGGTATTTCGGATCCTGGA 0.493000 8 8 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229250 39229250 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:39229250G>A ENST00000340369.3 - 2 1915 c.1687C>T c.(1687-1689)Cac>Tac p.H563Y XIRP1_ENST00000396251.1_Missense_Mutation_p.H563Y|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 563 Interaction with CTNNB1 (By similarity). actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCCCGTTGGTGGATCATCTCC 0.622000 19 24 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50212557 50212557 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:50212557C>T ENST00000284509.6 - 18 1950 c.1809G>A c.(1807-1809)ctG>ctA p.L603L ATP8B4_ENST00000559829.1_Silent_p.L603L NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 603 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACTTGTCATCCAGGTCTCTGT 0.453000 21 5 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48753824 48753824 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:48753824C>T ENST00000285238.8 + 23 3333 c.3253C>T c.(3253-3255)Cct>Tct p.P1085S NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1085 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GGTTCTGGCCCCTGTCATCCT 0.542000 71 64 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1437379 1437379 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:1437379G>A ENST00000345913.4 + 4 440 c.349_splice c.e4+1 p.D117_splice TPO_ENST00000382269.3_Splice_Site_p.D117_splice|TPO_ENST00000382201.3_Splice_Site_p.D117_splice|TPO_ENST00000382198.1_Splice_Site_p.D117_splice|TPO_ENST00000539820.1_Splice_Site_p.D117_splice|TPO_ENST00000346956.3_Splice_Site_p.D117_splice|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Splice_Site_p.D117_splice|TPO_ENST00000349624.3_Splice_Site_p.D117_splice|TPO_ENST00000337415.3_Splice_Site_p.D117_splice NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 117 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.D117N(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCATCCAACGGGTAATGTGTG 0.498000 8 14 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961840 73961840 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:73961840G>A ENST00000373468.1 - 3 3203 c.2552C>T c.(2551-2553)tCa>tTa p.S851L KIAA2022_ENST00000055682.5_Missense_Mutation_p.S851L Q5QGS0 K2022_HUMAN KIAA2022 851 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GGGTACAAATGATTTTTCGGT 0.448000 43 4 0 0 1 0 0 KIF25 3834 broad.mit.edu 37 6 168440821 168440821 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:168440821G>A ENST00000443060.2 + 7 962 c.571G>A c.(571-573)Gtg>Atg p.V191M KIF25_ENST00000351261.3_Missense_Mutation_p.V191M|KIF25_ENST00000354419.2_Missense_Mutation_p.V191M Q9UIL4 KIF25_HUMAN kinesin family member 25 191 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCCCACCCTGGTGCACGCGGA 0.577000 12 40 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119936442 119936442 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:119936442G>A ENST00000361035.4 + 9 1357 c.1074G>A c.(1072-1074)ttG>ttA p.L358L HAO2_ENST00000325945.3_Silent_p.L345L|HAO2_ENST00000482991.1_3'UTR NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 345 fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) ATCGAAACTTGGTCCAGTTTT 0.473000 124 44 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48704093 48704093 + Missense_Mutation SNP C C A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:48704093C>A ENST00000352832.5 + 34 7106 c.6734C>A c.(6733-6735)cCa>cAa p.P2245Q CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2316Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2309Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P2293Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P2279Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P2238Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P2245Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P2189Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P2222Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2327Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P2254Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P2268Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P2272Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P2286Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2361Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P2200Q|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P2372Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P2234Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2338Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P2227Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P2282Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P2261Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P2166Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P2256Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P2301Q NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2372 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCCTCTGACCCAGCAGACCTG 0.587000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 69 4.29146e-36 4.39136e-36 1 1 0 SOX30 11063 broad.mit.edu 37 5 157053483 157053483 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:157053483G>A ENST00000265007.6 - 5 2468 c.2127C>T c.(2125-2127)aaC>aaT p.N709N SOX30_ENST00000519442.1_Silent_p.N404N|SOX30_ENST00000311371.5_3'UTR NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 709 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGGCACAGGGTTTAAGTTTT 0.458000 18 26 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242155654 242155654 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:242155654G>A ENST00000274979.8 + 19 2237 c.e19+1 ANO7_ENST00000402430.3_Splice_Site NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CTGGAAATGGGTAGGAGCCCG 0.632000 7 9 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515435 56515435 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:56515435C>T ENST00000390649.3 + 2 416 c.416C>T c.(415-417)tCg>tTg p.S139L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 139 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CGAACCCTCTCGGAGAAGGCA 0.512000 16 20 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50954001 50954001 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:50954001C>T ENST00000374103.4 - 11 1404 c.1319G>A c.(1318-1320)cGa>cAa p.R440Q OGDHL_ENST00000419399.1_Missense_Mutation_p.R383Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.R231Q NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 440 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GCGGGCCATTCGGGGGTCTGT 0.557000 18 18 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17639518 17639518 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:17639518G>A ENST00000377813.1 - 3 1938 c.1635C>T c.(1633-1635)atC>atT p.I545I RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000246043.4_Silent_p.I545I|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000455029.2_Intron Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 545 41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS]. protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 TTTTGCCCTGGATGGGAGCTC 0.512000 32 73 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141795408 141795408 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:141795408C>T ENST00000475668.2 + 64 7556 c.7502C>T c.(7501-7503)tCc>tTc p.S2501F MGAM_ENST00000549489.2_Missense_Mutation_p.S1605F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1605 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTGAATATTTCCAGAACTGTC 0.493000 57 49 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 155698 155698 + RNA SNP C C G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:155698C>G ENST00000510175.1 + 0 1133 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) AAAGTGTTTGCAAACCTGCAT 0.363000 5 11 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903583 5903583 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:5903583G>A ENST00000378961.4 + 4 997 c.793G>A c.(793-795)Gaa>Aaa p.E265K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 265 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AGAATCTGAGGAAGGTGAGGA 0.607000 4 19 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225563 21225563 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:21225563G>A ENST00000233242.1 - 29 12858 c.12731C>T c.(12730-12732)tCc>tTc p.S4244F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4244 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGGAAATAGGAAAACAGTAT 0.378000 24 39 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164700823 164700823 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:164700823G>A ENST00000264382.3 - 46 5276 c.5214C>T c.(5212-5214)gaC>gaT p.D1738D NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1738 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATAAATATAGGTCTCTTTCAT 0.318000 HNSCC(35;0.089) 15 12 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38357838 38357838 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:38357838C>T ENST00000273173.4 + 9 1647 c.1556C>T c.(1555-1557)tCt>tTt p.S519F SLC22A14_ENST00000448498.1_Missense_Mutation_p.S519F NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 519 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GGGCTGGTGTCTCTGGCCTCG 0.617000 18 15 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9011756 9011756 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:9011756C>T ENST00000319474.2 + 3 558 c.534C>T c.(532-534)ttC>ttT p.F178F CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377442.2_Intron P23280 CAH6_HUMAN carbonic anhydrase VI 0 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GTACCTTCTTCCTTTAGGGCT 0.552000 9 19 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50532304 50532304 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:50532304C>T ENST00000374144.3 + 3 2002 c.1714C>T c.(1714-1716)Ccc>Tcc p.P572S C10orf71_ENST00000323868.4_Missense_Mutation_p.P572S Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 572 endometrium(1) 1 ACACATCAATCCCCAGAAGGA 0.542000 12 22 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9318684 9318684 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:9318684C>T ENST00000378501.2 + 3 210 c.195C>T c.(193-195)atC>atT p.I65I PLCB4_ENST00000334005.3_Silent_p.I65I|PLCB4_ENST00000378493.1_Silent_p.I65I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.I65I|PLCB4_ENST00000414679.2_Silent_p.I65I|PLCB4_ENST00000278655.4_Silent_p.I65I NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 65 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GCTCCCTCATCAACAGTATTC 0.423000 14 27 0 0 1 0 0 NACAP1 83955 broad.mit.edu 37 8 102381320 102381320 + RNA SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:102381320A>G ENST00000419462.1 + 0 732 NR_002182.1 TTGATGAAGAACCAGTCAGTA 0.473000 27 32 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57604513 57604513 + Missense_Mutation SNP G G T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:57604513G>T ENST00000243077.3 + 83 13233 c.12767G>T c.(12766-12768)tGc>tTc p.C4256F NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4256 EGF-like 18. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ATGCCCACGTGCCGGTGCCCC 0.657000 25 64 5.71845e-15 5.79294e-15 1 1 0 CYP4X1 260293 broad.mit.edu 37 1 47505164 47505164 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:47505164G>A ENST00000371901.3 + 8 1283 c.1033G>A c.(1033-1035)Gag>Aag p.E345K CYP4X1_ENST00000538609.1_Missense_Mutation_p.E344K|CYP4X1_ENST00000466294.1_3'UTR NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 345 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 ATGCCGGGAGGAGGTCAGGGG 0.507000 18 18 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279878 152279878 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:152279878G>A ENST00000368799.1 - 3 7519 c.7484C>T c.(7483-7485)aCc>aTc p.T2495I FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2495 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGGATGTGGTGTGGCTGTG 0.547000 Ichthyosis 125 353 0 0 1 0 0 HLA-DQA1 3117 broad.mit.edu 37 6 32609331 32609331 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:32609331C>T ENST00000343139.5 + 2 429 c.327C>T c.(325-327)acC>acT p.T109T HLA-DQA1_ENST00000395363.1_Silent_p.T109T|HLA-DQA1_ENST00000374949.2_Silent_p.T109T NM_002122.3 NP_002113.2 P01909 DQA1_HUMAN major histocompatibility complex, class II, DQ alpha 1 108 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 CCGCTGCTACCAATGGTATGC 0.453000 28 1 0 0 1 0 0 ZNF22 7570 broad.mit.edu 37 10 45499062 45499062 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:45499062C>T ENST00000298299.3 + 2 839 c.246C>T c.(244-246)tcC>tcT p.S82S CEP164P1_ENST00000456938.2_RNA NM_006963.4 NP_008894.2 P17026 ZNF22_HUMAN zinc finger protein 22 82 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2) 8 Prostate(175;0.0352)|all_neural(218;0.202) GAAAGAAATCCCATAAATGTG 0.398000 10 15 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9967548 9967548 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:9967548G>A ENST00000264833.4 - 5 807 c.622C>T c.(622-624)Cgg>Tgg p.R208W OLFM2_ENST00000590841.1_Missense_Mutation_p.R130W NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 208 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 CCCATGGCCCGAACGGTGATG 0.652000 4 9 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103121867 103121867 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:103121867C>T ENST00000295269.4 + 4 1592 c.1135C>T c.(1135-1137)Cac>Tac p.H379Y NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 379 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GGGCAAGAATCACGAGTGGAA 0.537000 17 23 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34008362 34008362 + Missense_Mutation SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:34008362A>G ENST00000373381.4 - 58 9411 c.9235T>C c.(9235-9237)Tcg>Ccg p.S3079P NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3053 Sushi 24. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCATTGACCGAGCAGTGACGG 0.592000 12 14 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74308114 74308114 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:74308114C>T ENST00000395792.2 + 5 684 c.584C>T c.(583-585)gCt>gTt p.A195V AFP_ENST00000226359.2_Missense_Mutation_p.A195V NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 195 Albumin 1. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGCTGCAAAGCTGAAAATGCA 0.373000 Alpha-Fetoprotein, Hereditary Persistence of 12 30 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170735 58170735 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:58170735C>T ENST00000309403.2 - 1 147 c.148G>A c.(148-150)Gat>Aat p.D50N NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGACAGGAATCCCAGAATATC 0.423000 47 4 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73493206 73493206 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:73493206C>T ENST00000314256.7 + 26 3728 c.3334C>T c.(3334-3336)Ctg>Ttg p.L1112L KIAA0195_ENST00000375248.5_Silent_p.L1122L|KIAA0195_ENST00000579208.1_Silent_p.L763L NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 1112 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTTTCTTGCCTGGTCCAGCT 0.562000 16 33 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47732018 47732018 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:47732018C>T ENST00000525123.1 - 4 428 c.143G>A c.(142-144)cGg>cAg p.R48Q AGBL2_ENST00000357610.3_Missense_Mutation_p.R48Q|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.R48Q|AGBL2_ENST00000298861.4_Missense_Mutation_p.R48Q NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 48 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 GTTATTCTTCCGAACATGCTG 0.428000 51 4 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53073958 53073958 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:53073958C>T ENST00000276480.7 - 14 2254 c.1571G>A c.(1570-1572)cGa>cAa p.R524Q NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 524 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R524Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGGTGTTTTTCGTCCTTGCAC 0.438000 30 40 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457336 107457336 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:107457336G>A ENST00000318763.5 + 1 677 c.634G>A c.(634-636)Gaa>Aaa p.E212K NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TATTACCTGTGAAATTTTGGC 0.383000 66 7 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101381439 101381439 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:101381439G>A ENST00000392979.3 + 7 981 c.620G>A c.(619-621)aGg>aAg p.R207K ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R242K|ANO4_ENST00000538618.1_3'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 242 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGCCAGCAAAGGATCCATCAG 0.527000 HNSCC(74;0.22) OREG0022059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 56 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229794915 229794915 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:229794915C>T ENST00000258243.2 + 10 4582 c.4446C>T c.(4444-4446)atC>atT p.I1482I NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1482 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 ACCTCTGCATCGAGCCTGACG 0.507000 120 82 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52709727 52709727 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:52709727C>T ENST00000293670.3 - 7 1274 c.1212G>A c.(1210-1212)ctG>ctA p.L404L AC121757.1_ENST00000594763.1_Intron NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 404 Coil 2.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TCTCGATATCCAGGCCTAGCT 0.622000 26 52 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328613 152328613 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:152328613G>A ENST00000388718.5 - 3 1721 c.1649C>T c.(1648-1650)tCa>tTa p.S550L FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 550 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGATTGACTTGAGCCAGAACC 0.488000 100 235 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104025427 104025427 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:104025427C>T ENST00000388887.2 + 6 743 c.539C>T c.(538-540)aCc>aTc p.T180I NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 180 EGF-like 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GGCGATGGAACCTGTGAGTGC 0.488000 36 43 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228562329 228562329 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:228562329C>T ENST00000570156.2 + 108 25484 c.25410C>T c.(25408-25410)gcC>gcT p.A8470A OBSCN_ENST00000366707.4_Silent_p.A5147A|OBSCN_ENST00000422127.1_Silent_p.A7513A NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7513 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCATCTCTGCCACCCTCAAGA 0.617000 68 34 0 0 1 0 0 VRK3 51231 broad.mit.edu 37 19 50482441 50482441 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:50482441G>A ENST00000599538.1 - 14 1999 c.1335C>T c.(1333-1335)ccC>ccT p.P445P VRK3_ENST00000443401.2_Silent_p.P214P|VRK3_ENST00000594948.1_Silent_p.P445P|VRK3_ENST00000601341.1_Silent_p.P395P|VRK3_ENST00000377011.2_Silent_p.P395P|VRK3_ENST00000316763.3_Silent_p.P445P Q8IV63 VRK3_HUMAN vaccinia related kinase 3 445 Protein kinase. nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) GCATGGCGTAGGGCGGCTTCT 0.577000 16 17 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872587 213872587 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:213872587G>A ENST00000457361.1 - 8 1246 c.1078C>T c.(1078-1080)Cat>Tat p.H360Y IKZF2_ENST00000342002.2_Missense_Mutation_p.H366Y|IKZF2_ENST00000421754.2_Missense_Mutation_p.H286Y|IKZF2_ENST00000374327.4_Missense_Mutation_p.H215Y|IKZF2_ENST00000434687.1_Missense_Mutation_p.H360Y|IKZF2_ENST00000374319.4_Missense_Mutation_p.H334Y|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.H288Y NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CTATTTGGATGATAGACCTGA 0.498000 17 17 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116380980 116380980 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:116380980C>T ENST00000397752.3 + 5 1802 c.1602C>T c.(1600-1602)ccC>ccT p.P534P MET_ENST00000436117.2_Silent_p.P534P|MET_ENST00000318493.6_Silent_p.P534P|MET_ENST00000495962.1_3'UTR NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 534 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CTGCCCCACCCTTTGTTCAGT 0.537000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 81 98 0 0 1 0 0 ETS2 2114 broad.mit.edu 37 21 40191608 40191608 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr21:40191608C>T ENST00000360214.3 + 9 1453 c.993C>T c.(991-993)ttC>ttT p.F331F ETS2_ENST00000360938.3_Silent_p.F331F NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 331 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CCATGTCTTTCAAGGATTACA 0.537000 7 9 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63894232 63894232 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:63894232G>A ENST00000334025.2 + 5 978 c.652G>A c.(652-654)Gaa>Aaa p.E218K NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 218 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CAAACTCAGGGAAACTATGCC 0.333000 33 56 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137651 40137651 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:40137651C>T ENST00000278198.2 - 2 2155 c.192G>A c.(190-192)cgG>cgA p.R64R LRRC4C_ENST00000528697.1_Silent_p.R64R|LRRC4C_ENST00000527150.1_Silent_p.R64R|LRRC4C_ENST00000530763.1_Silent_p.R64R Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 64 LRRNT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GCAGGTTTTTCCGAACACAAA 0.532000 23 3 0 0 1 0 0 C8orf74 203076 broad.mit.edu 37 8 10555261 10555261 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:10555261G>A ENST00000304519.5 + 3 423 c.394G>A c.(394-396)Gac>Aac p.D132N RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 132 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) CCTGGGCCAGGACCAGCAGGT 0.622000 76 99 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71825180 71825180 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:71825180C>T ENST00000373545.3 - 24 3017 c.2579G>A c.(2578-2580)cGa>cAa p.R860Q PHKA1_ENST00000339490.3_Missense_Mutation_p.R919Q|PHKA1_ENST00000373539.3_Missense_Mutation_p.R919Q|PHKA1_ENST00000541944.1_Missense_Mutation_p.R860Q|PHKA1_ENST00000373542.4_Missense_Mutation_p.R919Q P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 919 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity p.R919Q(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CAGACCAATTCGAAGTCGAAA 0.403000 20 2 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179621260 179621260 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:179621260G>A ENST00000589042.1 - 46 11167 c.10943C>T c.(10942-10944)tCt>tTt p.S3648F TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.S3477F|TTN-AS1_ENST00000578746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3335 Ig-like 22. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACATTCCTTAGATAGCTCAGT 0.473000 16 17 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047521 11047521 + RNA SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr21:11047521C>T ENST00000470054.1 - 0 733 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTCATAATTCGTTGAAGACA 0.348000 22 189 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150499314 150499314 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:150499314C>T ENST00000484928.1 + 3 767 c.186C>T c.(184-186)atC>atT p.I62I TMEM176A_ENST00000461345.1_Silent_p.I3I|TMEM176A_ENST00000004103.3_Silent_p.I62I Q96HP8 T176A_HUMAN transmembrane protein 176A 62 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGATGCAGATCGTGCTGGGGA 0.562000 50 75 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65621442 65621442 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:65621442G>A ENST00000327987.4 - 14 2501 c.2250C>T c.(2248-2250)tcC>tcT p.S750S NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 750 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTGGCAGCACGGAGAGCTGGG 0.706000 5 2 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12458654 12458654 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:12458654G>A ENST00000397026.2 + 8 1587 c.e8+1 PPARG_ENST00000287820.6_Splice_Site|PPARG_ENST00000397015.2_Splice_Site|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Splice_Site|PPARG_ENST00000397012.2_Splice_Site|PPARG_ENST00000309576.6_Splice_Site|PPARG_ENST00000539812.1_Intron P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|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|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CTCAGTGGAGGTAAGATTTGT 0.398000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 4 10 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055344 72055344 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:72055344G>A ENST00000555818.1 + 2 1103 c.755G>A c.(754-756)gGc>gAc p.G252D SIPA1L1_ENST00000381232.3_Missense_Mutation_p.G252D|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.G252D NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 252 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACTGGTGGTGGCAAGGGTTCT 0.443000 25 30 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133767818 133767818 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:133767818G>A ENST00000367895.5 + 4 598 c.134G>A c.(133-135)gGt>gAt p.G45D EYA4_ENST00000430974.2_Missense_Mutation_p.G45D|EYA4_ENST00000355167.3_Missense_Mutation_p.G45D|EYA4_ENST00000531901.1_Missense_Mutation_p.G45D|EYA4_ENST00000355286.6_Missense_Mutation_p.G45D|EYA4_ENST00000431403.2_Missense_Mutation_p.G45D|EYA4_ENST00000525849.1_Missense_Mutation_p.G45D|EYA4_ENST00000452339.2_Missense_Mutation_p.G45D NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 45 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GTTGGAGGTGGTGATACTCCA 0.443000 26 18 0 0 1 0 0 OBP2B 29989 broad.mit.edu 37 9 136082624 136082624 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:136082624C>T ENST00000372034.3 - 4 418 c.377G>A c.(376-378)gGa>gAa p.G126E OBP2B_ENST00000372032.2_Silent_p.G81G|OBP2B_ENST00000461961.1_5'UTR NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 126 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) CACAAGCTTTCCCATGTGGAG 0.622000 21 4 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1540060 1540060 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:1540060C>T ENST00000263071.4 - 10 1625 c.1576G>A c.(1576-1578)Gat>Aat p.D526N SCARF1_ENST00000571272.1_Silent_p.P513P|SCARF1_ENST00000348987.3_Missense_Mutation_p.D440N NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 526 Pro/Ser-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GACTCAGGATCGGATGAGAAG 0.612000 52 57 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54040559 54040559 + Nonsense_Mutation SNP G G T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:54040559G>T ENST00000373980.4 + 13 1831 c.1414G>T c.(1414-1416)Gaa>Taa p.E472* PRKG1_ENST00000401604.2_Nonsense_Mutation_p.E457*|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Nonsense_Mutation_p.E445*|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Nonsense_Mutation_p.E175* NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 457 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) AGGTTCGTTTGAAGATTCTAC 0.333000 27 29 2.85442e-18 2.8974e-18 1 1 0 ADAMTS19 171019 broad.mit.edu 37 5 129037264 129037264 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:129037264G>A ENST00000274487.4 + 20 3265 c.3120G>A c.(3118-3120)tgG>tgA p.W1040* CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1040 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGACCGTGTGGGAGGCGGGAG 0.567000 15 27 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602911 138602911 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:138602911G>A ENST00000440172.1 - 2 1509 c.1461C>T c.(1459-1461)tcC>tcT p.S487S KIAA1549_ENST00000422774.1_Silent_p.S487S|KIAA1549_ENST00000242365.4_Silent_p.S437S NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 487 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CGATAGGTCTGGAGGGGAAAA 0.463000 O BRAF pilocytic astrocytoma 11 24 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50432674 50432674 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:50432674G>A ENST00000442544.2 + 3 1289 c.673G>A c.(673-675)Gaa>Aaa p.E225K DCC_ENST00000412726.1_Missense_Mutation_p.E73K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 225 Ig-like C2-type 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AACAGGAAATGAAGCAGAAGT 0.423000 19 29 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558190 149558190 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:149558190C>T ENST00000223210.4 + 7 2186 c.1941C>T c.(1939-1941)ttC>ttT p.F647F NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 647 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TCCGCTACTTCAAGCAGATGG 0.587000 25 15 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24181439 24181439 + Silent SNP C C T rs141430545 byFrequency TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:24181439C>T ENST00000265769.4 + 9 923 c.813C>T c.(811-813)ttC>ttT p.F271F RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Silent_p.F271F|ADAM28_ENST00000540823.1_Silent_p.F38F|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.F18F NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 271 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ATGCAAGCTTCACCTTGGAGA 0.388000 16 26 0 0 1 0 0 HP 3240 broad.mit.edu 37 16 72094462 72094462 + Silent SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:72094462T>C ENST00000355906.5 + 7 952 c.894T>C c.(892-894)taT>taC p.Y298Y HP_ENST00000562526.1_Intron|HP_ENST00000565574.1_Silent_p.Y239Y|HP_ENST00000398131.2_Silent_p.Y239Y|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Silent_p.Y239Y NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 298 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) ATCTGAAGTATGTCATGCTGC 0.493000 15 19 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155150656 155150656 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:155150656T>A ENST00000392451.2 + 6 1171 c.1088T>A c.(1087-1089)gTg>gAg p.V363E TRIM46_ENST00000368383.3_Missense_Mutation_p.V363E|TRIM46_ENST00000368385.4_Missense_Mutation_p.V363E|TRIM46_ENST00000334634.4_Missense_Mutation_p.V363E|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.V340E|TRIM46_ENST00000545012.1_Missense_Mutation_p.V237E|TRIM46_ENST00000543729.1_Missense_Mutation_p.V370E Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 363 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCAGGTCTGGTGGGCTATGCC 0.602000 3 53 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69252768 69252768 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:69252768G>A ENST00000551568.1 - 8 1084 c.1024C>T c.(1024-1026)Ccc>Tcc p.P342S CPM_ENST00000546373.1_Missense_Mutation_p.P342S|CPM_ENST00000338356.3_Missense_Mutation_p.P342S NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 342 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GTTCTATAGGGGCAGATATGT 0.333000 20 33 0 0 1 0 0 VPS37B 79720 broad.mit.edu 37 12 123351826 123351826 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:123351826G>A ENST00000267202.2 - 4 1076 c.695C>T c.(694-696)gCc>gTc p.A232V NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 232 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) GTACGGCACGGCCTGTCCCGA 0.687000 4 5 0 0 1 0 0 C17orf74 201243 broad.mit.edu 37 17 7329631 7329631 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:7329631C>T ENST00000333870.3 + 3 395 c.321C>T c.(319-321)ttC>ttT p.F107F RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 107 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) ACTCCTCTTTCTCCTGCCACC 0.617000 50 51 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97057618 97057618 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:97057618G>A ENST00000524981.3 + 6 824 c.824G>A c.(823-825)cGa>cAa p.R275Q Q6ZTY8 CL063_HUMAN 249 p.R249Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 ATAACTTGCCGAAATTTCATT 0.308000 14 20 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996085 19996085 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr18:19996085G>A ENST00000391403.2 - 1 1793 c.1690C>T c.(1690-1692)Ctg>Ttg p.L564L NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 564 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGAGGTGCCAGGGGCCCAGCG 0.507000 19 22 0 0 1 0 0 TRAV8-4 28682 broad.mit.edu 37 14 22362782 22362782 + RNA SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:22362782C>T ENST00000390438.2 + 0 170 TGATTTTTACCCTGGGTTAGT 0.483000 OREG0022572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 23 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84517962 84517962 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:84517962G>A ENST00000331369.5 + 0 156 TCCAGTCAAGGAAACTTTGAG 0.577000 11 12 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69028022 69028022 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:69028022G>A ENST00000288368.4 + 26 3458 c.3181G>A c.(3181-3183)Gaa>Aaa p.E1061K NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1061 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TCCTAAATTAGAACGTAAGAC 0.338000 16 16 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231379810 231379810 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:231379810G>A ENST00000264052.5 + 25 2450 c.2094_splice c.e25-1 p.E699_splice SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 699 E -> G (in dbSNP:rs34700604). DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AACTTGTCAGGAGGAGCATAA 0.388000 17 28 0 0 1 0 0 TNFSF11 8600 broad.mit.edu 37 13 43155265 43155265 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:43155265G>A ENST00000398795.2 + 2 372 c.4G>A c.(4-6)Gat>Aat p.D2N TNFSF11_ENST00000358545.2_Missense_Mutation_p.D2N|TNFSF11_ENST00000405262.2_Missense_Mutation_p.D2N|TNFSF11_ENST00000544862.1_Missense_Mutation_p.D2N|TNFSF11_ENST00000239849.6_Missense_Mutation_p.D75N NM_003701.3 NP_003692.1 O14788 TNF11_HUMAN tumor necrosis factor (ligand) superfamily, member 11 75 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) TCCTCAGATGGATCCTAATAG 0.373000 20 31 0 0 1 0 0 SPINT1 6692 broad.mit.edu 37 15 41146265 41146265 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:41146265C>T ENST00000344051.4 + 6 1203 c.969C>T c.(967-969)tcC>tcT p.S323S SPINT1_ENST00000562057.1_Silent_p.S307S|SPINT1_ENST00000431806.1_Silent_p.S307S O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 323 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CAGGCCCCTCCATGGAAAGGC 0.602000 50 10 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56035908 56035908 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:56035908C>T ENST00000244728.5 - 4 1056 c.659G>A c.(658-660)cGa>cAa p.R220Q COL21A1_ENST00000370819.1_Missense_Mutation_p.R220Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R220Q NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 220 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CACTGGAATTCGTGTTGGACA 0.323000 22 19 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55932118 55932118 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:55932118C>T ENST00000244728.5 - 23 2499 c.2102G>A c.(2101-2103)gGa>gAa p.G701E COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G698E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G701E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G101E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 701 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACCTTGATTTCCTTTGTCCCC 0.299000 10 15 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101818677 101818677 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:101818677C>T ENST00000375001.3 + 35 3751 c.3328C>T c.(3328-3330)Ctg>Ttg p.L1110L NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1110 Nonhelical region 9 (NC9). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCCAGCTATCCTGGGAGCAGG 0.622000 39 1 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7651747 7651747 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:7651747C>T ENST00000359156.4 - 4 697 c.495G>A c.(493-495)ggG>ggA p.G165G CD163_ENST00000541972.1_Silent_p.G153G|CD163_ENST00000396620.3_Silent_p.G165G|CD163_ENST00000432237.2_Silent_p.G165G NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 165 SRCR 2. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AACACATATTCCCTCCACGCG 0.403000 61 80 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54275254 54275254 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:54275254G>A ENST00000354646.2 - 17 3965 c.3527C>T c.(3526-3528)cCt>cTt p.P1176L WNK3_ENST00000375169.3_Missense_Mutation_p.P1176L|WNK3_ENST00000375159.2_Missense_Mutation_p.P1176L NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1176 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TTGGAAATTAGGGGATTGTAC 0.443000 34 1 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79175780 79175780 + Missense_Mutation SNP A A G rs144756457 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:79175780A>G ENST00000554719.1 + 4 814 c.323A>G c.(322-324)aAt>aGt p.N108S NRXN3_ENST00000335750.5_Missense_Mutation_p.N108S|RP11-232C2.2_ENST00000555680.1_RNA NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ACAGAGCCCAATGGCCTGATC 0.512000 29 39 0 0 1 0 0 CRYGS 1427 broad.mit.edu 37 3 186257163 186257163 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:186257163G>A ENST00000392499.2 - 3 584 c.245C>T c.(244-246)tCc>tTc p.S82F CRYGS_ENST00000307944.5_Missense_Mutation_p.S82F NM_017541.2 NP_060011.1 P22914 CRBS_HUMAN crystallin, gamma S 82 Beta/gamma crystallin 'Greek key' 2. structural constituent of eye lens endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) AGCTCTGCAGGAGCTGAGGCG 0.517000 9 18 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872800 213872800 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:213872800G>A ENST00000457361.1 - 8 1033 c.865C>T c.(865-867)Ctc>Ttc p.L289F IKZF2_ENST00000342002.2_Missense_Mutation_p.L295F|IKZF2_ENST00000421754.2_Missense_Mutation_p.L215F|IKZF2_ENST00000374327.4_Missense_Mutation_p.L144F|IKZF2_ENST00000434687.1_Missense_Mutation_p.L289F|IKZF2_ENST00000374319.4_Missense_Mutation_p.L263F|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.L217F NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) AATCGCATGAGCTTTTCCCCT 0.378000 5 8 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94690554 94690554 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:94690554G>A ENST00000282020.4 + 15 2812 c.2554G>A c.(2554-2556)Gag>Aag p.E852K GRID2_ENST00000510992.1_Missense_Mutation_p.E757K NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 852 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGCCATGCTGGAGACGTGGTG 0.483000 16 26 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891980 18891980 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:18891980C>T ENST00000317658.3 + 1 936 c.778C>T c.(778-780)Ctt>Ttt p.L260F NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 260 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) ACGAAGGGATCTTCCAGTGAC 0.408000 16 25 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189899663 189899663 + Silent SNP G G A rs138837670 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:189899663G>A ENST00000374866.3 - 53 4606 c.4332C>T c.(4330-4332)atC>atT p.I1444I NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1444 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CTTGAAGAACGATATACCGGA 0.343000 18 25 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63143210 63143210 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:63143210G>A ENST00000279178.3 + 5 1173 c.924G>A c.(922-924)atG>atA p.M308I SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 308 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GGAGTGGAATGAAGAATGCCA 0.468000 36 2 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139155299 139155299 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:139155299G>A ENST00000395297.1 - 16 3764 c.3594C>T c.(3592-3594)atC>atT p.I1198I NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1198 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGTGTTGAATGATTTCATCCA 0.448000 HNSCC(54;0.14) 15 23 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223408413 223408413 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:223408413G>A ENST00000344029.6 - 6 899 c.754C>T c.(754-756)Ctt>Ttt p.L252F SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000343846.3_Intron|SUSD4_ENST00000454695.2_Intron NM_001037175.2 NP_001032252.1 Q5VX71 SUSD4_HUMAN sushi domain containing 4 0 Sushi 4. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) GGGAAATAAAGGACAGGGAAA 0.403000 13 30 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56566761 56566761 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:56566761G>A ENST00000370754.5 - 7 779 c.780C>T c.(778-780)ccC>ccT p.P260P DST_ENST00000370788.2_Silent_p.P82P|DST_ENST00000421834.2_Silent_p.P82P|DST_ENST00000361203.3_Silent_p.P82P|DST_ENST00000312431.6_Silent_p.P82P|DST_ENST00000370769.4_Silent_p.P82P Q03001 DYST_HUMAN dystonin 82 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTTTTTCTCTGGGCTAAGAAC 0.328000 7 7 0 0 1 0 0 TFPI2 7980 broad.mit.edu 37 7 93516626 93516626 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:93516626C>T ENST00000222543.5 - 4 890 c.578G>A c.(577-579)gGg>gAg p.G193E TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron NM_006528.3 NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 193 BPTI/Kunitz inhibitor 3. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) ATTGTCATTCCCTCCACAGCC 0.388000 37 57 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2676817 2676817 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:2676817C>T ENST00000399655.1 + 13 2017 c.1752C>T c.(1750-1752)ttC>ttT p.F584F CACNA1C_ENST00000399601.1_Silent_p.F584F|CACNA1C_ENST00000335762.5_Silent_p.F609F|CACNA1C_ENST00000402845.3_Silent_p.F584F|CACNA1C_ENST00000399629.1_Silent_p.F584F|CACNA1C_ENST00000399617.1_Silent_p.F584F|CACNA1C_ENST00000347598.4_Silent_p.F584F|CACNA1C_ENST00000406454.3_Silent_p.F584F|CACNA1C_ENST00000399606.1_Silent_p.F584F|CACNA1C_ENST00000399634.1_Silent_p.F584F|CACNA1C_ENST00000399637.1_Silent_p.F584F|CACNA1C_ENST00000399603.1_Silent_p.F584F|CACNA1C_ENST00000344100.3_Silent_p.F584F|CACNA1C_ENST00000399621.1_Silent_p.F584F|CACNA1C_ENST00000399644.1_Silent_p.F584F|CACNA1C_ENST00000399641.1_Silent_p.F584F|CACNA1C_ENST00000480911.1_Silent_p.F584F|CACNA1C_ENST00000399595.1_Silent_p.F584F|CACNA1C_ENST00000399597.1_Silent_p.F584F|CACNA1C_ENST00000327702.7_Silent_p.F584F|CACNA1C_ENST00000399649.1_Silent_p.F584F|CACNA1C_ENST00000399638.1_Silent_p.F584F|CACNA1C_ENST00000399591.1_Silent_p.F584F NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 584 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGGCCTACTTCGTGTCCCTCT 0.607000 6 9 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168807854 168807854 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:168807854C>T ENST00000464456.1 - 13 3944 c.2744G>A c.(2743-2745)gGa>gAa p.G915E MECOM_ENST00000472280.1_Missense_Mutation_p.G925E|MECOM_ENST00000460814.1_Missense_Mutation_p.G915E|MECOM_ENST00000468789.1_Missense_Mutation_p.G924E|MECOM_ENST00000433243.2_Missense_Mutation_p.G925E|MECOM_ENST00000264674.3_Missense_Mutation_p.G989E|MECOM_ENST00000392736.3_Missense_Mutation_p.G924E|MECOM_ENST00000494292.1_Missense_Mutation_p.G1103E NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CTCAGGGTTTCCTTCATGTAA 0.423000 24 53 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304276 10304276 + Splice_Site SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:10304276C>T ENST00000403437.2 - 26 3349 c.3254_splice c.e26-1 p.K1085_splice CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1085 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CAAATTCTTTCCTTTAGACAG 0.333000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 8 23 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407305 105407305 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:105407305G>A ENST00000333244.5 - 7 14602 c.14483C>T c.(14482-14484)tCc>tTc p.S4828F AHNAK2_ENST00000557457.1_5'UTR NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4828 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) CAGGTCAGTGGAGCACTCTGT 0.527000 5 10 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151400735 151400735 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:151400735G>A ENST00000271715.2 - 6 1037 c.723C>T c.(721-723)gtC>gtT p.V241V POGZ_ENST00000531094.1_Silent_p.V188V|POGZ_ENST00000491586.1_Silent_p.V188V|POGZ_ENST00000368863.2_Silent_p.V146V|POGZ_ENST00000409503.1_Silent_p.V241V|POGZ_ENST00000361398.3_Silent_p.V188V|POGZ_ENST00000392723.1_Silent_p.V188V|POGZ_ENST00000540984.1_Intron NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 241 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGGACTGTGGGACGGTGCTTC 0.597000 41 106 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41726102 41726102 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:41726102C>T ENST00000352645.4 + 6 777 c.520C>T c.(520-522)Ccc>Tcc p.P174S ZC3H7B_ENST00000351589.4_Missense_Mutation_p.P174S NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 174 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GTATAAGAGGCCCCAGGTAGG 0.642000 18 18 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39374087 39374087 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:39374087C>T ENST00000326306.4 + 2 403 c.265C>T c.(265-267)Ccc>Tcc p.P89S CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 89 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) CTTCTCCTTCCCCTTTCAGAC 0.488000 59 74 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57955267 57955267 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:57955267C>T ENST00000334181.4 + 3 1001 c.751C>T c.(751-753)Cct>Tct p.P251S AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TGGAGAAAGGCCTTATGAGGG 0.403000 18 29 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26747141 26747141 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:26747141C>T ENST00000529632.2 + 12 2727 c.2531C>T c.(2530-2532)tCt>tTt p.S844F SEZ6L_ENST00000343706.4_Missense_Mutation_p.S844F|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S617F|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S844F|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S844F|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S617F|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.S41F NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 844 Sushi 4. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GAAGGGAGTTCTCTTCTGACC 0.557000 16 21 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79746865 79746865 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:79746865C>T ENST00000281127.7 + 1 1110 c.231C>T c.(229-231)tcC>tcT p.S77S NRXN3_ENST00000557594.1_Silent_p.S77S|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Silent_p.S77S NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 77 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCCCTGTTTCCCTTCGAGGAG 0.522000 38 57 0 0 1 0 0 CA2 760 broad.mit.edu 37 8 86393000 86393000 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:86393000C>T ENST00000285379.5 + 7 995 c.765C>T c.(763-765)atC>atT p.I255I NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 255 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) ACAGGCAAATCAAAGCTTCCT 0.448000 15 20 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23329076 23329076 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:23329076C>T ENST00000597761.2 + 4 1429 c.1230C>T c.(1228-1230)caC>caT p.H410H NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 GTATCTCACACCTTACTACAC 0.363000 11 10 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10408186 10408186 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:10408186C>T ENST00000226207.5 - 22 2726 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 878 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ATTTTTTCTTCCAGCTCTTTC 0.418000 27 38 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 137015310 137015310 + Silent SNP C C T rs145409110 byFrequency TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:137015310C>T ENST00000359015.4 - 7 1581 c.1221G>A c.(1219-1221)acG>acA p.T407T NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 407 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TTTCAGTGTCCGTGAAATTAG 0.358000 11 20 0 0 1 0 0 NPS 594857 broad.mit.edu 37 10 129350899 129350899 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:129350899C>T ENST00000398023.1 + 3 286 c.266C>T c.(265-267)tCa>tTa p.S89L NM_001030013.1 NP_001025184.1 P0C0P6 NPS_HUMAN neuropeptide S 89 neuropeptide signaling pathway extracellular region haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 AGAGCAAAATCATGACTAAGT 0.408000 35 43 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151772033 151772033 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:151772033T>G ENST00000255262.3 - 4 1132 c.967A>C c.(967-969)Aac>Cac p.N323H NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 323 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) ATAATGGGGTTGACAGCTGAG 0.473000 25 25 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64624793 64624793 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:64624793C>T ENST00000371079.1 + 8 1679 c.1304C>T c.(1303-1305)tCg>tTg p.S435L ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 435 transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CAGAAGTCATCGTCGGCACCA 0.453000 29 31 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13766133 13766133 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:13766133C>T ENST00000265104.4 - 59 10157 c.10053G>A c.(10051-10053)caG>caA p.Q3351Q DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3351 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTAAGGATTCCTGCCAGGAGG 0.448000 Kartagener syndrome 30 39 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11111034 11111034 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:11111034C>T ENST00000304623.8 - 14 2588 c.2399G>A c.(2398-2400)gGc>gAc p.G800D CTNND2_ENST00000458100.2_Missense_Mutation_p.G367D|CTNND2_ENST00000503622.1_Missense_Mutation_p.G463D|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G800D|CTNND2_ENST00000511377.1_Missense_Mutation_p.G709D NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 800 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 AGCATCCTTGCCATTGGCCTC 0.552000 105 152 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604852 90604852 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:90604852C>T ENST00000369352.1 + 1 665 c.665C>T c.(664-666)tCc>tTc p.S222F NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 222 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GCAGCCATTTCCTTGTTACTC 0.413000 26 45 0 0 1 0 0 MALSU1 115416 broad.mit.edu 37 7 23340497 23340497 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:23340497C>T ENST00000466681.1 + 2 449 c.296C>T c.(295-297)tCa>tTa p.S99L MALSU1_ENST00000479974.1_3'UTR NM_138446.1 NP_612455.1 Q96EH3 CG030_HUMAN mitochondrial assembly of ribosomal large subunit 1 99 mitochondrion ATGATGGTTTCACTTCTGAGG 0.408000 86 102 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729556 196729556 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:196729556C>T ENST00000312428.6 - 41 6923 c.6823G>A c.(6823-6825)Gat>Aat p.D2275N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2275 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.D2275N(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTCTTGGGATCATGGAAATCA 0.373000 41 46 0 0 1 0 0 FAM217A 222826 broad.mit.edu 37 6 4069004 4069004 + Missense_Mutation SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:4069004T>C ENST00000274673.3 - 7 1856 c.1453A>G c.(1453-1455)Att>Gtt p.I485V FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 485 AGCTTCTGAATAGAGAATGGT 0.368000 25 25 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86468737 86468737 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:86468737C>T ENST00000361669.2 + 4 3006 c.1907C>T c.(1906-1908)cCa>cTa p.P636L GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.P508L|GRM3_ENST00000546348.1_Missense_Mutation_p.P228L|GRM3_ENST00000394720.2_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 636 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ATTGCCAAGCCATCACCAGTC 0.522000 77 106 0 0 1 0 0 ACP6 51205 broad.mit.edu 37 1 147120147 147120147 + Silent SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:147120147A>G ENST00000369238.5 - 9 1491 c.1044T>C c.(1042-1044)ttT>ttC p.F348F ACP6_ENST00000460583.1_5'UTR NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 348 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) ATTTGTGGTCAAAAATCCCCA 0.488000 20 45 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209799137 209799137 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:209799137G>A ENST00000391911.1 - 13 2221 c.1832C>T c.(1831-1833)tCa>tTa p.S611L LAMB3_ENST00000356082.4_Missense_Mutation_p.S611L|LAMB3_ENST00000367030.3_Missense_Mutation_p.S611L NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 611 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCCAGGCCCTGACCACAGGCT 0.632000 26 50 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52536092 52536092 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:52536092G>A ENST00000321725.6 + 4 478 c.402G>A c.(400-402)ggG>ggA p.G134G NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 134 EGF-like 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACAGGAATGGGACCTGTGTGT 0.627000 14 23 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49420144 49420144 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:49420144C>T ENST00000374201.3 - 13 1766 c.1464G>A c.(1462-1464)gaG>gaA p.E488E FRMPD2_ENST00000305531.3_Silent_p.E463E|FRMPD2_ENST00000407470.4_Silent_p.E456E NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 488 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) ATGGCTTACTCTCCACCTGCT 0.507000 7 12 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104213 53104213 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:53104213C>T ENST00000408890.4 + 1 865 c.849C>T c.(847-849)ttC>ttT p.F283F NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 283 p.F283L(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGGTCTCCTTCGCCCTCGAGG 0.617000 44 44 0 0 1 0 0 IGHV5-51 28388 broad.mit.edu 37 14 107034835 107034835 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:107034835G>A ENST00000390626.2 - 0 303 GCCTTGGAAGGACGGGCTGTA 0.592000 42 29 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39918195 39918195 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:39918195C>T ENST00000337304.2 + 2 1526 c.644C>T c.(643-645)tCa>tTa p.S215L ATF4_ENST00000404241.2_Missense_Mutation_p.S215L|ATF4_ENST00000396680.1_Missense_Mutation_p.S215L NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 215 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) GACACCCCTTCAGATAATGAT 0.522000 15 15 0 0 1 0 0 SCFD1 23256 broad.mit.edu 37 14 31119828 31119828 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:31119828G>A ENST00000458591.2 + 9 954 c.727G>A c.(727-729)Ggt>Agt p.G243S SCFD1_ENST00000544052.2_Missense_Mutation_p.G176S|SCFD1_ENST00000396629.2_Missense_Mutation_p.G151S|SCFD1_ENST00000421551.3_Missense_Mutation_p.G184S|SCFD1_ENST00000541123.1_Missense_Mutation_p.G58S NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 243 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) TCTTTTTACAGGTGATACACT 0.289000 5 19 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101936301 101936301 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:101936301C>T ENST00000251127.6 - 10 1198 c.1117G>A c.(1117-1119)Gcc>Acc p.A373T NALCN_ENST00000376196.3_Missense_Mutation_p.A373T|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 373 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CAGGCTGGGGCGCGTCCCTGG 0.468000 11 21 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43170918 43170918 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:43170918G>A ENST00000252050.4 + 18 3909 c.3825G>A c.(3823-3825)caG>caA p.Q1275Q CUL9_ENST00000354495.3_Silent_p.Q1165Q|CUL9_ENST00000372647.2_Silent_p.Q1275Q NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1275 DOC. ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCATCATCCAGATCCGCATAA 0.582000 16 24 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150005350 150005350 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:150005350G>A ENST00000543571.1 - 4 1422 c.875C>T c.(874-876)cCa>cTa p.P292L LATS1_ENST00000253339.5_Missense_Mutation_p.P292L|LATS1_ENST00000392273.3_Missense_Mutation_p.P292L|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 292 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TGCCCCAGGTGGGACAGGAGA 0.502000 32 41 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22574412 22574412 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:22574412C>T ENST00000357774.5 - 4 1746 c.1625G>A c.(1624-1626)gGa>gAa p.G542E NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 542 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GAGTTTCTCTCCAGTATGAAT 0.348000 6 8 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113363430 113363430 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:113363430C>T ENST00000297405.5 - 40 6543 c.6299G>A c.(6298-6300)tGg>tAg p.W2100* CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W2030*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W2060*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W1996* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2100 Sushi 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGATAATTCCATCTTCTTAC 0.294000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 25 0 0 1 0 0 TSPO2 222642 broad.mit.edu 37 6 41011740 41011740 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:41011740C>T ENST00000373161.1 + 4 622 c.377C>T c.(376-378)cCc>cTc p.P126L TSPO2_ENST00000470917.1_Missense_Mutation_p.P126L|TSPO2_ENST00000373158.2_3'UTR NM_001010873.2 NP_001010873.1 Q5TGU0 TSPO2_HUMAN translocator protein 2 126 transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ATCTGGCATCCCATCAACAAA 0.617000 10 10 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 4005636 4005636 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:4005636G>A ENST00000381638.2 - 9 1771 c.1647C>T c.(1645-1647)ctC>ctT p.L549L ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 549 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GTTCAACAAGGAGGTTTTCGG 0.483000 35 38 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197128841 197128841 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:197128841G>A ENST00000367405.4 - 10 2446 c.2378C>T c.(2377-2379)tCg>tTg p.S793L ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 793 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 CTTGGCTTCCGACTGATAAAC 0.423000 39 89 0 0 1 0 0 RRM2 6241 broad.mit.edu 37 2 10263534 10263534 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:10263534C>T ENST00000360566.2 + 3 666 c.375C>T c.(373-375)ccC>ccT p.P125P RRM2_ENST00000304567.5_Silent_p.P65P NM_001165931.1 NP_001159403.1 P31350 RIR2_HUMAN ribonucleotide reductase M2 65 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) CAGCTGCCCCCGGCGTGGAGG 0.493000 19 27 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186968051 186968051 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:186968051G>A ENST00000337774.5 - 8 1467 c.1078C>T c.(1078-1080)Ccc>Tcc p.P360S MASP1_ENST00000392472.2_Missense_Mutation_p.P247S|MASP1_ENST00000296280.6_Missense_Mutation_p.P360S|MASP1_ENST00000169293.6_Missense_Mutation_p.P360S|MASP1_ENST00000392470.2_Missense_Mutation_p.P334S|MASP1_ENST00000495249.1_Intron NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 360 Sushi 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TTACAGGTGGGAATCTTGTTA 0.488000 47 50 0 0 1 0 0 KLRD1 3824 broad.mit.edu 37 12 10466052 10466052 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:10466052C>T ENST00000381908.3 + 5 622 c.362C>T c.(361-363)tCt>tTt p.S121F KLRD1_ENST00000336164.4_Missense_Mutation_p.S120F|KLRD1_ENST00000543777.1_Missense_Mutation_p.S99F|KLRD1_ENST00000381907.4_Missense_Mutation_p.S120F|KLRD1_ENST00000543420.1_Intron|KLRD1_ENST00000350274.5_Missense_Mutation_p.S89F Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, member 1 120 C-type lectin. cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 10 ATTGGACTCTCTTACAGTGAG 0.403000 27 30 0 0 1 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119799982 119799982 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:119799982T>A ENST00000355624.3 - 2 887 c.448A>T c.(448-450)Agt>Tgt p.S150C RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.S150C|RP11-354M20.3_ENST00000417968.3_RNA|RP11-354M20.3_ENST00000451610.2_RNA NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 150 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) TCAAACATACTTGCGGTCATA 0.333000 17 19 0 0 1 0 0 ERCC6L 54821 broad.mit.edu 37 X 71427378 71427378 + Silent SNP A A G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:71427378A>G ENST00000373657.1 - 3 1472 c.870T>C c.(868-870)caT>caC p.H290H PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.H413H Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 413 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) GCAGCCTAGGATGATCACACA 0.458000 21 1 0 0 1 0 0 KRT77 374454 broad.mit.edu 37 12 53096879 53096879 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:53096879C>T ENST00000341809.3 - 1 368 c.340G>A c.(340-342)Ggt>Agt p.G114S KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 114 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 AATCCAGCACCCCCAAAACCA 0.587000 15 20 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18841059 18841059 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:18841059G>A ENST00000266505.7 - 13 1818 c.1555C>T c.(1555-1557)Caa>Taa p.Q519* PLCZ1_ENST00000538330.1_Nonsense_Mutation_p.Q301*|PLCZ1_ENST00000435379.1_Nonsense_Mutation_p.Q324*|PLCZ1_ENST00000539875.1_Nonsense_Mutation_p.Q326*|PLCZ1_ENST00000541695.1_Nonsense_Mutation_p.Q382*|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000447925.2_Nonsense_Mutation_p.Q517* Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 519 C2. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TGCTTCATTTGATCATTTGGA 0.343000 17 29 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190423972 190423972 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:190423972G>A ENST00000367462.3 - 2 280 c.49C>T c.(49-51)Cta>Tta p.L17L FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 17 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CACTCCCATAGAGCCATCAGA 0.512000 7 38 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13864596 13864596 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:13864596G>A ENST00000265104.4 - 28 4610 c.4506C>T c.(4504-4506)ctC>ctT p.L1502L CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1502 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGTGCCCGGTGAGGGTGGTTA 0.458000 Kartagener syndrome 12 19 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4245657 4245657 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:4245657G>A ENST00000399609.3 - 5 519 c.507C>T c.(505-507)ttC>ttT p.F169F SRL_ENST00000537996.1_Silent_p.F127F NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 628 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GCTTCTCTAGGAAATTCTGGC 0.517000 35 49 0 0 1 0 0 GH1 2688 broad.mit.edu 37 17 61995786 61995786 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:61995786G>A ENST00000323322.5 - 2 133 c.91C>T c.(91-93)Ccc>Tcc p.P31S GH1_ENST00000351388.4_Missense_Mutation_p.P31S|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.P31S|GH1_ENST00000458650.2_Missense_Mutation_p.P31S NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 31 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 CTGGATAAGGGAATGGTTGGG 0.597000 64 86 0 0 1 0 0 MYL4 4635 broad.mit.edu 37 17 45297383 45297383 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:45297383G>A ENST00000354968.1 + 4 405 c.277G>A c.(277-279)Gag>Aag p.E93K MYL4_ENST00000572316.1_Missense_Mutation_p.E93K|MYL4_ENST00000393450.1_Missense_Mutation_p.E93K NM_001002841.1 NP_001002841.1 P12829 MYL4_HUMAN myosin, light chain 4, alkali; atrial, embryonic 93 cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1) 11 TACCAATGCCGAGGTGCTGCG 0.617000 11 19 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75279839 75279839 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:75279839C>T ENST00000524558.1 + 3 2121 c.686C>T c.(685-687)tCc>tTc p.S229F SERPINH1_ENST00000530284.1_Missense_Mutation_p.S229F|SERPINH1_ENST00000525876.1_Missense_Mutation_p.S12F|SERPINH1_ENST00000533603.1_Missense_Mutation_p.S229F|SERPINH1_ENST00000358171.3_Missense_Mutation_p.S229F P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 229 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) GTGACTCGGTCCTATACCGTG 0.557000 28 4 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22586296 22586296 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:22586296C>T ENST00000357774.5 - 2 170 c.49G>A c.(49-51)Gat>Aat p.D17N ZNF98_ENST00000601553.1_Missense_Mutation_p.D17N NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AAGGCCACATCCCTAAATGTC 0.393000 28 27 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123806238 123806238 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:123806238C>T ENST00000420886.2 - 16 2166 c.2167G>A c.(2167-2169)Ggt>Agt p.G723S SBNO1_ENST00000602750.1_Missense_Mutation_p.G722S|SBNO1_ENST00000602398.1_Missense_Mutation_p.G723S|SBNO1_ENST00000267176.4_Missense_Mutation_p.G722S NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 723 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GTAAGGCCACCTACTTTTCGT 0.428000 27 27 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38565525 38565525 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:38565525C>T ENST00000287675.5 + 6 875 c.779C>T c.(778-780)cCc>cTc p.P260L EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Missense_Mutation_p.P210L NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 260 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 GGCTTCCAGCCCCAGTTAACT 0.493000 36 43 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584643 82584643 + Nonsense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:82584643T>A ENST00000423517.2 - 5 5963 c.5626A>T c.(5626-5628)Aaa>Taa p.K1876* PCLO_ENST00000333891.8_Nonsense_Mutation_p.K1876* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1807 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTATTATTTTTTCCGGGCTT 0.383000 28 35 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976644 119976644 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:119976644C>T ENST00000313400.4 - 3 1108 c.1008G>A c.(1006-1008)gaG>gaA p.E336E ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.E336E|ASTN2_ENST00000373996.3_Silent_p.E336E O75129 ASTN2_HUMAN astrotactin 2 336 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CACCTTTCTTCTCAAAGTCCA 0.567000 102 4 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103121875 103121875 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:103121875G>A ENST00000295269.4 + 4 1600 c.1143G>A c.(1141-1143)tgG>tgA p.W381* NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 381 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ATCACGAGTGGAACTGGGCCT 0.532000 17 23 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21348482 21348482 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:21348482C>T ENST00000215739.8 + 14 1898 c.1539C>T c.(1537-1539)atC>atT p.I513I LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.I494I NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 513 BTB 1. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) ACGTGGCCATCCGGGAGGCCG 0.697000 4 10 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97167453 97167453 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:97167453C>T ENST00000389672.5 + 7 1811 c.1773C>T c.(1771-1773)gcC>gcT p.A591A EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 496 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GGTCCAAAGCCCCCAGTGTCA 0.453000 17 17 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117043960 117043960 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:117043960G>A ENST00000371876.1 - 4 2938 c.517C>T c.(517-519)Cct>Tct p.P173S KLHL13_ENST00000540167.1_Missense_Mutation_p.P208S|KLHL13_ENST00000371878.1_Missense_Mutation_p.P173S|KLHL13_ENST00000541812.1_Missense_Mutation_p.P208S|KLHL13_ENST00000371882.1_Missense_Mutation_p.P173S|KLHL13_ENST00000545703.1_Missense_Mutation_p.P182S|KLHL13_ENST00000262820.3_Missense_Mutation_p.P224S|KLHL13_ENST00000469946.1_Missense_Mutation_p.P173S|KLHL13_ENST00000539496.1_Missense_Mutation_p.P227S Q9P2N7 KLH13_HUMAN kelch-like family member 13 224 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AGCAATGCAGGAAAATTCTTC 0.438000 31 5 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1879856 1879856 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:1879856C>T ENST00000505790.1 - 5 954 c.498G>A c.(496-498)aaG>aaA p.K166K IRX4_ENST00000513692.1_Silent_p.K166K|IRX4_ENST00000231357.2_Silent_p.K166K|IRX4_ENST00000505938.1_5'UTR NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 166 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) GGTAGGGGTTCTTGCGGTGCT 0.647000 20 37 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39433696 39433696 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:39433696G>A ENST00000280481.7 + 14 7704 c.7488G>A c.(7486-7488)atG>atA p.M2496I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2496 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGGAGCTCATGAGCCCTATTG 0.488000 10 8 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34806815 34806815 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:34806815C>T ENST00000338074.2 + 18 2447 c.2286C>T c.(2284-2286)tcC>tcT p.S762S EPB41L1_ENST00000441639.1_Silent_p.S660S|EPB41L1_ENST00000373941.1_Silent_p.S761S|EPB41L1_ENST00000373950.2_Silent_p.S653S|EPB41L1_ENST00000373946.3_Silent_p.S582S|EPB41L1_ENST00000202028.5_Silent_p.S660S NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 762 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GTCTCAAGTCCGGGAAGGGGG 0.617000 11 37 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168176487 168176487 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:168176487G>A ENST00000519560.1 - 19 2546 c.2127C>T c.(2125-2127)ttC>ttT p.F709F SLIT3_ENST00000404867.3_Silent_p.F709F|SLIT3_ENST00000332966.8_Silent_p.F709F NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 709 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATCACAGGTGAAGTCCTGGA 0.547000 28 32 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139186271 139186271 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:139186271C>T ENST00000423192.1 + 11 1591 c.1430C>T c.(1429-1431)cCt>cTt p.P477L ECT2L_ENST00000541398.1_Missense_Mutation_p.P408L|ECT2L_ENST00000367682.2_Missense_Mutation_p.P477L|ECT2L_ENST00000495970.1_3'UTR Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 477 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 CAGCTGTATCCTTTCTTCAAG 0.448000 """N, Splice, Mis""" ETP ALL 22 23 0 0 1 0 0 MED18 54797 broad.mit.edu 37 1 28661339 28661339 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:28661339C>T ENST00000373842.4 + 3 694 c.485C>T c.(484-486)gCc>gTc p.A162V MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.A162V NM_001127350.1|NM_017638.2 NP_001120822.1|NP_060108.2 Q9BUE0 MED18_HUMAN mediator complex subunit 18 162 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex identical protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113) OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649) AGCACTGAGGCCTTGTCACTC 0.483000 35 23 0 0 1 0 0 FAR2P1 440905 broad.mit.edu 37 2 130785890 130785890 + RNA SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:130785890C>T ENST00000325390.3 - 0 2977 NR_026758.1 ACCTGGGTTTCCTTCCAGTGA 0.493000 9 8 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50833650 50833650 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:50833650G>A ENST00000395562.2 + 7 1107 c.638G>A c.(637-639)aGc>aAc p.S213N CHAT_ENST00000395559.2_Missense_Mutation_p.S177N|CHAT_ENST00000337653.2_Missense_Mutation_p.S295N|CHAT_ENST00000455728.2_Missense_Mutation_p.S177N|CHAT_ENST00000339797.1_Missense_Mutation_p.S177N|CHAT_ENST00000351556.3_Missense_Mutation_p.S177N NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 295 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GCTCAGAACAGCAGCATCATG 0.592000 3 3 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975021 20975021 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:20975021G>A ENST00000261383.3 - 53 10184 c.10185C>T c.(10183-10185)ttC>ttT p.F3395F DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3395 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CAGTGAGAAGGAAGTACCACA 0.527000 18 18 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33874738 33874738 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:33874738G>A ENST00000374408.3 - 4 1940 c.1844C>T c.(1843-1845)tCa>tTa p.S615L NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 615 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) AGGTCTGGCTGAGGAGTTGGT 0.622000 27 46 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89091967 89091967 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:89091967G>A ENST00000393525.3 + 0 1045 GGCATCAGAGGGAGAGCAAAA 0.328000 4 6 0 0 1 0 0 FGF20 26281 broad.mit.edu 37 8 16853181 16853181 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:16853181C>T ENST00000180166.5 - 2 521 c.373G>A c.(373-375)Gga>Aga p.G125R NM_019851.2 NP_062825.1 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 125 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 11 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TAGAGTTCTCCTTTGTCATTC 0.323000 12 10 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481597 140481597 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:140481597C>T ENST00000231130.2 + 1 1364 c.1364C>T c.(1363-1365)tCc>tTc p.S455F AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 455 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCAAATCTCCTACACCCTG 0.582000 51 77 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135583405 135583405 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:135583405G>A ENST00000513104.1 - 7 1880 c.1598C>T c.(1597-1599)cCt>cTt p.P533L TRPC7_ENST00000355180.3_Missense_Mutation_p.P472L|TRPC7_ENST00000426057.2_Missense_Mutation_p.P417L NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 533 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGGGTCTGAAGGCCACCACTT 0.498000 14 27 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113724548 113724548 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:113724548G>A ENST00000295878.3 - 10 1821 c.1675C>T c.(1675-1677)Cag>Tag p.Q559* KIAA1407_ENST00000545063.1_Nonsense_Mutation_p.Q390* NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 559 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 AGCTGTTGCTGGAAGACATGG 0.502000 34 40 0 0 1 0 0 KLHL5 51088 broad.mit.edu 37 4 39077585 39077585 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:39077585G>A ENST00000261425.3 + 3 536 c.383_splice c.e3-1 p.R128_splice KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000381930.3_Splice_Site_p.R174_splice|KLHL5_ENST00000359687.2_Splice_Site_p.R174_splice|KLHL5_ENST00000508137.2_5'UTR|KLHL5_ENST00000504108.1_Splice_Site_p.R174_splice NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 174 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 TTCTTTTCAGGACTTCCAATA 0.318000 19 28 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52561986 52561986 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:52561986C>T ENST00000261839.7 - 8 1065 c.904G>A c.(904-906)Gaa>Aaa p.E302K MYO5C_ENST00000443683.2_Missense_Mutation_p.E245K|MYO5C_ENST00000541028.1_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 302 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCTACCATTTCAGCTCGATCA 0.358000 46 6 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7731380 7731380 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:7731380C>T ENST00000507866.2 + 23 3158 c.3049C>T c.(3049-3051)Ctg>Ttg p.L1017L SORCS2_ENST00000329016.9_Silent_p.L845L NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 1017 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 TTTGGCCGATCTGTACGTGCT 0.632000 5 4 0 0 1 0 0 SMIM15 643155 broad.mit.edu 37 5 60455943 60455943 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:60455943G>A ENST00000339020.3 - 3 481 c.56C>T c.(55-57)cCc>cTc p.P19L SMIM15_ENST00000507416.1_Missense_Mutation_p.P19L NM_001048249.3 NP_001041714.1 small integral membrane protein 15 GAAGCCATAGGGGTCCTTTGC 0.502000 17 29 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38877315 38877315 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:38877315C>T ENST00000359357.3 + 63 9138 c.8884C>T c.(8884-8886)Cgt>Tgt p.R2962C DNAH8_ENST00000449981.2_Missense_Mutation_p.R3179C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R2926C dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTTCCGTGCCCGTTCTTTGAA 0.473000 7 12 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64491906 64491906 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:64491906G>A ENST00000358025.3 + 41 6249 c.6019G>A c.(6019-6021)Gaa>Aaa p.E2007K SYNE2_ENST00000554584.1_Missense_Mutation_p.E2007K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E2007K NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2007 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGGGTTTACTGAAGAAGAAGA 0.358000 18 21 0 0 1 0 0 RAB15 376267 broad.mit.edu 37 14 65417111 65417111 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:65417111T>G ENST00000533601.2 - 5 683 c.346A>C c.(346-348)Aag>Cag p.K116Q CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000436278.2_3'UTR|RAB15_ENST00000426039.3_Missense_Mutation_p.K70Q|RAB15_ENST00000267512.5_Missense_Mutation_p.R159S P59190 RAB15_HUMAN RAB15, member RAS oncogene family 116 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 8 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) ATAAGGATCTTCTGGACGCCT 0.562000 92 120 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42954791 42954791 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:42954791C>T ENST00000541208.1 + 4 619 c.250C>T c.(250-252)Ccg>Tcg p.P84S KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.P84S Q6ZS27 ZN662_HUMAN zinc finger protein 662 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) CCTGATTTGTCCGGGTAAGTG 0.423000 17 26 0 0 1 0 0 NMNAT3 349565 broad.mit.edu 37 3 139346524 139346524 + Missense_Mutation SNP A A T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:139346524A>T ENST00000413939.2 - 3 443 c.43T>A c.(43-45)Ttt>Att p.F15I NMNAT3_ENST00000339837.5_Intron|NMNAT3_ENST00000296202.7_Missense_Mutation_p.F15I|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000406164.1_5'UTR|NMNAT3_ENST00000511444.1_Intron|NMNAT3_ENST00000514703.1_Missense_Mutation_p.F15I|NMNAT3_ENST00000512391.1_Missense_Mutation_p.F15I NM_001200047.1 NP_001186976.1 Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 15 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 ATGGGGTTAAAGGAGCCACAG 0.547000 9 10 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147096103 147096103 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:147096103G>A ENST00000234739.3 + 10 4364 c.3624G>A c.(3622-3624)ggG>ggA p.G1208G NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1208 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CTGTCCTGGGGAACAGCATGC 0.587000 T """IGH@, IGL@""" B-ALL 27 47 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143018827 143018827 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:143018827G>A ENST00000343257.2 + 5 669 c.582G>A c.(580-582)atG>atA p.M194I CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 194 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TCCCCGAAATGAAGACAATAC 0.498000 54 53 0 0 1 0 0 ZNF707 286075 broad.mit.edu 37 8 144776017 144776017 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:144776017C>T ENST00000532205.1 + 8 1332 c.433C>T c.(433-435)Ccc>Tcc p.P145S ZNF707_ENST00000358656.4_Missense_Mutation_p.P145S|ZNF707_ENST00000418203.2_Missense_Mutation_p.P145S|ZNF707_ENST00000454097.1_Missense_Mutation_p.P145S|ZNF707_ENST00000532158.1_Missense_Mutation_p.P145S Q96C28 ZN707_HUMAN zinc finger protein 707 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGACGCCAAGCCCACGGCTTT 0.632000 13 18 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77254172 77254172 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:77254172C>T ENST00000341514.6 + 5 1689 c.1534C>T c.(1534-1536)Cgg>Tgg p.R512W ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.R512W NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 512 HMA 5. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity p.R512W(2) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 GAATTTAAGGCGGGAAGAAGG 0.393000 30 2 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42523486 42523486 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:42523486G>A ENST00000360608.5 - 7 1250 c.1136C>T c.(1135-1137)tCc>tTc p.S379F CYP2D6_ENST00000389970.3_Missense_Mutation_p.S379F|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.S328F|NDUFA6-AS1_ENST00000439129.1_RNA NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 379 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GATGTCACGGGATGTCATATG 0.617000 15 31 0 0 1 0 0 IL23R 149233 broad.mit.edu 37 1 67635255 67635255 + Missense_Mutation SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:67635255T>C ENST00000347310.5 + 3 472 c.301T>C c.(301-303)Tgc>Cgc p.C101R IL23R_ENST00000371002.1_Missense_Mutation_p.C101R|C1orf141_ENST00000371007.2_Intron NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 101 inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 TTCTATGTACTGCACTGCTGA 0.358000 25 39 0 0 1 0 0 OR10A3 26496 broad.mit.edu 37 11 7960919 7960919 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:7960919G>A ENST00000360759.3 - 1 222 c.149C>T c.(148-150)tCc>tTc p.S50F NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTGGTTTAAGGAGATGATGAC 0.473000 45 6 0 0 1 0 0 LIN28B 389421 broad.mit.edu 37 6 105474321 105474321 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:105474321G>A ENST00000345080.4 + 3 550 c.347G>A c.(346-348)gGg>gAg p.G116E NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 116 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) AGACCCAAAGGGAAGACACTA 0.373000 38 59 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5685010 5685010 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:5685010G>A ENST00000356134.5 - 25 2685 c.2614C>T c.(2614-2616)Cag>Tag p.Q872* ANO2_ENST00000327087.8_Nonsense_Mutation_p.Q871*|ANO2_ENST00000546188.1_Nonsense_Mutation_p.Q872* NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 876 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CTGCAGAACTGAACCTCCTGG 0.502000 13 15 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33559964 33559964 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:33559964C>T ENST00000228567.3 - 3 1133 c.837G>A c.(835-837)agG>agA p.R279R SYT10_ENST00000535526.1_Silent_p.R98R NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 279 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) ATTTCTTTTTCCTATCTGGAA 0.358000 11 5 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73759368 73759368 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr11:73759368G>A ENST00000334126.7 - 28 5603 c.5377C>T c.(5377-5379)Ccc>Tcc p.P1793S C2CD3_ENST00000313663.7_Missense_Mutation_p.P1793S Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1793 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) AAGGAAAAGGGACTGTATATT 0.418000 18 2 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113233820 113233820 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:113233820C>T ENST00000401783.2 - 16 3158 c.2822G>A c.(2821-2823)cGa>cAa p.R941Q SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R941Q|SVEP1_ENST00000374469.1_Missense_Mutation_p.R918Q NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 941 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTGAAGGAGTCGTTGCTGATT 0.378000 16 1 0 0 1 0 0 ZNF436 80818 broad.mit.edu 37 1 23688642 23688642 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:23688642G>A ENST00000314011.4 - 4 1369 c.1233C>T c.(1231-1233)acC>acT p.T411T ZNF436_ENST00000374608.3_Silent_p.T411T|ZNF436_ENST00000374609.1_Intron NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CCCCTGTGTGGGTTCTCTGAT 0.473000 17 23 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124395580 124395580 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:124395580C>T ENST00000368909.3 + 50 6341 c.6235C>T c.(6235-6237)Cga>Tga p.R2079* DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R799*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R1451*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R2069*|DMBT1_ENST00000338354.3_Nonsense_Mutation_p.R2079*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R1451*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R2069* NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2079 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCTCATTGCTCGAGTTTGTGA 0.522000 21 25 0 0 1 0 0 IGKV2-24 28923 broad.mit.edu 37 2 89475845 89475845 + RNA SNP C C T rs112678521 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:89475845C>T ENST00000484817.1 - 0 356 AGTAATAAACCCCGACATCCT 0.512000 39 65 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750787 140750787 + Nonsense_Mutation SNP G G T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:140750787G>T ENST00000576222.1 + 1 957 c.826G>T c.(826-828)Gaa>Taa p.E276* PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCAATGCCGAAATCATCTA 0.473000 37 49 1.26612e-14 1.28133e-14 1 1 0 KRBA1 84626 broad.mit.edu 37 7 149430368 149430368 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:149430368C>T ENST00000255992.10 + 18 2721 c.2322C>T c.(2320-2322)ccC>ccT p.P774P KRBA1_ENST00000485033.2_Silent_p.P714P|KRBA1_ENST00000319551.8_Silent_p.P714P|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 775 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGGAGCTGCCCCCTCCGGAAG 0.677000 86 85 0 0 1 0 0 GREM2 64388 broad.mit.edu 37 1 240656684 240656684 + Missense_Mutation SNP G G A rs17854405 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:240656684G>A ENST00000318160.4 - 2 358 c.92C>T c.(91-93)cCc>cTc p.P31L NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 31 P -> H (in Ref. 3; AAH46632). BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) GTAAGGCGAGGGGATGGCGCC 0.637000 10 31 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137776624 137776624 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:137776624C>T ENST00000242375.3 + 3 414 c.372C>T c.(370-372)gcC>gcT p.A124A AKR1D1_ENST00000411726.2_Silent_p.A124A|AKR1D1_ENST00000432161.1_Silent_p.A124A|AKR1D1_ENST00000468877.2_3'UTR NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 124 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TACCCATGGCCTTTAAGGTGA 0.507000 39 48 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11535956 11535956 + Missense_Mutation SNP G G A rs140374295 byFrequency TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:11535956G>A ENST00000262442.3 + 8 1639 c.1571G>A c.(1570-1572)cGa>cAa p.R524Q DNAH9_ENST00000454412.2_Missense_Mutation_p.R524Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 524 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GATCTTGACCGAAGATTGGGG 0.413000 29 22 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38955779 38955779 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:38955779C>T ENST00000306658.7 - 1 432 c.367G>A c.(367-369)Gaa>Aaa p.E123K NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 123 Linker 1.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CCGTATTTTTCATACCAACCC 0.413000 41 55 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38997496 38997496 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:38997496C>T ENST00000355481.4 + 57 8851 c.8720C>T c.(8719-8721)cCc>cTc p.P2907L RYR1_ENST00000360985.3_Missense_Mutation_p.P2907L|RYR1_ENST00000359596.3_Missense_Mutation_p.P2907L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2907 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGCTGGTCCCCTACGACACG 0.607000 12 22 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228338 140228338 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:140228338G>A ENST00000378122.3 + 1 982 c.258G>A c.(256-258)gtG>gtA p.V86V PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.V86V NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTGTTTGTGAATTCTCGGA 0.607000 68 119 0 0 1 0 0 NUTM2D 728130 broad.mit.edu 37 10 89127097 89127097 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:89127097C>T ENST00000412718.1 + 7 2188 c.1642C>T c.(1642-1644)Cct>Tct p.P548S NUT family member 2D GTAGGGAGCCCCTTCAGATGC 0.632000 9 12 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111794329 111794329 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:111794329C>T ENST00000452346.2 + 15 1948 c.1945C>T c.(1945-1947)Cat>Tat p.H649Y TMPRSS7_ENST00000419127.1_Missense_Mutation_p.H523Y Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 649 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CCACTGTTTTCATGGAAACAG 0.532000 66 66 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811149 140811149 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:140811149G>A ENST00000509479.2 - 2 2297 c.1441C>T c.(1441-1443)Ctc>Ttc p.L481F MAML3_ENST00000398940.1_Missense_Mutation_p.L20F|MAML3_ENST00000327122.5_Missense_Mutation_p.L325F NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 481 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) tgctgcATGAGTTTGGCCCTT 0.582000 6 7 0 0 1 0 0 GFRA3 2676 broad.mit.edu 37 5 137593429 137593429 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:137593429C>T ENST00000274721.3 - 4 930 c.684G>A c.(682-684)ggG>ggA p.G228G GFRA3_ENST00000378362.3_Silent_p.G197G NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 228 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding p.G228G(2) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCCGGCGCTCCCCGCAGCCCC 0.706000 33 22 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42794688 42794688 + Missense_Mutation SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:42794688T>C ENST00000572681.2 + 11 4563 c.4495T>C c.(4495-4497)Ttc>Ctc p.F1499L CIC_ENST00000575354.2_Missense_Mutation_p.F590L|CIC_ENST00000160740.3_Missense_Mutation_p.F590L Q96RK0 CIC_HUMAN capicua transcriptional repressor 590 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGCAACCCGGTTCCTCCCAAT 0.697000 """Mis, F, S""" oligodendroglioma 36 67 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113114668 113114668 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:113114668C>T ENST00000393845.2 - 15 1885 c.1819G>A c.(1819-1821)Gat>Aat p.D607N WDR52_ENST00000295868.2_Missense_Mutation_p.D607N|WDR52_ENST00000475568.1_5'UTR NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 607 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 GGCTTATAATCCCTTTCCACT 0.348000 16 33 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102043085 102043085 + Missense_Mutation SNP G G A rs147400257 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:102043085G>A ENST00000549145.1 + 14 1308 c.1208G>A c.(1207-1209)cGa>cAa p.R403Q MYBPC1_ENST00000541119.1_Missense_Mutation_p.R378Q|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R390Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R390Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R390Q|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R415Q|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R377Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R415Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R390Q|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R376Q|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R364Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R390Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R371Q|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R291Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R390Q|RP11-755O11.2_ENST00000547027.1_RNA Q00872 MYPC1_HUMAN myosin binding protein C, slow type 390 Ig-like C2-type 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TCAAGATACCGAATTAGAGTT 0.348000 17 16 0 0 1 0 0 UFC1 51506 broad.mit.edu 37 1 161127057 161127057 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:161127057T>A ENST00000368003.5 + 3 451 c.205T>A c.(205-207)Tgc>Agc p.C69S UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA NM_016406.3 NP_057490.2 Q9Y3C8 UFC1_HUMAN ubiquitin-fold modifier conjugating enzyme 1 69 protein ufmylation protein binding|UFM1 conjugating enzyme activity endometrium(1)|lung(9) 10 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GTTTGGAAAATGCTGGTATAT 0.438000 33 90 0 0 1 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:41962602G>C ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 6 29 0 0 1 0 0 CNNM3 26505 broad.mit.edu 37 2 97490892 97490892 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:97490892C>T ENST00000305510.3 + 2 1351 c.1323C>T c.(1321-1323)atC>atT p.I441I CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 441 CBS 2. ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 AGGACGTGATCGAGGAGATCA 0.602000 8 16 0 0 1 0 0 RRP7BP 91695 broad.mit.edu 37 22 42976321 42976321 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:42976321G>A ENST00000357802.2 - 0 154 CTCACATAGAGGTAGTGAGAA 0.527000 6 7 0 0 1 0 0 EMP2 2013 broad.mit.edu 37 16 10631855 10631855 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:10631855G>A ENST00000359543.3 - 4 455 c.246C>T c.(244-246)ttC>ttT p.F82F EMP2_ENST00000536829.1_Silent_p.F82F NM_001424.4 NP_001415.1 P54851 EMP2_HUMAN epithelial membrane protein 2 82 cell proliferation integral to membrane p.F82F(1) NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 GCTGGAGCACGAAGATGAAGA 0.557000 35 60 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67911537 67911537 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:67911537T>G ENST00000358933.5 + 6 1006 c.767T>G c.(766-768)gTg>gGg p.V256G EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 256 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) AGCCCAACAGTGGCCCTGCTG 0.622000 31 34 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102546733 102546733 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:102546733G>A ENST00000370296.2 + 6 1200 c.650G>A c.(649-651)gGa>gAa p.G217E PAX2_ENST00000428433.1_Missense_Mutation_p.G217E|PAX2_ENST00000361791.3_Intron|PAX2_ENST00000355243.3_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000553492.1_Intron Q02962 PAX2_HUMAN paired box 2 217 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CACATTAGAGGAGGTGGAGGT 0.522000 OREG0002760 type=REGULATORY REGION|Gene=PAX2(intragenic)|Dataset=Vista Enhancers|EvidenceSubtype=In-vivo LacZ Expression Assay 6 18 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22563132 22563132 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:22563132C>T ENST00000419308.2 - 2 932 c.730G>A c.(730-732)Gag>Aag p.E244K FOXA2_ENST00000319993.4_Missense_Mutation_p.E250K|FOXA2_ENST00000377115.4_Missense_Mutation_p.E244K NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 244 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.E244*(1) breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) CAGCCGTTCTCGAACATGTTG 0.667000 15 8 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57529305 57529305 + Missense_Mutation SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:57529305T>C ENST00000420713.1 + 4 1250 c.1138T>C c.(1138-1140)Tac>Cac p.Y380H NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 AGAGAAACCCTACACTTGTGA 0.418000 17 16 0 0 1 0 0 NSL1 25936 broad.mit.edu 37 1 212955717 212955717 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:212955717G>A ENST00000366977.3 - 4 514 c.496C>T c.(496-498)Cca>Tca p.P166S NSL1_ENST00000422588.2_Missense_Mutation_p.P166S|NSL1_ENST00000366978.1_Missense_Mutation_p.P63S|NSL1_ENST00000366975.6_Intron|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Missense_Mutation_p.P166S NM_015471.3 NP_056286.3 Q96IY1 NSL1_HUMAN NSL1, MIS12 kinetochore complex component 166 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) GACTCACCTGGATCAGGGTCA 0.343000 35 24 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104510905 104510905 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:104510905G>A ENST00000304883.2 - 5 1472 c.1332C>T c.(1330-1332)tcC>tcT p.S444S RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 444 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AGGCAGATTTGGAATTCCTGC 0.468000 46 44 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205549926 205549926 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:205549926G>A ENST00000367147.4 + 3 660 c.567G>A c.(565-567)agG>agA p.R189R MFSD4_ENST00000539267.1_Silent_p.R189R|MFSD4_ENST00000536357.1_Intron NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 189 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) ATGTCTCCAGGGTGCTGGGCC 0.617000 32 24 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78522585 78522585 + Silent SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:78522585T>C ENST00000397909.2 + 18 4553 c.4380T>C c.(4378-4380)ccT>ccC p.P1460P NAV3_ENST00000266692.7_Silent_p.P1283P|NAV3_ENST00000228327.6_Silent_p.P1460P|NAV3_ENST00000536525.2_Silent_p.P1460P Q8IVL0 NAV3_HUMAN neuron navigator 3 1460 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACCAGTCACCTCTGGTTTCCC 0.438000 HNSCC(70;0.22) 26 33 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701916 56701916 + Silent SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:56701916T>C ENST00000586855.2 - 5 1081 c.768A>G c.(766-768)gaA>gaG p.E256E ZSCAN5B_ENST00000358992.3_Silent_p.E256E A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 256 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTTTCTGGGGTTCCTTCCCCT 0.493000 32 37 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3653441 3653441 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:3653441G>A ENST00000335312.3 - 7 856 c.768C>T c.(766-768)ggC>ggT p.G256G PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000537021.1_Silent_p.G256G|PIP5K1C_ENST00000539785.1_Silent_p.G256G|PIP5K1C_ENST00000589578.1_Silent_p.G256G NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 256 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TGTAGGTGGAGCCCTTGAGGT 0.602000 26 25 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65621443 65621443 + Missense_Mutation SNP G G T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:65621443G>T ENST00000327987.4 - 14 2500 c.2249C>A c.(2248-2250)tCc>tAc p.S750Y NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 750 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGGCAGCACGGAGAGCTGGGT 0.701000 6 2 0.27861 0.27944 1 1 0 FLYWCH1 84256 broad.mit.edu 37 16 2988248 2988248 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:2988248C>T ENST00000399667.2 + 10 2351 c.1988C>T c.(1987-1989)tCc>tTc p.S663F FLYWCH1_ENST00000253928.9_Missense_Mutation_p.S614F|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.S613F|FLYWCH1_ENST00000570752.1_3'UTR Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 614 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 GTGCACGAGTCCTTCCTCTAC 0.647000 5 8 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108672495 108672495 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:108672495C>T ENST00000261047.3 - 1 247 c.115G>A c.(115-117)Gaa>Aaa p.E39K GUCA1C_ENST00000393963.3_Missense_Mutation_p.E39K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.E39K NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 39 EF-hand 1. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 GTCTTAAATTCATGTAGTGTT 0.388000 28 43 0 0 1 0 0 LILRA3 11026 broad.mit.edu 37 19 54802537 54802537 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:54802537T>G ENST00000391745.1 - 9 1271 c.955A>C c.(955-957)Aac>Cac p.N319H LILRA3_ENST00000391744.3_Missense_Mutation_p.N238H|LILRA3_ENST00000251390.3_Missense_Mutation_p.N302H leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAGGAGAGGTTGTATGCACCG 0.682000 13 61 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031559 79031559 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:79031559G>A ENST00000446378.2 + 2 7002 c.6971G>A c.(6970-6972)gGt>gAt p.G2324D NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2324 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TCACTAATCGGTGAGAAATTG 0.383000 17 21 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45864786 45864786 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:45864786G>A ENST00000391945.4 - 12 1310 c.1233C>T c.(1231-1233)gcC>gcT p.A411A ERCC2_ENST00000391940.4_Silent_p.A387A|ERCC2_ENST00000391944.3_Silent_p.A333A|ERCC2_ENST00000485403.2_Silent_p.A387A NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 411 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GCTTACCTTTGGCGTAGGTGC 0.587000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 23 25 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25478179 25478179 + Nonsense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:25478179G>A ENST00000381884.4 - 8 2895 c.2710C>T c.(2710-2712)Cag>Tag p.Q904* CENPJ_ENST00000545981.1_Nonsense_Mutation_p.Q904* NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 904 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CTCAAAACCTGGGATCGAGCA 0.373000 23 34 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71357892 71357892 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:71357892G>A ENST00000392650.3 - 39 5398 c.5398C>T c.(5398-5400)Cgc>Tgc p.R1800C SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.R1781C NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1800 Fibronectin type-III 12. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GCTCTGATGCGGAACCTGTAG 0.627000 13 12 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131486813 131486813 + Missense_Mutation SNP A A C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:131486813A>C ENST00000309926.4 + 1 171 c.89A>C c.(88-90)cAa>cCa p.Q30P NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 30 CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) TGCATGCCCCAAGCAGCCAGC 0.627000 33 51 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541014 178541014 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:178541014G>A ENST00000251582.7 - 22 3591 c.3490C>T c.(3490-3492)Ccc>Tcc p.P1164S NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1164 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ATTTTGTAGGGTTCATCTACG 0.547000 36 37 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57707352 57707352 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:57707352G>A ENST00000333493.4 + 2 339 c.178G>A c.(178-180)Gac>Aac p.D60N GPR97_ENST00000450388.3_5'UTR|GPR97_ENST00000327655.6_5'UTR NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 60 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTCGGGCAGCGACTCCTGCAA 0.567000 16 25 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30889739 30889739 + Silent SNP G G T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:30889739G>T ENST00000321897.5 + 18 2405 c.1773G>T c.(1771-1773)ctG>ctT p.L591L VARS2_ENST00000542001.1_Silent_p.L451L|VARS2_ENST00000476162.1_Intron|VARS2_ENST00000541562.1_Silent_p.L621L|VARS2_ENST00000416670.2_Silent_p.L591L Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 591 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 CTTCTGCCCTGTTCCCCTTTT 0.552000 31 46 1.42033e-22 1.44608e-22 1 1 0 CHGB 1114 broad.mit.edu 37 20 5904318 5904318 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:5904318C>T ENST00000378961.4 + 4 1732 c.1528C>T c.(1528-1530)Cac>Tac p.H510Y NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 510 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 TAGCTCCCATCACACAGCTGA 0.483000 14 41 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201434611 201434611 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:201434611C>T ENST00000357799.4 + 6 797 c.699C>T c.(697-699)ccC>ccT p.P233P SGOL2_ENST00000409203.3_Silent_p.P233P NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 233 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 ATGTACCTCCCAGAGGTGAGA 0.289000 17 18 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60373499 60373499 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:60373499C>T ENST00000371204.3 - 6 1005 c.962G>A c.(961-963)cGa>cAa p.R321Q CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 321 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) CAGAGCCCATCGCAGAGTTGT 0.507000 24 29 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5085338 5085338 + Nonsense_Mutation SNP A A T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:5085338A>T ENST00000399604.4 - 1 2354 c.2214T>A c.(2212-2214)tgT>tgA p.C738* ZNF594_ENST00000575779.1_Nonsense_Mutation_p.C738* Q96JF6 ZN594_HUMAN zinc finger protein 594 738 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 AGGTTTTCTCACATTCTTCAA 0.433000 39 108 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375783 93375783 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:93375783C>T ENST00000375765.3 - 2 715 c.327G>A c.(325-327)ggG>ggA p.G109G NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 109 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 TCTCCACGTCCCCTTTGATCT 0.592000 62 7 0 0 1 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101442873 101442873 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:101442873G>A ENST00000554693.2 + 0 548 SNORD114-19_ENST00000363072.1_RNA TACGTGTGTGGAACTCTGAGG 0.318000 30 32 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52320800 52320800 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:52320800G>A ENST00000356297.4 - 17 3484 c.3384C>T c.(3382-3384)tcC>tcT p.S1128S PXDNL_ENST00000543296.1_Silent_p.S1128S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1128 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AATAAGCCGCGGAGAAGAGCC 0.567000 37 34 0 0 1 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142143833 142143833 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:142143833G>A ENST00000390373.2 - 0 162 GGGTCTTGTCGATACCGATAC 0.493000 83 78 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48769844 48769844 + Missense_Mutation SNP G G C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:48769844G>C ENST00000314191.2 - 50 6535 c.6479C>G c.(6478-6480)gCg>gGg p.A2160G PRKDC_ENST00000338368.3_Missense_Mutation_p.A2160G|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2161 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCAGTGCTTCGCGTAAGGGCG 0.428000 Non-homologous end-joining 10 10 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11897454 11897454 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:11897454C>T ENST00000346436.6 + 20 2245 c.2193C>T c.(2191-2193)acC>acT p.T731T CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T709T|CLCN6_ENST00000376496.3_Silent_p.T731T NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 731 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) AAGACTGGACCATGGAGGAGC 0.562000 31 62 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20696612 20696612 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:20696612G>A ENST00000307493.4 - 2 373 c.306C>T c.(304-306)ttC>ttT p.F102F ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.F102F NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 102 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 AGGTCTGTGTGAAGACGTTGG 0.562000 30 30 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13911527 13911527 + Missense_Mutation SNP C C T rs141651575 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:13911527C>T ENST00000265104.4 - 12 1716 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 538 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAAAACTCTTCGTAATCTTGG 0.343000 Kartagener syndrome 25 26 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121971176 121971176 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:121971176G>A ENST00000265922.3 - 7 1427 c.966C>T c.(964-966)ttC>ttT p.F322F NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 322 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CGATGGTCAGGAAGTGGTTGC 0.512000 30 7 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41519035 41519035 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:41519035C>T ENST00000396942.1 - 42 5750 c.5667G>A c.(5665-5667)agG>agA p.R1889R RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000352337.4_Silent_p.R1842R|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000314214.8_Silent_p.R139R|RP11-930P14.1_ENST00000520418.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000522543.1_Intron|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000289734.7_Silent_p.R1864R|ANK1_ENST00000522231.1_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000457297.1_Intron P16157 ANK1_HUMAN ankyrin 1, erythrocytic 0 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCGCCCCCTTCCTGCCCTCTA 0.612000 23 36 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819675 159819675 + RNA SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:159819675G>A ENST00000497452.1 - 0 517 AACGACGTTGGGACTTCTCCA 0.488000 45 49 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15432684 15432684 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:15432684C>T ENST00000281513.5 - 41 5029 c.5004G>A c.(5002-5004)agG>agA p.R1668R NBAS_ENST00000441750.1_Silent_p.R1548R NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1668 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GGATAGTTTCCCTTTTATACT 0.448000 5 17 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20638635 20638635 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:20638635C>T ENST00000219151.4 - 11 1466 c.256G>A c.(256-258)Gac>Aac p.D86N ACSM1_ENST00000520010.1_Missense_Mutation_p.D435N|ACSM1_ENST00000307493.4_Missense_Mutation_p.D435N Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 435 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TTCTCTGGGTCACCCTGCAAA 0.483000 120 170 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39047471 39047471 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:39047471C>T ENST00000373256.4 + 11 1218 c.1175C>T c.(1174-1176)tCc>tTc p.S392F NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 392 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) TCCTTCACCTCCTTCCAGGTG 0.552000 24 9 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70990228 70990228 + Missense_Mutation SNP T T G TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr14:70990228T>G ENST00000256389.3 - 2 1641 c.1397A>C c.(1396-1398)gAa>gCa p.E466A RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 416 Disintegrin. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) CTCCCCTTCTTCAACCACTAG 0.438000 34 36 0 0 1 0 0 FAM117A 81558 broad.mit.edu 37 17 47794973 47794973 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:47794973G>A ENST00000240364.2 - 6 891 c.812C>T c.(811-813)cCt>cTt p.P271L RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 271 haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 GGACATGGAAGGAGAGCTGGC 0.632000 17 35 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137990578 137990578 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:137990578G>A ENST00000409968.1 + 9 2203 c.2025G>A c.(2023-2025)gaG>gaA p.E675E THSD7B_ENST00000413152.2_Silent_p.E644E|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.E675E thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CTTGTTCTGAGGACACATTGG 0.517000 12 30 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87969007 87969007 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:87969007C>T ENST00000369577.3 + 8 5703 c.5660C>T c.(5659-5661)tCt>tTt p.S1887F ZNF292_ENST00000339907.4_Missense_Mutation_p.S1882F NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1887 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CAGCCAGTTTCTGAAATGATA 0.378000 11 34 0 0 1 0 0 SPDYE4 388333 broad.mit.edu 37 17 8659749 8659749 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:8659749G>A ENST00000328794.6 - 3 522 c.346C>T c.(346-348)Cct>Tct p.P116S NM_001128076.1 NP_001121548.1 A6NLX3 SPDE4_HUMAN speedy/RINGO cell cycle regulator family member E4 116 p.P116T(1) breast(1)|endometrium(2)|kidney(1) 4 TGAACGACAGGATCCCCTGTG 0.537000 22 28 0 0 1 0 0 OR2V2 285659 broad.mit.edu 37 5 180582444 180582444 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:180582444C>T ENST00000328275.1 + 1 502 c.502C>T c.(502-504)Ccc>Tcc p.P168S NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P168S(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AATGAATTTCCCCTACTGTGG 0.473000 47 87 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29632694 29632694 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:29632694G>A ENST00000278882.3 + 8 889 c.509G>A c.(508-510)gGa>gAa p.G170E FRG1B_ENST00000358464.4_Missense_Mutation_p.G170E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAGAAAGATGGATTTTTGCAT 0.318000 15 485 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452019 138452019 + Silent SNP C C T rs141359488 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:138452019C>T ENST00000344876.4 - 1 1610 c.1224G>A c.(1222-1224)caG>caA p.Q408Q PCDH18_ENST00000412923.2_Silent_p.Q408Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.Q188Q NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 408 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CATATGTCTTCTGAAGTTTAA 0.378000 16 46 0 0 1 0 0 SP4 6671 broad.mit.edu 37 7 21516879 21516879 + Nonsense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:21516879C>T ENST00000222584.3 + 4 2079 c.1861C>T c.(1861-1863)Cga>Tga p.R621* NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 621 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 CAAGAGGCTTCGAAGAGTTGC 0.458000 21 19 0 0 1 0 0 ZNF684 127396 broad.mit.edu 37 1 41007379 41007379 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:41007379C>T ENST00000372699.3 + 4 486 c.235C>T c.(235-237)Cca>Tca p.P79S ZNF684_ENST00000493756.1_Intron|ZNF684_ENST00000372696.3_Missense_Mutation_p.P79S|ZNF684_ENST00000372697.3_Missense_Mutation_p.P79S NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) CGAGAGCTCTCCAGGTGAGTG 0.488000 4 9 0 0 1 0 0 TNFSF9 8744 broad.mit.edu 37 19 6535057 6535057 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:6535057C>T ENST00000245817.3 + 3 783 c.745C>T c.(745-747)Cct>Tct p.P249S NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 249 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 AGCCGGACTCCCTTCACCGAG 0.632000 7 9 0 0 1 0 0 MMP25 64386 broad.mit.edu 37 16 3100499 3100499 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:3100499G>A ENST00000336577.4 + 4 850 c.613G>A c.(613-615)Ggg>Agg p.G205R MMP25_ENST00000570755.1_3'UTR NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 205 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 CCCCATCTCCGGGGACACTCA 0.562000 18 23 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27067869 27067869 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr17:27067869C>T ENST00000268766.6 + 12 1632 c.1598C>T c.(1597-1599)tCc>tTc p.S533F AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 533 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S544Y(1) breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) GACCACCTCTCCCTGGGGGAG 0.607000 14 19 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085057 9085057 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr19:9085057G>A ENST00000397910.4 - 1 6961 c.6758C>T c.(6757-6759)tCc>tTc p.S2253F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2253 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S2253F(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGGAGGGGGAAAAGGAGAC 0.458000 9 11 0 0 1 0 0 DDX19B 11269 broad.mit.edu 37 16 70363885 70363885 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:70363885C>T ENST00000288071.6 + 9 1182 c.937C>T c.(937-939)Ctg>Ttg p.L313L DDX19B_ENST00000563206.1_Silent_p.L318L|DDX19B_ENST00000563392.1_Silent_p.L204L|DDX19B_ENST00000355992.3_Silent_p.L282L|DDX19B_ENST00000568625.1_Silent_p.L204L|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000451014.3_Silent_p.L287L|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000393657.2_Silent_p.L204L NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 313 Helicase C-terminal. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) GTACTATGTCCTGTGCAGCAG 0.522000 53 49 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106214249 106214249 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:106214249G>A ENST00000369704.3 + 18 2714 c.2580G>A c.(2578-2580)ggG>ggA p.G860G NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 860 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GTTTTACTGGGGGCGGATTTC 0.458000 35 38 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228447329 228447329 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:228447329G>A ENST00000570156.2 + 17 5063 c.4989G>A c.(4987-4989)ggG>ggA p.G1663G OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Silent_p.G135G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 648 Ig-like 17. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACAAGGACGGGAAGAAGCTGA 0.617000 41 30 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128984510 128984510 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr5:128984510G>A ENST00000274487.4 + 13 2150 c.2005G>A c.(2005-2007)Gat>Aat p.D669N CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 669 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGAAGCAAGGGATTGTAATGG 0.343000 18 22 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44531169 44531169 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:44531169G>A ENST00000542937.1 - 10 1611 c.1077C>T c.(1075-1077)ccC>ccT p.P359P PLTP_ENST00000354050.4_Silent_p.P287P|PLTP_ENST00000477313.1_Silent_p.P339P|PLTP_ENST00000372431.3_Silent_p.P339P|PLTP_ENST00000420868.2_Silent_p.P244P|PLTP_ENST00000372420.1_Silent_p.P251P P55058 PLTP_HUMAN phospholipid transfer protein 339 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) TGGTGCCAGAGGGCTTGATGG 0.637000 17 38 0 0 1 0 0 KIAA1958 158405 broad.mit.edu 37 9 115422315 115422315 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:115422315C>T ENST00000337530.6 + 4 2413 c.2117C>T c.(2116-2118)tCc>tTc p.S706F KIAA1958_ENST00000536272.1_Missense_Mutation_p.S734F NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 706 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 ACTCAGGTCTCCCGGAGGCTT 0.612000 45 2 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96447651 96447651 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:96447651G>A ENST00000285979.6 + 2 492 c.293G>A c.(292-294)gGa>gAa p.G98E CYP2C18_ENST00000339022.5_Missense_Mutation_p.G98E NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TCTGGAAGAGGAAGTTTTCCA 0.443000 39 54 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068422 103068422 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:103068422G>A ENST00000264260.2 + 12 2170 c.1581G>A c.(1579-1581)gtG>gtA p.V527V IL18RAP_ENST00000409369.1_Silent_p.V385V NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 527 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CTCATCTCGTGAAAAAAGCTC 0.438000 39 38 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62195239 62195239 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:62195239C>T ENST00000467148.1 - 8 5005 c.4936G>A c.(4936-4938)Gcg>Acg p.A1646T HELZ2_ENST00000427522.2_Missense_Mutation_p.A1077T NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CGGCCGAACGCCGAGCGCTCC 0.687000 5 9 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97822687 97822687 + Silent SNP G G T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:97822687G>T ENST00000297293.5 + 11 3203 c.2910G>T c.(2908-2910)tcG>tcT p.S970S NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 970 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCCTCTCCTCGGACTCAACCA 0.552000 80 101 2.02726e-29 2.07026e-29 1 1 0 TNFRSF11B 4982 broad.mit.edu 37 8 119945352 119945352 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:119945352C>T ENST00000297350.4 - 2 596 c.218G>A c.(217-219)aGc>aAc p.S73N NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 73 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) GGTGTGCCAGCTGTCTGTGTA 0.547000 56 49 0 0 1 0 0 NMNAT3 349565 broad.mit.edu 37 3 139346525 139346525 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:139346525G>A ENST00000413939.2 - 3 442 c.42C>T c.(40-42)tcC>tcT p.S14S NMNAT3_ENST00000339837.5_Intron|NMNAT3_ENST00000296202.7_Silent_p.S14S|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000406164.1_5'UTR|NMNAT3_ENST00000511444.1_Intron|NMNAT3_ENST00000514703.1_Silent_p.S14S|NMNAT3_ENST00000512391.1_Silent_p.S14S NM_001200047.1 NP_001186976.1 Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 14 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 TGGGGTTAAAGGAGCCACAGG 0.547000 9 10 0 0 1 0 0 OR4F6 390648 broad.mit.edu 37 15 102346756 102346756 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:102346756C>T ENST00000328882.4 + 1 855 c.834C>T c.(832-834)atC>atT p.I278I NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) ATGCAGTTATCACTCCCGTTT 0.358000 25 31 0 0 1 0 0 PDIA2 64714 broad.mit.edu 37 16 335410 335410 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:335410G>A ENST00000219406.6 + 6 912 c.894G>A c.(892-894)ggG>ggA p.G298G PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Silent_p.G295G NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 298 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CGGGCTTTGGGGAGGCAGCTC 0.672000 6 10 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107847066 107847066 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:107847066C>T ENST00000285311.3 - 2 968 c.263G>A c.(262-264)aGg>aAg p.R88K DKK2_ENST00000510463.1_Missense_Mutation_p.R42K|DKK2_ENST00000513208.1_5'UTR NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 88 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GTGGCAATACCTCCCAACTTC 0.512000 28 30 0 0 1 0 0 TPRG1 285386 broad.mit.edu 37 3 188956541 188956541 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr3:188956541G>A ENST00000345063.3 + 4 489 c.322G>A c.(322-324)Gag>Aag p.E108K TPRG1_ENST00000433971.1_Missense_Mutation_p.E108K|TPRG1-AS2_ENST00000425454.1_RNA NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 108 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CTGGAACAATGAGAAGGAGAG 0.423000 24 28 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117311113 117311113 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:117311113G>A ENST00000369478.3 + 5 872 c.764G>A c.(763-765)aGa>aAa p.R255K NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 255 blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) AGAGCCCACAGAGTAGCTACT 0.473000 6 19 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164175 139164175 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr8:139164175G>A ENST00000395297.1 - 13 2713 c.2543C>T c.(2542-2544)cCc>cTc p.P848L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 848 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTTCCCTTTGGGGATGTCTAT 0.488000 HNSCC(54;0.14) 13 15 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10025188 10025188 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr20:10025188C>T ENST00000378380.3 + 4 1022 c.693C>T c.(691-693)ttC>ttT p.F231F SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.F231F|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GAGGCTTTTTCGATGTAATAA 0.358000 52 40 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6122811 6122811 + Splice_Site SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:6122811C>T ENST00000261405.5 - 32 5710 c.5455_splice c.e32-1 p.R1819_splice NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1819 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CACTGTCACTCCTAGAGTTAG 0.507000 12 19 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111398140 111398140 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:111398140G>A ENST00000265162.5 + 1 912 c.570G>A c.(568-570)atG>atA p.M190I NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 190 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TCCTGACCATGGAGTTCGCCG 0.517000 31 40 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19440498 19440498 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:19440498G>A ENST00000375267.2 - 76 11272 c.11269C>T c.(11269-11271)Cgg>Tgg p.R3757W UBR4_ENST00000375254.3_Missense_Mutation_p.R3757W|UBR4_ENST00000375226.2_Missense_Mutation_p.R3733W|UBR4_ENST00000375217.2_Missense_Mutation_p.R3750W|UBR4_ENST00000375218.3_Missense_Mutation_p.R172W Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3757 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGCTGTGGCCGGTGTCCCATC 0.512000 OREG0013168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 37 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184629671 184629671 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:184629671C>T ENST00000334690.6 + 29 3503 c.3301C>T c.(3301-3303)Cct>Tct p.P1101S TRAPPC11_ENST00000357207.4_Intron|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.P707S NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 1101 GCTTAGATTTCCTAACTTCAC 0.393000 16 15 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158299363 158299363 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:158299363C>T ENST00000368168.3 - 4 790 c.683G>A c.(682-684)gGa>gAa p.G228E NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 228 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) TGGGTAGAATCCTGAGACATG 0.587000 42 72 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28900153 28900153 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr16:28900153G>A ENST00000395503.4 + 9 1158 c.974G>A c.(973-975)cGg>cAg p.R325Q ATP2A1_ENST00000357084.3_Missense_Mutation_p.R325Q|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R200Q NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 325 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GGTACCCGTCGGATGGCAAAG 0.602000 50 61 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6539198 6539198 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:6539198C>T ENST00000263125.5 - 6 657 c.558G>A c.(556-558)caG>caA p.Q186Q PRKCQ_ENST00000539722.1_Silent_p.Q61Q|PRKCQ_ENST00000397176.2_Silent_p.Q186Q NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 186 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 ACTGGTAGCCCTGTTTGTTCA 0.388000 44 42 0 0 1 0 0 ANKRD45 339416 broad.mit.edu 37 1 173628409 173628409 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:173628409C>T ENST00000333279.2 - 2 209 c.149G>A c.(148-150)gGt>gAt p.G50D NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 66 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 CTTCTGCAAACCCTCTACATC 0.453000 12 25 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97053779 97053779 + Splice_Site SNP T T C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:97053779T>C ENST00000326771.2 + 5 716 c.334_splice c.e5-1 p.G112_splice FHL5_ENST00000541107.1_Splice_Site_p.G112_splice NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 112 LIM zinc-binding 2. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) GGAGTACAGGTTCCCGCAAAA 0.348000 15 14 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247464422 247464422 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:247464422G>A ENST00000294753.4 - 9 1627 c.1163C>T c.(1162-1164)tCc>tTc p.S388F ZNF496_ENST00000366498.2_Missense_Mutation_p.S424F|ZNF496_ENST00000462139.1_5'UTR NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 388 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GCTCCGGTGGGAGGCGGGGAG 0.632000 19 47 0 0 1 0 0 QSOX1 5768 broad.mit.edu 37 1 180165422 180165422 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:180165422C>T ENST00000367602.3 + 12 1568 c.1494C>T c.(1492-1494)ttC>ttT p.F498F QSOX1_ENST00000367600.5_Silent_p.F498F O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 498 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 ACCCCCAGTTCCCCAAGGTGC 0.597000 74 57 0 0 1 0 0 VPREB3 29802 broad.mit.edu 37 22 24095102 24095102 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:24095102C>T ENST00000248948.3 - 2 437 c.333G>A c.(331-333)gcG>gcA p.A111A VPREB3_ENST00000398465.3_Silent_p.A95A NM_013378.2 NP_037510.1 Q9UKI3 VPRE3_HUMAN pre-B lymphocyte 3 111 Ig-like. endoplasmic reticulum large_intestine(1)|lung(1)|skin(1) 3 Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334) AGTAGTAATCCGCGTCGTCTT 0.602000 17 26 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6188925 6188925 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:6188925C>T ENST00000262450.3 - 23 3691 c.3592G>A c.(3592-3594)Gag>Aag p.E1198K CHD5_ENST00000378021.1_Missense_Mutation_p.E55K NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1198 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AAGAGTTCCTCCGTGCCGAAC 0.652000 13 18 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83400549 83400549 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chrX:83400549C>T ENST00000262752.2 - 6 445 c.438G>A c.(436-438)ggG>ggA p.G146G RPS6KA6_ENST00000543399.1_Silent_p.G146G NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 146 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 AGTACAGTTTCCCTTCAGTCT 0.289000 6 1 0 0 1 0 0 IFI16 3428 broad.mit.edu 37 1 159019358 159019358 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:159019358C>T ENST00000295809.7 + 9 1889 c.1634C>T c.(1633-1635)cCa>cTa p.P545L IFI16_ENST00000368131.4_Intron|IFI16_ENST00000368132.3_Missense_Mutation_p.P489L|IFI16_ENST00000340979.6_Intron|IFI16_ENST00000430894.2_Missense_Mutation_p.P493L|IFI16_ENST00000359709.3_Missense_Mutation_p.P489L|IFI16_ENST00000448393.2_Intron Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 545 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) CAGATGCCTCCATCAACACCA 0.488000 25 74 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70641765 70641765 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr10:70641765C>T ENST00000298596.6 + 2 445 c.362C>T c.(361-363)cCt>cTt p.P121L STOX1_ENST00000421961.2_Missense_Mutation_p.P11L|STOX1_ENST00000399162.2_Missense_Mutation_p.P121L|STOX1_ENST00000399169.4_Missense_Mutation_p.P121L|STOX1_ENST00000399165.4_Missense_Mutation_p.P121L NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 121 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 CAGTTCGTACCTTTGGGTGAA 0.378000 30 38 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130846060 130846060 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr12:130846060C>T ENST00000245255.3 + 16 2156 c.1884C>T c.(1882-1884)atC>atT p.I628I NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 628 Piwi.|RNA-binding (By similarity). gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TCGTGATGATCGTTGGCATCG 0.418000 18 38 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131844264 131844264 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:131844264G>A ENST00000359827.3 - 25 5590 c.4628C>T c.(4627-4629)tCc>tTc p.S1543F PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1543F Q9HCM2 PLXA4_HUMAN plexin A4 1543 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGGCCGGTGGGAGCAAGGCAC 0.557000 76 264 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058242 152058242 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:152058242C>T ENST00000368806.1 - 3 1980 c.1916G>A c.(1915-1917)gGg>gAg p.G639E NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 639 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GCCTTTGGTCCCTGGGCCTTG 0.547000 75 62 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1079275 1079275 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:1079275G>A ENST00000308624.5 + 2 273 c.144G>A c.(142-144)acG>acA p.T48T SNTG2_ENST00000407292.1_Silent_p.T48T NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 48 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TGAAGCTGACGAAAGAGGTGC 0.468000 29 32 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54212290 54212290 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:54212290G>A ENST00000259782.4 + 6 970 c.874G>A c.(874-876)Gct>Act p.A292T NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 292 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CATCGATAGGGCTTGGTGGTA 0.433000 11 19 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143713811 143713811 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:143713811C>T ENST00000264170.4 + 6 733 c.475C>T c.(475-477)Ctt>Ttt p.L159F KYNU_ENST00000375773.2_Missense_Mutation_p.L159F|KYNU_ENST00000409512.1_Missense_Mutation_p.L159F NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 159 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ATATAAAATTCTTCTAGAAGC 0.313000 14 18 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159554557 159554557 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr4:159554557G>A ENST00000307765.5 + 12 1151 c.899_splice c.e12-1 p.L300_splice RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000470033.1_Splice_Site_p.L267_splice|RXFP1_ENST00000448688.2_Splice_Site_p.L195_splice|RXFP1_ENST00000460056.2_Splice_Site_p.L219_splice NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 300 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) ATTTCTCCAGGGATTTAGGAA 0.338000 10 22 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17723476 17723477 + RNA INS - - CA rs67024576 by1000genomes TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:17723476_17723477insCA ENST00000434762.2 + 0 1669 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGGAATGCACCCAGGTGGCTGG 0.629 2 4 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 7 39 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 10 188 --- --- --- --- SLC35F5 80255 broad.mit.edu 37 2 114500277 114500277 + Frame_Shift_Del DEL A A - TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr2:114500277delA ENST00000245680.2 - 7 1155 c.742delT c.(742-744)gcfs p.C248fs SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.C242fs NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 248 transport integral to membrane p.C248fs*22(2)|p.?(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 ACCACAAAGCAAAAAAAAAAG 0.343 7 67 --- --- --- --- PHIP 55023 broad.mit.edu 37 6 79655836 79655836 + Frame_Shift_Del DEL A A - TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr6:79655836delA ENST00000275034.4 - 38 4679 c.4512delT c.(4510-4512)gtfs p.V1504fs PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1504 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTCTGGTTCGAACCACAGAAC 0.433 30 34 --- --- --- --- GTF2IRD1P1 729156 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 3 5 --- --- --- --- KLHL9 55958 broad.mit.edu 37 9 21333565 21333565 + Frame_Shift_Del DEL T T - TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr9:21333565delT ENST00000359039.4 - 1 1814 c.1294delA c.(1294-1296)tgfs p.M432fs KLHL9_ENST00000537938.1_Frame_Shift_Del_p.M364fs Q9P2J3 KLHL9_HUMAN kelch-like family member 9 432 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) GGTTCACTCATTTTTGCAACA 0.443 80 16 --- --- --- --- PROZ 8858 broad.mit.edu 37 13 113817346 113817346 + Frame_Shift_Del DEL C C - TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr13:113817346delC ENST00000342783.4 + 5 356 c.349delC c.(349-351)ccfs p.P117fs PROZ_ENST00000375547.2_Frame_Shift_Del_p.P95fs NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 95 EGF-like 1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) CATCTCCCAGCCCTGCCTCCA 0.682 2 4 --- --- --- --- SH2D7 646892 broad.mit.edu 37 15 78390841 78390842 + Frame_Shift_Ins INS - - C TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr15:78390841_78390842insC ENST00000328828.5 + 4 548_549 c.548_549insC c.(547-549)accfs p.T183fs SH2D7_ENST00000409568.2_Frame_Shift_Ins_p.T47fs NM_001101404.1 NP_001094874.1 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 183 endometrium(2)|kidney(2)|lung(3) 7 AAGGCCGCCAGCCCCCGCTCTT 0.614 23 21 --- --- --- --- IGLV3-12 28802 broad.mit.edu 37 22 23114749 23114749 + RNA DEL T T - rs74864698 TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543E0957-470A-4E9B-8E05-25851B3F7FB1 12AECD87-A8A3-4E2A-BF4A-D9D20E763434 g.chr22:23114749delT ENST00000390313.2 + 0 55 CATCCTCTCCTTTTTTTTTTT 0.498 3 6 --- --- --- ---